kn/publications.json

## publications.json
[{"title": "Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid", "authors": "Watson JD, Crick FH", "abstract": "", "journal": {"name": "Nature", "impact_factor": 0.0}, "refcount": "", "pubmed_id": "17804965", "published_on": "1953-04-25", "metadata": "{u'essn': u'1528-1132', u'pages': u'3-5', u'locationlabel': u'', u'pubdate': u'2007 Sep', u'medium': u'', u'pubtype': [u'Historical Article', u'Journal Article'], u'availablefromurl': u'', u'issue': u'', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'molecular structure of nucleic acids a structure for deoxyribose nucleic acid', u'lastauthor': u'Crick FH', u'title': u'Molecular structure of nucleic acids: a structure for deoxyribose nucleic acid.', u'fulljournalname': u'Clinical orthopaedics and related research', u'publisherlocation': u'', u'sortfirstauthor': u'Watson JD', u'sortpubdate': u'2007/09/01 00:00', u'uid': u'17804965', u'pmcrefcount': u'', u'pubstatus': u'4', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/09/07 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/11/02 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/09/07 09:00'}], u'issn': u'0009-921X', u'nlmuniqueid': u'0075674', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Watson JD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Crick FH', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [], u'source': u'Clin Orthop Relat Res', u'chapter': u'', u'articleids': [{u'value': u'17804965', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'10.1097/BLO.0b013e31814b9304', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'00003086-200709000-00002', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'17804965', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17804965', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'462'}", "phenotypes": [], "chrom": null, "pos": null, "personal": false}, {"title": "DNA sequencing with chain-terminating inhibitors.", "authors": "Sanger F, Nicklen S, Coulson AR", "abstract": "A new method for determining nucleotide sequences in DNA is described. It is similar to the \"plus and minus\" method [Sanger, F. & Coulson, A. R. (1975) J. Mol. Biol. 94, 441-448] but makes use of the 2',3'-dideoxy and arabinonucleoside analogues of the normal deoxynucleoside triphosphates, which act as specific chain-terminating inhibitors of DNA polymerase. The technique has been applied to the DNA of bacteriophage varphiX174 and is more rapid and more accurate than either the plus or the minus method.", "journal": {"name": "Proc Natl Acad Sci U S A", "impact_factor": 0.0}, "refcount": 17510, "pubmed_id": "271968", "published_on": "1977-12-01", "metadata": "{u'essn': u'1091-6490', u'pages': u'5463-7', u'locationlabel': u'', u'pubdate': u'1977 Dec', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'12', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'dna sequencing with chain terminating inhibitors', u'lastauthor': u'Coulson AR', u'title': u'DNA sequencing with chain-terminating inhibitors.', u'fulljournalname': u'Proceedings of the National Academy of Sciences of the United States of America', u'publisherlocation': u'', u'sortfirstauthor': u'Sanger F', u'sortpubdate': u'1977/12/01 00:00', u'uid': u'271968', u'pmcrefcount': 17510, u'pubstatus': u'4', u'history': [{u'pubstatus': u'pubmed', u'date': u'1977/12/01 00:00'}, {u'pubstatus': u'medline', u'date': u'1977/12/01 00:01'}, {u'pubstatus': u'entrez', u'date': u'1977/12/01 00:00'}], u'issn': u'0027-8424', u'nlmuniqueid': u'7505876', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Sanger F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nicklen S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Coulson AR', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Proc Natl Acad Sci U S A', u'chapter': u'', u'articleids': [{u'value': u'271968', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'PMC431765', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'271968', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'271968', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC431765;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'74'}", "phenotypes": [], "chrom": null, "pos": null, "personal": false}, {"title": "Linkage of early-onset familial breast cancer to chromosome 17q21.", "authors": "Hall JM, Lee MK, Newman B, Morrow JE, ANderson LA, Huey B, King MC", "abstract": "Human breast cancer is usually caused by genetic alterations of somatic cells of the breast, but occasionally, susceptibility to the disease is inherited. Mapping the genes responsible for inherited breast cancer may also allow the identification of early lesions that are critical for the development of breast cancer in the general population. Chromosome 17q21 appears to be the locale of a gene for inherited susceptibility to breast cancer in families with early-onset disease. Genetic analysis yields a lod score (logarithm of the likelihood ratio for linkage) of 5.98 for linkage of breast cancer susceptibility to D17S74 in early-onset families and negative lod scores in families with late-onset disease. Likelihood ratios in favor of linkage heterogeneity among families ranged between 2000:1 and greater than 10(6):1 on the basis of multipoint analysis of four loci in the region.", "journal": {"name": "Science", "impact_factor": 37.205}, "refcount": 362, "pubmed_id": "2270482", "published_on": "1990-12-01", "metadata": "{u'essn': u'1095-9203', u'pages': u'1684-9', u'locationlabel': u'', u'pubdate': u'1990 Dec 21', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'4988', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'linkage of early onset familial breast cancer to chromosome 17q21', u'lastauthor': u'King MC', u'title': u'Linkage of early-onset familial breast cancer to chromosome 17q21.', u'fulljournalname': u'Science (New York, N.Y.)', u'publisherlocation': u'', u'sortfirstauthor': u'Hall JM', u'sortpubdate': u'1990/12/21 00:00', u'uid': u'2270482', u'pmcrefcount': 362, u'pubstatus': u'4', u'history': [{u'pubstatus': u'pubmed', u'date': u'1990/12/21 00:00'}, {u'pubstatus': u'medline', u'date': u'1990/12/21 00:01'}, {u'pubstatus': u'entrez', u'date': u'1990/12/21 00:00'}], u'issn': u'0036-8075', u'nlmuniqueid': u'0404511', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Hall JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lee MK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Newman B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Morrow JE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Anderson LA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Huey B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'King MC', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Science', u'chapter': u'', u'articleids': [{u'value': u'2270482', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'2270482', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'2270482', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'250'}", "phenotypes": [], "chrom": null, "pos": null, "personal": false}, {"title": "Initial sequencing and analysis of the human genome", "authors": "International Human Genome Sequencing Consortium", "abstract": "The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome. We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence.", "journal": {"name": "Nature", "impact_factor": 0.0}, "refcount": 4861, "pubmed_id": "11237011", "published_on": "2001-02-15", "metadata": "{u'essn': u'1476-4687', u'pages': u'860-921', u'locationlabel': u'', u'pubdate': u'2001 Feb 15', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'6822', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'initial sequencing and analysis of the human genome', u'lastauthor': u'Szustakowki J', u'title': u'Initial sequencing and analysis of the human genome.', u'fulljournalname': u'Nature', u'publisherlocation': u'', u'sortfirstauthor': u'Lander ES', u'sortpubdate': u'2001/02/15 00:00', u'uid': u'11237011', u'pmcrefcount': 4861, u'pubstatus': u'4', u'history': [{u'pubstatus': u'pubmed', u'date': u'2001/03/10 10:00'}, {u'pubstatus': u'medline', u'date': u'2001/03/27 10:01'}, {u'pubstatus': u'entrez', u'date': u'2001/03/10 10:00'}], u'issn': u'0028-0836', u'nlmuniqueid': u'0410462', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 11236992, u'refsource': u'Nature. 2001 Feb 15;409(6822):814-6', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': 11236995, u'refsource': u'Nature. 2001 Feb 15;409(6822):820-1', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': 11236994, u'refsource': u'Nature. 2001 Feb 15;409(6822):818-20', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': 11236997, u'refsource': u'Nature. 2001 Feb 15;409(6822):822-3', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': 11606985, u'refsource': u'Nature. 2001 Oct 18;413(6857):660', u'reftype': u'Comment in'}, {u'note': u'Szustakowki, J [corrected to Szustakowski, J]', u'pmid': u'', u'refsource': u'Nature 2001 Jun 7;411(6838):720', u'reftype': u'Erratum in'}, {u'note': u'', u'pmid': u'', u'refsource': u'Nature 2001 Aug 2;412(6846):565', u'reftype': u'Erratum in'}], 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u'authtype': u'Author'}, {u'name': u'Huang G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gu J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hood L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rowen L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Madan A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Qin S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Davis RW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Federspiel NA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Abola AP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Proctor MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Myers RM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schmutz J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dickson M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Grimwood J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cox DR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Olson MV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kaul R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Raymond C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Shimizu N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kawasaki K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Minoshima S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Evans GA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Athanasiou M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schultz R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Roe BA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chen F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pan H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ramser J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lehrach H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Reinhardt R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McCombie WR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'de la Bastide M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dedhia N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bl\\xf6cker H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hornischer K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nordsiek G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Agarwala R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Aravind L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bailey JA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bateman A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Batzoglou S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Birney E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bork P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Brown DG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Burge CB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cerutti L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chen HC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Church D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Clamp M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Copley RR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Doerks T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Eddy SR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Eichler EE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Furey TS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Galagan J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gilbert JG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Harmon C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hayashizaki Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Haussler D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hermjakob H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hokamp K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jang W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Johnson LS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jones TA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kasif S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kaspryzk A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kennedy S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kent WJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kitts P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Koonin EV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Korf I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kulp D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lancet D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lowe TM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McLysaght A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mikkelsen T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Moran JV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mulder N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pollara VJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ponting CP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schuler G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schultz J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Slater G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Smit AF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stupka E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Szustakowki J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thierry-Mieg D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thierry-Mieg J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wagner L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wallis J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wheeler R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Williams A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wolf YI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wolfe KH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yang SP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yeh RF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Collins F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Guyer MS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Peterson J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Felsenfeld A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wetterstrand KA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Patrinos A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Morgan MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'de Jong P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Catanese JJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Osoegawa K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Shizuya H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Choi S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chen YJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Szustakowki J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'International Human Genome Sequencing Consortium.', u'clusterid': u'', u'authtype': u'CollectiveName'}], u'attributes': [u'Has Abstract'], u'source': u'Nature', u'chapter': u'', u'articleids': [{u'value': u'11237011', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'10.1038/35057062', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'11237011', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'11237011', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'409'}", "phenotypes": [], "chrom": null, "pos": null, "personal": false}, {"title": "Complement factor H polymorphism in age-related macular degeneration.", "authors": "Klein RJ", "abstract": "Age-related macular degeneration (AMD) is a major cause of\n blindness in the elderly. We report a genome-wide screen of 96 cases and 50\n controls for polymorphisms associated with AMD. Among 116,204\n single-nucleotide polymorphisms genotyped, an intronic and common variant in\n the complement factor H gene (CFH) is strongly associated with AMD (nominal P\n value <10(-7)). In individuals homozygous for the risk allele, the likelihood\n of AMD is increased by a factor of 7.4 (95% confidence interval 2.9 to 19).\n Resequencing revealed a polymorphism in linkage disequilibrium with the risk\n allele representing a tyrosine-histidine change at amino acid 402. This\n polymorphism is in a region of CFH that binds heparin and C-reactive protein.\n The CFH gene is located on chromosome 1 in a region repeatedly linked to AMD\n in family-based studies.", "journal": {"name": "Science", "impact_factor": 37.205}, "refcount": 1146, "pubmed_id": "15761122", "published_on": "2005-03-10", "metadata": "{u'essn': u'1095-9203', u'pages': u'385-9', u'locationlabel': u'', u'pubdate': u'2005 Apr 15', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5720', u'booktitle': u'', u'epubdate': u'2005 Mar 10', u'sorttitle': u'complement factor h polymorphism in age related macular degeneration', u'lastauthor': u'Hoh J', u'title': u'Complement factor H polymorphism in age-related macular degeneration.', u'fulljournalname': u'Science (New York, N.Y.)', u'publisherlocation': u'', u'sortfirstauthor': u'Klein RJ', u'sortpubdate': u'2005/04/15 00:00', u'uid': u'15761122', u'pmcrefcount': 1146, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2005/03/12 09:00'}, {u'pubstatus': u'medline', u'date': u'2005/04/29 09:00'}, {u'pubstatus': u'entrez', u'date': u'2005/03/12 09:00'}], u'issn': u'0036-8075', u'nlmuniqueid': u'0404511', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 15769856, u'refsource': u'Science. 2005 Apr 15;308(5720):362-4', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Klein RJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zeiss C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chew EY', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tsai JY', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sackler RS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Haynes C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Henning AK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'SanGiovanni JP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mane SM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mayne ST', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bracken MB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ferris FL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ott J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barnstable C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hoh J', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Science', u'chapter': u'', u'articleids': [{u'value': u'15761122', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1109557', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1126/science.1109557', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1512523', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS10068', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'15761122', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'15761122', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1512523;manuscript-id: NIHMS10068;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'308'}", "phenotypes": [{"body_part": "face", "fun": false, "description": "Age-related macular degeneration", "rsid": "380390"}], "chrom": "1", "pos": 196701051, "personal": false}, {"title": "High-resolution whole-genome association study of Parkinson disease.", "authors": "Maraganore DM", "abstract": "We performed a two-tiered, whole-genome association study of\n Parkinson disease (PD). For tier 1, we individually genotyped 198,345\n uniformly spaced and informative single-nucleotide polymorphisms (SNPs) in\n 443 sibling pairs discordant for PD. For tier 2a, we individually genotyped\n 1,793 PD-associated SNPs (P<.01 in tier 1) and 300 genomic control SNPs in\n 332 matched case-unrelated control pairs. We identified 11 SNPs that were\n associated with PD (P<.01) in both tier 1 and tier 2 samples and had the same\n direction of effect. For these SNPs, we combined data from the\n case-unaffected sibling pair (tier 1) and case-unrelated control pair (tier\n 2) samples and employed a liberalization of the sibling\n transmission/disequilibrium test to calculate odds ratios, 95% confidence\n intervals, and P values. A SNP within the semaphorin 5A gene (SEMA5A) had the\n lowest combined P value (P=7.62 x 10(-6)). The protein encoded by this gene\n plays an important role in neurogenesis and in neuronal apoptosis, which is\n consistent with existing hypotheses regarding PD pathogenesis. A second SNP\n tagged the PARK11 late-onset PD susceptibility locus (P=1.70 x 10(-5)). In\n tier 2b, we also selected for genotyping additional SNPs that were borderline\n significant (P<.05) in tier 1 but that tested a priori biological and genetic\n hypotheses regarding susceptibility to PD (n=941 SNPs). In analysis of the\n combined tier 1 and tier 2b data, the two SNPs with the lowest P values\n (P=9.07 x 10(-6); P=2.96 x 10(-5)) tagged the PARK10 late-onset PD\n susceptibility locus. Independent replication across populations will clarify\n the role of the genomic loci tagged by these SNPs in conferring PD\n susceptibility.", "journal": {"name": "Am J Hum Genet", "impact_factor": 0.0}, "refcount": 151, "pubmed_id": "16252231", "published_on": "2005-09-09", "metadata": "{u'essn': u'1537-6605', u'pages': u'685-93', u'locationlabel': u'', u'pubdate': u'2005 Nov', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5', u'booktitle': u'', u'epubdate': u'2005 Sep 9', u'sorttitle': u'high resolution whole genome association study of parkinson disease', u'lastauthor': u'Ballinger DG', u'title': u'High-resolution whole-genome association study of Parkinson disease.', u'fulljournalname': u'American journal of human genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Maraganore DM', u'sortpubdate': u'2005/11/01 00:00', u'uid': u'16252231', u'pmcrefcount': 151, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2005/06/03 00:00'}, {u'pubstatus': u'accepted', u'date': u'2005/07/28 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2005/10/28 09:00'}, {u'pubstatus': u'medline', u'date': u'2006/03/15 09:00'}, {u'pubstatus': u'entrez', u'date': u'2005/10/28 09:00'}], u'issn': u'0002-9297', u'nlmuniqueid': u'0370475', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 16685662, u'refsource': u'Am J Hum Genet. 2006 Jun;78(6):1088-90; author reply 1092-4', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': 16685660, u'refsource': u'Am J Hum Genet. 2006 Jun;78(6):1082-4; author reply 1092-4', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': 16685663, u'refsource': u'Am J Hum Genet. 2006 Jun;78(6):1090-2; author reply 1092-4', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Maraganore DM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'de Andrade M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lesnick TG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Strain KJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Farrer MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rocca WA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pant PV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Frazer KA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cox DR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ballinger DG', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Am J Hum Genet', u'chapter': u'', u'articleids': [{u'value': u'16252231', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'S0002-9297(07)63354-0', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1086/496902', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1271381', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'16252231', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'16252231', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1271381;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'77'}", "phenotypes": [{"body_part": "brain", "fun": false, "description": "Parkinson's disease", "rsid": "7702187"}], "chrom": "5", "pos": 9332281, "personal": false}, {"title": "A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization.", "authors": "Arking DE", "abstract": "Extremes of the electrocardiographic QT interval, a measure of\n cardiac repolarization, are associated with increased cardiovascular\n mortality. We identified a common genetic variant influencing this\n quantitative trait through a genome-wide association study on 200 subjects at\n the extremes of a population-based QT interval distribution of 3,966 subjects\n from the KORA cohort in Germany, with follow-up screening of selected markers\n in the remainder of the cohort. We validated statistically significant\n findings in two independent samples of 2,646 subjects from Germany and 1,805\n subjects from the US Framingham Heart Study. This genome-wide study\n identified NOS1AP (CAPON), a regulator of neuronal nitric oxide synthase, as\n a new target that modulates cardiac repolarization. Approximately 60% of\n subjects of European ancestry carry at least one minor allele of the NOS1AP\n genetic variant, which explains up to 1.5% of QT interval variation.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 191, "pubmed_id": "16648850", "published_on": "2006-04-30", "metadata": "{u'essn': u'1546-1718', u'pages': u'644-51', u'locationlabel': u'', u'pubdate': u'2006 Jun', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'6', u'booktitle': u'', u'epubdate': u'2006 Apr 30', u'sorttitle': u'common genetic variant in the nos1 regulator nos1ap modulates cardiac repolarization', u'lastauthor': u'Chakravarti A', u'title': u'A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Arking DE', u'sortpubdate': u'2006/06/01 00:00', u'uid': u'16648850', u'pmcrefcount': 191, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2006/02/27 00:00'}, {u'pubstatus': u'accepted', u'date': u'2006/03/29 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2006/05/02 09:00'}, {u'pubstatus': u'medline', u'date': u'2006/08/31 09:00'}, {u'pubstatus': u'entrez', u'date': u'2006/05/02 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Arking DE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pfeufer A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Post W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kao WH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Newton-Cheh C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ikeda M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'West K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kashuk C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Akyol M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Perz S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jalilzadeh S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Illig T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gieger C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Guo CY', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Larson MG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wichmann HE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Marb\\xe1n E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"O'Donnell CJ\", u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hirschhorn JN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'K\\xe4\\xe4b S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Spooner PM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Meitinger T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chakravarti A', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'16648850', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng1790', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng1790', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'16648850', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'16648850', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'38'}", "phenotypes": [{"body_part": "", "fun": false, "description": "QT interval", "rsid": "10494366"}], "chrom": "1", "pos": 162085685, "personal": false}, {"title": "Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.", "authors": "Fung HC", "abstract": "Several genes underlying rare monogenic forms of\n Parkinson's disease have been identified over the past decade. Despite\n evidence for a role for genetics in sporadic Parkinson's disease, few common\n genetic variants have been unequivocally linked to this disorder. We sought\n to identify any common genetic variability exerting a large effect in risk\n for Parkinson's disease in a population cohort and to produce publicly\n available genome-wide genotype data that can be openly mined by interested\n researchers and readily augmented by genotyping of additional repository\n subjects. METHODS: We did genome-wide, single-nucleotide-polymorphism (SNP)\n genotyping of publicly available samples from a cohort of Parkinson's disease\n patients (n=267) and neurologically normal controls (n=270). More than\n 408,000 unique SNPs were used from the Illumina Infinium I and HumanHap300\n assays. FINDINGS: We have produced around 220 million genotypes in 537\n participants. This raw genotype data has been and as such is the first\n publicly accessible high-density SNP data outside of the International HapMap\n Project. We also provide here the results of genotype and allele association\n tests. INTERPRETATION: We generated publicly available genotype data for\n Parkinson's disease patients and controls so that these data can be mined and\n augmented by other researchers to identify common genetic variability that\n results in minor and moderate risk for disease.", "journal": {"name": "Lancet Neurol", "impact_factor": 0.0}, "refcount": 126, "pubmed_id": "17052657", "published_on": "2006-09-28", "metadata": "{u'essn': u'1474-4465', u'pages': u'911-6', u'locationlabel': u'', u'pubdate': u'2006 Nov', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'11', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'genome wide genotyping in parkinson s disease and neurologically normal controls first stage analysis and public release of data', u'lastauthor': u'Singleton A', u'title': u\"Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.\", u'fulljournalname': u'The Lancet. Neurology', u'publisherlocation': u'', u'sortfirstauthor': u'Fung HC', u'sortpubdate': u'2006/11/01 00:00', u'uid': u'17052657', u'pmcrefcount': 126, u'pubstatus': u'4', u'history': [{u'pubstatus': u'pubmed', u'date': u'2006/10/21 09:00'}, {u'pubstatus': u'medline', u'date': u'2006/12/09 09:00'}, {u'pubstatus': u'entrez', u'date': u'2006/10/21 09:00'}], u'issn': u'1474-4422', u'nlmuniqueid': u'101139309', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 17052652, u'refsource': u'Lancet Neurol. 2006 Nov;5(11):896-7', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Fung HC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Scholz S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Matarin M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sim\\xf3n-S\\xe1nchez J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hernandez D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Britton A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gibbs JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Langefeld C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stiegert ML', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schymick J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Okun MS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mandel RJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fernandez HH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Foote KD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rodr\\xedguez RL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Peckham E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'De Vrieze FW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gwinn-Hardy K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hardy JA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Singleton A', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Lancet Neurol', u'chapter': u'', u'articleids': [{u'value': u'17052657', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'S1474-4422(06)70578-6', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1016/S1474-4422(06)70578-6', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17052657', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17052657', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'5'}", "phenotypes": [{"body_part": "brain", "fun": false, "description": "Parkinson's disease", "rsid": "10501570"}, {"body_part": "brain", "fun": false, "description": "Parkinson's disease", "rsid": "2242330"}, {"body_part": "brain", "fun": false, "description": "Parkinson's disease", "rsid": "1480597"}], "chrom": "11", "pos": 84417846, "personal": false}, {"title": "HTRA1 promoter polymorphism in wet age-related macular degeneration.", "authors": "Dewan A", "abstract": "Age-related macular degeneration (AMD), the most common cause of\n irreversible vision loss in individuals aged older than 50 years, is\n classified as either wet (neovascular) or dry (nonneovascular). Inherited\n variation in the complement factor H gene is a major risk factor for drusen\n in dry AMD. Here we report that a single-nucleotide polymorphism in the\n promoter region of HTRA1, a serine protease gene on chromosome 10q26, is a\n major genetic risk factor for wet AMD. A whole-genome association mapping\n strategy was applied to a Chinese population, yielding a P value of <10(-11).\n Individuals with the risk-associated genotype were estimated to have a\n likelihood of developing wet AMD 10 times that of individuals with the\n wild-type genotype.", "journal": {"name": "Science", "impact_factor": 37.205}, "refcount": 264, "pubmed_id": "17053108", "published_on": "2006-10-19", "metadata": "{u'essn': u'1095-9203', u'pages': u'989-92', u'locationlabel': u'', u'pubdate': u'2006 Nov 10', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5801', u'booktitle': u'', u'epubdate': u'2006 Oct 19', u'sorttitle': u'htra1 promoter polymorphism in wet age related macular degeneration', u'lastauthor': u'Hoh J', u'title': u'HTRA1 promoter polymorphism in wet age-related macular degeneration.', u'fulljournalname': u'Science (New York, N.Y.)', u'publisherlocation': u'', u'sortfirstauthor': u'Dewan A', u'sortpubdate': u'2006/11/10 00:00', u'uid': u'17053108', u'pmcrefcount': 264, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2006/10/21 09:00'}, {u'pubstatus': u'medline', u'date': u'2006/12/09 09:00'}, {u'pubstatus': u'entrez', u'date': u'2006/10/21 09:00'}], u'issn': u'0036-8075', u'nlmuniqueid': u'0404511', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Dewan A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Liu M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hartman S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zhang SS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Liu DT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zhao C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tam PO', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chan WM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lam DS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Snyder M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barnstable C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pang CP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hoh J', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Science', u'chapter': u'', u'articleids': [{u'value': u'17053108', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1133807', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1126/science.1133807', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17053108', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17053108', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'314'}", "phenotypes": [{"body_part": "face", "fun": false, "description": "Age-related macular degeneration (wet)", "rsid": "11200638"}], "chrom": "10", "pos": 124220544, "personal": false}, {"title": "A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.", "authors": "Duerr RH", "abstract": "The inflammatory bowel diseases Crohn's disease and ulcerative\n colitis are common, chronic disorders that cause abdominal pain, diarrhea,\n and gastrointestinal bleeding. To identify genetic factors that might\n contribute to these disorders, we performed a genome-wide association study.\n We found a highly significant association between Crohn's disease and the\n IL23R gene on chromosome 1p31, which encodes a subunit of the receptor for\n the proinflammatory cytokine interleukin-23. An uncommon coding variant\n (rs11209026, c.1142G>A, p.Arg381Gln) confers strong protection against Crohn\n's disease, and additional noncoding IL23R variants are independently\n associated. Replication studies confirmed IL23R associations in independent\n cohorts of patients with Crohn's disease or ulcerative colitis. These results\n and previous studies on the proinflammatory role of IL-23 prioritize this\n signaling pathway as a therapeutic target in inflammatory bowel disease.", "journal": {"name": "Science", "impact_factor": 37.205}, "refcount": 765, "pubmed_id": "17068223", "published_on": "2006-10-26", "metadata": "{u'essn': u'1095-9203', u'pages': u'1461-3', u'locationlabel': u'', u'pubdate': u'2006 Dec 1', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5804', u'booktitle': u'', u'epubdate': u'2006 Oct 26', u'sorttitle': u'genome wide association study identifies il23r as an inflammatory bowel disease gene', u'lastauthor': u'Cho JH', u'title': u'A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.', u'fulljournalname': u'Science (New York, N.Y.)', u'publisherlocation': u'', u'sortfirstauthor': u'Duerr RH', u'sortpubdate': u'2006/12/01 00:00', u'uid': u'17068223', u'pmcrefcount': 765, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2006/10/28 09:00'}, {u'pubstatus': u'medline', u'date': u'2006/12/19 09:00'}, {u'pubstatus': u'entrez', u'date': u'2006/10/28 09:00'}], u'issn': u'0036-8075', u'nlmuniqueid': u'0404511', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 17138888, u'refsource': u'Science. 2006 Dec 1;314(5804):1403-5', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Duerr RH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Taylor KD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Brant SR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rioux JD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Silverberg MS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Daly MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Steinhart AH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Abraham C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Regueiro M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Griffiths A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dassopoulos T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bitton A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yang H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Targan S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Datta LW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kistner EO', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schumm LP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lee AT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gregersen PK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barmada MM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rotter JI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nicolae DL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cho JH', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Science', u'chapter': u'', u'articleids': [{u'value': u'17068223', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1135245', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1126/science.1135245', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC4410764', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS173381', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'17068223', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17068223', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC4410764;manuscript-id: NIHMS173381;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'314'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Inflammatory bowel disease", "rsid": "2076756"}], "chrom": "16", "pos": 50756881, "personal": false}, {"title": "Novel genes identified in a high-density genome wide association study for nicotine dependence.", "authors": "Bierut LJ", "abstract": "Tobacco use is a leading contributor to disability and death\n worldwide, and genetic factors contribute in part to the development of\n nicotine dependence. To identify novel genes for which natural variation\n contributes to the development of nicotine dependence, we performed a\n comprehensive genome wide association study using nicotine dependent smokers\n as cases and non-dependent smokers as controls. To allow the efficient,\n rapid, and cost effective screen of the genome, the study was carried out\n using a two-stage design. In the first stage, genotyping of over 2.4 million\n single nucleotide polymorphisms (SNPs) was completed in case and control\n pools. In the second stage, we selected SNPs for individual genotyping based\n on the most significant allele frequency differences between cases and\n controls from the pooled results. Individual genotyping was performed in 1050\n cases and 879 controls using 31 960 selected SNPs. The primary analysis, a\n logistic regression model with covariates of age, gender, genotype and gender\n by genotype interaction, identified 35 SNPs with P-values less than 10(-4)\n (minimum P-value 1.53 x 10(-6)). Although none of the individual findings is\n statistically significant after correcting for multiple tests, additional\n statistical analyses support the existence of true findings in this group.\n Our study nominates several novel genes, such as Neurexin 1 (NRXN1), in the\n development of nicotine dependence while also identifying a known candidate\n gene, the beta3 nicotinic cholinergic receptor. This work anticipates the\n future directions of large-scale genome wide association studies with\n state-of-the-art methodological approaches and sharing of data with the\n scientific community.", "journal": {"name": "Hum Mol Genet", "impact_factor": 0.0}, "refcount": 274, "pubmed_id": "17158188", "published_on": "2006-12-07", "metadata": "{u'essn': u'1460-2083', u'pages': u'24-35', u'locationlabel': u'', u'pubdate': u'2007 Jan 1', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'1', u'booktitle': u'', u'epubdate': u'2006 Dec 7', u'sorttitle': u'novel genes identified in a high density genome wide association study for nicotine dependence', u'lastauthor': u'Ballinger DG', u'title': u'Novel genes identified in a high-density genome wide association study for nicotine dependence.', u'fulljournalname': u'Human molecular genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Bierut LJ', u'sortpubdate': u'2007/01/01 00:00', u'uid': u'17158188', u'pmcrefcount': 274, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2006/12/13 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/04/04 09:00'}, {u'pubstatus': u'entrez', u'date': u'2006/12/13 09:00'}], u'issn': u'0964-6906', u'nlmuniqueid': u'9208958', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Bierut LJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Madden PA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Breslau N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Johnson EO', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hatsukami D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pomerleau OF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Swan GE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rutter J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bertelsen S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fox L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fugman D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Goate AM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hinrichs AL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Konvicka K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Martin NG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Montgomery GW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Saccone NL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Saccone SF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wang JC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chase GA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rice JP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ballinger DG', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Hum Mol Genet', u'chapter': u'', u'articleids': [{u'value': u'17158188', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ddl441', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1093/hmg/ddl441', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2278047', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS41082', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'17158188', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17158188', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2278047;manuscript-id: NIHMS41082;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'16'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Nicotine dependence", "rsid": "2836823"}, {"body_part": "", "fun": false, "description": "Nicotine dependence", "rsid": "4142041"}], "chrom": "21", "pos": 40380249, "personal": false}, {"title": "A genome-wide association study identifies novel risk loci for type 2 diabetes.", "authors": "Sladek R", "abstract": "Type 2 diabetes mellitus results from the interaction of\n environmental factors with a combination of genetic variants, most of which\n were hitherto unknown. A systematic search for these variants was recently\n made possible by the development of high-density arrays that permit the\n genotyping of hundreds of thousands of polymorphisms. We tested 392,935\n single-nucleotide polymorphisms in a French case-control cohort. Markers with\n the most significant difference in genotype frequencies between cases of type\n 2 diabetes and controls were fast-tracked for testing in a second cohort.\n This identified four loci containing variants that confer type 2 diabetes\n risk, in addition to confirming the known association with the TCF7L2 gene.\n These loci include a non-synonymous polymorphism in the zinc transporter\n SLC30A8, which is expressed exclusively in insulin-producing beta-cells, and\n two linkage disequilibrium blocks that contain genes potentially involved in\n beta-cell development or function (IDE-KIF11-HHEX and EXT2-ALX4). These\n associations explain a substantial portion of disease risk and constitute\n proof of principle for the genome-wide approach to the elucidation of complex\n genetic traits.", "journal": {"name": "Nature", "impact_factor": 0.0}, "refcount": 874, "pubmed_id": "17293876", "published_on": "2007-02-11", "metadata": "{u'essn': u'1476-4687', u'pages': u'881-5', u'locationlabel': u'', u'pubdate': u'2007 Feb 22', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'7130', u'booktitle': u'', u'epubdate': u'2007 Feb 11', u'sorttitle': u'genome wide association study identifies novel risk loci for type 2 diabetes', u'lastauthor': u'Froguel P', u'title': u'A genome-wide association study identifies novel risk loci for type 2 diabetes.', u'fulljournalname': u'Nature', u'publisherlocation': u'', u'sortfirstauthor': u'Sladek R', u'sortpubdate': u'2007/02/22 00:00', u'uid': u'17293876', u'pmcrefcount': 874, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2006/11/11 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/01/23 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/02/13 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/03/21 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/02/13 09:00'}], u'issn': u'0028-0836', u'nlmuniqueid': u'0410462', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 17293879, u'refsource': u'Nature. 2007 Feb 22;445(7130):828-30', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Sladek R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rocheleau G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rung J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dina C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Shen L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Serre D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Boutin P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vincent D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Belisle A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hadjadj S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Balkau B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heude B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Charpentier G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hudson TJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Montpetit A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pshezhetsky AV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Prentki M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Posner BI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Balding DJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Meyre D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Polychronakos C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Froguel P', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nature', u'chapter': u'', u'articleids': [{u'value': u'17293876', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'nature05616', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/nature05616', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17293876', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17293876', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'445'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "1111875"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "13266634"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "7903146"}], "chrom": "10", "pos": 94462882, "personal": false}, {"title": "Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.", "authors": "Schymick JC", "abstract": "The cause of sporadic ALS is currently unknown.\n Despite evidence for a role for genetics, no common genetic variants have\n been unequivocally linked to sporadic ALS. We sought to identify genetic\n variants associated with an increased or decreased risk for developing ALS in\n a cohort of American sporadic cases. METHODS: We undertook a genome-wide\n association study using publicly available samples from 276 patients with\n sporadic ALS and 271 neurologically normal controls. 555 352 unique SNPs were\n assayed in each sample using the Illumina Infinium II HumanHap550 SNP chip.\n FINDINGS: More than 300 million genotypes were produced in 547 participants.\n These raw genotype data are freely available on the internet and represent\n the first publicly accessible SNP data for ALS cases. 34 SNPs with a p value\n less than 0.0001 (two degrees of freedom) were found, although none of these\n reached significance after Bonferroni correction. INTERPRETATION: We\n generated publicly available genotype data for sporadic ALS patients and\n controls. No single locus was definitively associated with increased risk of\n developing disease, although potentially associated candidate SNPs were\n identified.", "journal": {"name": "Lancet Neurol", "impact_factor": 0.0}, "refcount": 63, "pubmed_id": "17362836", "published_on": "2007-02-20", "metadata": "{u'essn': u'1474-4465', u'pages': u'322-8', u'locationlabel': u'', u'pubdate': u'2007 Apr', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'4', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'genome wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls first stage analysis and public release of data', u'lastauthor': u'Traynor BJ', u'title': u'Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.', u'fulljournalname': u'The Lancet. Neurology', u'publisherlocation': u'', u'sortfirstauthor': u'Schymick JC', u'sortpubdate': u'2007/04/01 00:00', u'uid': u'17362836', u'pmcrefcount': 63, u'pubstatus': u'4', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/03/17 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/05/12 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/03/17 09:00'}], u'issn': u'1474-4422', u'nlmuniqueid': u'101139309', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 17362828, u'refsource': u'Lancet Neurol. 2007 Apr;6(4):291-2', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Schymick JC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Scholz SW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fung HC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Britton A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Arepalli S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gibbs JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lombardo F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Matarin M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kasperaviciute D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hernandez DG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Crews C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bruijn L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rothstein J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mora G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Restagno G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chi\\xf2 A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Singleton A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hardy J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Traynor BJ', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Lancet Neurol', u'chapter': u'', u'articleids': [{u'value': u'17362836', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'S1474-4422(07)70037-6', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1016/S1474-4422(07)70037-6', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17362836', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17362836', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'6'}", "phenotypes": [{"body_part": "brain", "fun": false, "description": "Amyotrophic lateral sclerosis", "rsid": "4363506"}, {"body_part": "brain", "fun": false, "description": "Amyotrophic lateral sclerosis", "rsid": "12680546"}, {"body_part": "brain", "fun": false, "description": "Amyotrophic lateral sclerosis", "rsid": "6013382"}, {"body_part": "brain", "fun": false, "description": "Amyotrophic lateral sclerosis", "rsid": "2782931"}, {"body_part": "brain", "fun": false, "description": "Amyotrophic lateral sclerosis", "rsid": "16984239"}, {"body_part": "brain", "fun": false, "description": "Amyotrophic lateral sclerosis", "rsid": "11099864"}], "chrom": "10", "pos": 129274503, "personal": false}, {"title": "Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4.", "authors": "Libioulle C", "abstract": "To identify novel susceptibility loci for Crohn disease (CD), we\n undertook a genome-wide association study with more than 300,000 SNPs\n characterized in 547 patients and 928 controls. We found three chromosome\n regions that provided evidence of disease association with p-values between\n 10(-6) and 10(-9). Two of these (IL23R on Chromosome 1 and CARD15 on\n Chromosome 16) correspond to genes previously reported to be associated with\n CD. In addition, a 250-kb region of Chromosome 5p13.1 was found to contain\n multiple markers with strongly suggestive evidence of disease association\n (including four markers with p < 10(-7)). We replicated the results for\n 5p13.1 by studying 1,266 additional CD patients, 559 additional controls, and\n 428 trios. Significant evidence of association (p < 4 x 10(-4)) was found in\n case/control comparisons with the replication data, while associated alleles\n were over-transmitted to affected offspring (p < 0.05), thus confirming that\n the 5p13.1 locus contributes to CD susceptibility. The CD-associated 250-kb\n region was saturated with 111 SNP markers. Haplotype analysis supports a\n complex locus architecture with multiple variants contributing to disease\n susceptibility. The novel 5p13.1 CD locus is contained within a 1.25-Mb gene\n desert. We present evidence that disease-associated alleles correlate with\n quantitative expression levels of the prostaglandin receptor EP4, PTGER4, the\n gene that resides closest to the associated region. Our results identify a\n major new susceptibility locus for CD, and suggest that genetic variants\n associated with disease risk at this locus could modulate cis-acting\n regulatory elements of PTGER4.", "journal": {"name": "PLoS Genet", "impact_factor": 0.0}, "refcount": 165, "pubmed_id": "17447842", "published_on": "2007-03-05", "metadata": "{u'essn': u'1553-7404', u'pages': u'e58', u'locationlabel': u'', u'pubdate': u'2007 Apr 20', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'4', u'booktitle': u'', u'epubdate': u'2007 Mar 5', u'sorttitle': u'novel crohn disease locus identified by genome wide association maps to a gene desert on 5p13 1 and modulates expression of ptger4', u'lastauthor': u'Georges M', u'title': u'Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4.', u'fulljournalname': u'PLoS genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Libioulle C', u'sortpubdate': u'2007/04/20 00:00', u'uid': u'17447842', u'pmcrefcount': 165, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/02/15 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/02/27 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/04/24 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/06/20 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/04/24 09:00'}], u'issn': u'1553-7390', u'nlmuniqueid': u'101239074', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Libioulle C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Louis E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hansoul S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sandor C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Farnir F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Franchimont D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vermeire S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dewit O', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'de Vos M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dixon A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Demarche B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gut I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heath S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Foglio M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Liang L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Laukens D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mni M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zelenika D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Van Gossum A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rutgeerts P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Belaiche J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lathrop M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Georges M', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'PLoS Genet', u'chapter': u'', u'articleids': [{u'value': u'17447842', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'07-PLGE-RA-0108R2', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1371/journal.pgen.0030058', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1853118', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17447842', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17447842', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1853118;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'3'}", "phenotypes": [{"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "1373692"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "11209026"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "5743289"}], "chrom": "5", "pos": 40431183, "personal": false}, {"title": "Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia.", "authors": "Lencz T", "abstract": "Schizophrenia is a strongly heritable disorder, and\n identification of potential candidate genes has accelerated in recent years.\n Genomewide scans have identified multiple large linkage regions across the\n genome, with fine-mapping studies and other investigations of biologically\n plausible targets demonstrating several promising candidate genes of modest\n effect. The recent introduction of technological platforms for whole-genome\n association (WGA) studies can provide an opportunity to rapidly identify\n novel targets, although no WGA studies have been reported in the psychiatric\n literature to date. We report results of a case-control WGA study in\n schizophrenia, examining approximately 500 000 markers, which revealed a\n strong effect (P=3.7 x 10(-7)) of a novel locus (rs4129148) near the CSF2RA\n (colony stimulating factor, receptor 2 alpha) gene in the pseudoautosomal\n region. Sequencing of CSF2RA and its neighbor, IL3RA (interleukin 3 receptor\n alpha) in an independent case-control cohort revealed both common intronic\n haplotypes and several novel, rare missense variants associated with\n schizophrenia. The presence of cytokine receptor abnormalities in\n schizophrenia may help explain prior epidemiologic data relating the risk for\n this illness to altered rates of autoimmune disorders, prenatal infection and\n familial leukemia.", "journal": {"name": "Mol Psychiatry", "impact_factor": 0.0}, "refcount": 86, "pubmed_id": "17522711", "published_on": "2007-03-20", "metadata": "{u'essn': u'1476-5578', u'pages': u'572-80', u'locationlabel': u'', u'pubdate': u'2007 Jun', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'6', u'booktitle': u'', u'epubdate': u'2007 Mar 20', u'sorttitle': u'converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia', u'lastauthor': u'Malhotra AK', u'title': u'Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia.', u'fulljournalname': u'Molecular psychiatry', u'publisherlocation': u'', u'sortfirstauthor': u'Lencz T', u'sortpubdate': u'2007/06/01 00:00', u'uid': u'17522711', u'pmcrefcount': 86, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/05/25 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/08/08 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/05/25 09:00'}], u'issn': u'1359-4184', u'nlmuniqueid': u'9607835', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Lencz T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Morgan TV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Athanasiou M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dain B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Reed CR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kane JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kucherlapati R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Malhotra AK', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Mol Psychiatry', u'chapter': u'', u'articleids': [{u'value': u'17522711', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'4001983', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/sj.mp.4001983', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17522711', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17522711', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'12'}", "phenotypes": [{"body_part": "psychological", "fun": false, "description": "Schizophrenia", "rsid": "4129148"}], "chrom": "X", "pos": 990180, "personal": false}, {"title": "A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease.", "authors": "Coon KD", "abstract": "OBJECTIVE: While the apolipoprotein E (APOE) epsilon allele is a\n well-established risk factor for late-onset Alzheimer's disease (AD), initial\n genome scans using microsatellite markers in late-onset AD failed to identify\n this locus on chromosome 19. Recently developed methods for the simultaneous\n assessment of hundreds of thousands of single nucleotide polymorphisms (SNPs)\n promise to help more precisely identify loci that contribute to the risk of\n AD and other common multigenic conditions. We sought here to demonstrate that\n more precise identification of loci that are associated with complex,\n multi-genic genetic disorders can be achieved using ultra-high-density\n whole-genome associations by demonstrating their ability to identify the APOE\n locus as a major susceptibility gene for late-onset AD, despite the absence\n of SNPs within the APOE locus itself, as well as to refine odds ratios (ORs)\n based on gold-standard phenotyping of the study population. METHOD: An\n individualized genome-wide association study using 502,627 SNPs was performed\n in 1086 his-topathologically verified AD cases and controls to determine the\n OR associated with genes predisposing to Alzheimer's disease. RESULTS: As\n predicted, ultra-high-density SNP genotyping, in contrast to traditional\n microsatellite-based genome screening approaches, precisely identified the\n APOE locus as having a significant association with late-onset AD. SNP\n rs4420638 on chromosome 19, located 14 kilobase pairs distal to the APOE\n epsilon variant, significantly distinguished between AD cases and controls\n (Bonferroni corrected p value = 5.30 x 10(-34), OR = 4.01) and was far more\n strongly associated with the risk of AD than any other SNP of the 502,627\n tested. CONCLUSION: This study provides empirical support for the suggestion\n that the APOE locus is the major susceptibility gene for late-onset AD in the\n human genome, with an OR significantly greater than any other locus in the\n human genome. It also supports the feasibility of the ultra-high-density\n whole-genome association approach to the study of AD and other heritable\n phenotypes. These whole-genome association studies show great promise to\n identify additional genes that contribute to the risk of AD.", "journal": {"name": "J Clin Psychiatry", "impact_factor": 0.0}, "refcount": 152, "pubmed_id": "17474819", "published_on": "2007-04-01", "metadata": "{u'essn': u'1555-2101', u'pages': u'613-8', u'locationlabel': u'', u'pubdate': u'2007 Apr', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'4', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'high density whole genome association study reveals that apoe is the major susceptibility gene for sporadic late onset alzheimer s disease', u'lastauthor': u'Stephan DA', u'title': u\"A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease.\", u'fulljournalname': u'The Journal of clinical psychiatry', u'publisherlocation': u'', u'sortfirstauthor': u'Coon KD', u'sortpubdate': u'2007/04/01 00:00', u'uid': u'17474819', u'pmcrefcount': 152, u'pubstatus': u'4', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/05/04 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/05/11 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/05/04 09:00'}], u'issn': u'0160-6689', u'nlmuniqueid': u'7801243', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 17474818, u'refsource': u'J Clin Psychiatry. 2007 Apr;68(4):611-2', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Coon KD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Myers AJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Craig DW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Webster JA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pearson JV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lince DH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zismann VL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Beach TG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Leung D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bryden L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Halperin RF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Marlowe L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kaleem M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Walker DG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ravid R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heward CB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rogers J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Papassotiropoulos A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Reiman EM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hardy J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stephan DA', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'J Clin Psychiatry', u'chapter': u'', u'articleids': [{u'value': u'17474819', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'17474819', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17474819', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'68'}", "phenotypes": [{"body_part": "brain", "fun": false, "description": "Alzheimer's disease (late onset)", "rsid": "4420638"}], "chrom": "19", "pos": 45422946, "personal": false}, {"title": "Identification of PVT1 as a candidate gene for end-stage renal disease in type 2 diabetes using a pooling-based genome-wide single nucleotide polymorphism association study.", "authors": "Hanson RL", "abstract": "To identify genetic variants contributing to end-stage renal\n disease (ESRD) in type 2 diabetes, we performed a genome-wide analysis of\n 115,352 single nucleotide polymorphisms (SNPs) in pools of 105 unrelated case\n subjects with ESRD and 102 unrelated control subjects who have had type 2\n diabetes for > or =10 years without macroalbuminuria. Using a sliding window\n statistic of ranked SNPs, we identified a 200-kb region on 8q24 harboring\n three SNPs showing substantial differences in allelic frequency between case\n and control pools. These SNPs were genotyped in individuals comprising each\n pool, and strong evidence for association was found with rs2720709 (P =\n 0.000021; odds ratio 2.57 [95% CI 1.66-3.96]), which is located in the\n plasmacytoma variant translocation gene PVT1. We sequenced all exons,\n exon-intron boundaries, and the promoter of PVT1 and identified 47 variants,\n 11 of which represented nonredundant markers with minor allele frequency > or\n =0.05. We subsequently genotyped these 11 variants and an additional 87 SNPs\n identified through public databases in 319-kb flanking rs2720709 (\n approximately 1 SNP/3.5 kb); 23 markers were associated with ESRD at P <\n 0.01. The strongest evidence for association was found for rs2648875 (P =\n 0.0000018; 2.97 [1.90-4.65]), which maps to intron 8 of PVT1. Together, these\n results suggest that PVT1 may contribute to ESRD susceptibility in diabetes.", "journal": {"name": "Diabetes", "impact_factor": 0.0}, "refcount": 43, "pubmed_id": "17395743", "published_on": "2007-04-01", "metadata": "{u'essn': u'1939-327X', u'pages': u'975-83', u'locationlabel': u'', u'pubdate': u'2007 Apr', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'4', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'identification of pvt1 as a candidate gene for end stage renal disease in type 2 diabetes using a pooling based genome wide single nucleotide polymorphism association study', u'lastauthor': u'Wolford JK', u'title': u'Identification of PVT1 as a candidate gene for end-stage renal disease in type 2 diabetes using a pooling-based genome-wide single nucleotide polymorphism association study.', u'fulljournalname': u'Diabetes', u'publisherlocation': u'', u'sortfirstauthor': u'Hanson RL', u'sortpubdate': u'2007/04/01 00:00', u'uid': u'17395743', u'pmcrefcount': 43, u'pubstatus': u'4', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/03/31 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/07/20 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/03/31 09:00'}], u'issn': u'0012-1797', u'nlmuniqueid': u'0372763', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Hanson RL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Craig DW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Millis MP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yeatts KA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kobes S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pearson JV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lee AM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Knowler WC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nelson RG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wolford JK', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Diabetes', u'chapter': u'', u'articleids': [{u'value': u'17395743', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'56/4/975', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.2337/db06-1072', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17395743', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17395743', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'56'}", "phenotypes": [{"body_part": "kidney", "fun": false, "description": "End-stage renal disease", "rsid": "2648875"}], "chrom": "8", "pos": 129072161, "personal": false}, {"title": "Genome-wide association study of prostate cancer identifies a second risk locus at 8q24.", "authors": "Yeager M", "abstract": "Recently, common variants on human chromosome 8q24 were found to\n be associated with prostate cancer risk. While conducting a genome-wide\n association study in the Cancer Genetic Markers of Susceptibility project\n with 550,000 SNPs in a nested case-control study (1,172 cases and 1,157\n controls of European origin), we identified a new association at 8q24 with an\n independent effect on prostate cancer susceptibility. The most significant\n signal is 70 kb centromeric to the previously reported SNP, rs1447295, but\n shows little evidence of linkage disequilibrium with it. A combined analysis\n with four additional studies (total: 4,296 cases and 4,299 controls) confirms\n association with prostate cancer for rs6983267 in the centromeric locus (P =\n 9.42 x 10(-13); heterozygote odds ratio (OR): 1.26, 95% confidence interval\n (c.i.): 1.13-1.41; homozygote OR: 1.58, 95% c.i.: 1.40-1.78). Each SNP\n remained significant in a joint analysis after adjusting for the other\n (rs1447295 P = 1.41 x 10(-11); rs6983267 P = 6.62 x 10(-10)). These\n observations, combined with compelling evidence for a recombination hotspot\n between the two markers, indicate the presence of at least two independent\n loci within 8q24 that contribute to prostate cancer in men of European\n ancestry. We estimate that the population attributable risk of the new locus,\n marked by rs6983267, is higher than the locus marked by rs1447295 (21% versus\n 9%).", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 483, "pubmed_id": "17401363", "published_on": "2007-04-01", "metadata": "{u'essn': u'1546-1718', u'pages': u'645-9', u'locationlabel': u'', u'pubdate': u'2007 May', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5', u'booktitle': u'', u'epubdate': u'2007 Apr 1', u'sorttitle': u'genome wide association study of prostate cancer identifies a second risk locus at 8q24', u'lastauthor': u'Thomas G', u'title': u'Genome-wide association study of prostate cancer identifies a second risk locus at 8q24.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Yeager M', u'sortpubdate': u'2007/05/01 00:00', u'uid': u'17401363', u'pmcrefcount': 483, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2006/01/16 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/03/07 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/04/03 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/01/03 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/04/03 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 17460686, u'refsource': u'Nat Genet. 2007 May;39(5):579-80', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': 17855855, u'refsource': u'Eur Urol. 2007 Sep;52(3):920-1', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Yeager M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Orr N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hayes RB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jacobs KB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kraft P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wacholder S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Minichiello MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fearnhead P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yu K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chatterjee N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wang Z', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Welch R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Staats BJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Calle EE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Feigelson HS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thun MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rodriguez C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Albanes D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Virtamo J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Weinstein S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schumacher FR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Giovannucci E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Willett WC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cancel-Tassin G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cussenot O', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Valeri A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Andriole GL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gelmann EP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tucker M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gerhard DS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fraumeni JF Jr', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hoover R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hunter DJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chanock SJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thomas G', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'17401363', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng2022', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng2022', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17401363', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17401363', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'39'}", "phenotypes": [{"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "6983267"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "1447295"}], "chrom": "8", "pos": 128413305, "personal": true}, {"title": "Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24.", "authors": "Gudmundsson J", "abstract": "Prostate cancer is the most prevalent noncutaneous cancer in\n males in developed regions, with African American men having among the\n highest worldwide incidence and mortality rates. Here we report a second\n genetic variant in the 8q24 region that, in conjunction with another variant\n we recently discovered, accounts for about 11%-13% of prostate cancer cases\n in individuals of European descent and 31% of cases in African Americans. We\n made the current discovery through a genome-wide association scan of 1,453\n affected Icelandic individuals and 3,064 controls using the Illumina\n HumanHap300 BeadChip followed by four replication studies. A key step in the\n discovery was the construction of a 14-SNP haplotype that efficiently tags a\n relatively uncommon (2%-4%) susceptibility variant in individuals of European\n descent that happens to be very common (approximately 42%) in African\n Americans. The newly identified variant shows a stronger association with\n affected individuals who have an earlier age at diagnosis.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 362, "pubmed_id": "17401366", "published_on": "2007-04-01", "metadata": "{u'essn': u'1546-1718', u'pages': u'631-7', u'locationlabel': u'', u'pubdate': u'2007 May', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5', u'booktitle': u'', u'epubdate': u'2007 Apr 1', u'sorttitle': u'genome wide association study identifies a second prostate cancer susceptibility variant at 8q24', u'lastauthor': u'Stefansson K', u'title': u'Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Gudmundsson J', u'sortpubdate': u'2007/05/01 00:00', u'uid': u'17401366', u'pmcrefcount': 362, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2006/12/06 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/02/16 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/04/03 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/01/03 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/04/03 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 17460686, u'refsource': u'Nat Genet. 2007 May;39(5):579-80', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Gudmundsson J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sulem P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Manolescu A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Amundadottir LT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudbjartsson D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Helgason A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rafnar T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bergthorsson JT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Agnarsson BA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Baker A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sigurdsson A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Benediktsdottir KR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jakobsdottir M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Xu J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Blondal T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kostic J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sun J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ghosh S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stacey SN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mouy M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Saemundsdottir J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Backman VM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kristjansson K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tres A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Partin AW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Albers-Akkers MT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Godino-Ivan Marcos J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Walsh PC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Swinkels DW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Navarrete S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Isaacs SD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Aben KK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Graif T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cashy J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ruiz-Echarri M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wiley KE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Suarez BK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Witjes JA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Frigge M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ober C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonsson E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Einarsson GV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mayordomo JI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kiemeney LA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Isaacs WB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Catalona WJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barkardottir RB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gulcher JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorsteinsdottir U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kong A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansson K', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'17401366', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng1999', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng1999', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17401366', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17401366', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'39'}", "phenotypes": [{"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "16901979"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "1447295"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": ""}], "chrom": "8", "pos": 128124916, "personal": true}, {"title": "A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.", "authors": "Frayling TM", "abstract": "Obesity is a serious international health problem that increases\n the risk of several common diseases. The genetic factors predisposing to\n obesity are poorly understood. A genome-wide search for type 2\n diabetes-susceptibility genes identified a common variant in the FTO (fat\n mass and obesity associated) gene that predisposes to diabetes through an\n effect on body mass index (BMI). An additive association of the variant with\n BMI was replicated in 13 cohorts with 38,759 participants. The 16% of adults\n who are homozygous for the risk allele weighed about 3 kilograms more and had\n 1.67-fold increased odds of obesity when compared with those not inheriting a\n risk allele. This association was observed from age 7 years upward and\n reflects a specific increase in fat mass.", "journal": {"name": "Science", "impact_factor": 37.205}, "refcount": 1086, "pubmed_id": "17434869", "published_on": "2007-04-12", "metadata": "{u'essn': u'1095-9203', u'pages': u'889-94', u'locationlabel': u'', u'pubdate': u'2007 May 11', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5826', u'booktitle': u'', u'epubdate': u'2007 Apr 12', u'sorttitle': u'common variant in the fto gene is associated with body mass index and predisposes to childhood and adult obesity', u'lastauthor': u'McCarthy MI', u'title': u'A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.', u'fulljournalname': u'Science (New York, N.Y.)', u'publisherlocation': u'', u'sortfirstauthor': u'Frayling TM', u'sortpubdate': u'2007/05/11 00:00', u'uid': u'17434869', u'pmcrefcount': 1086, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/04/17 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/05/31 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/04/17 09:00'}], u'issn': u'0036-8075', u'nlmuniqueid': u'0404511', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 24951667, u'refsource': u'Circ Cardiovasc Genet. 2014 Jun;7(3):395-6', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Frayling TM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Timpson NJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Weedon MN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zeggini E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Freathy RM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lindgren CM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Perry JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Elliott KS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lango H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rayner NW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Shields B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Harries LW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barrett JC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ellard S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Groves CJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Knight B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Patch AM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ness AR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ebrahim S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lawlor DA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ring SM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ben-Shlomo Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jarvelin MR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sovio U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bennett AJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Melzer D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ferrucci L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Loos RJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barroso I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wareham NJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Karpe F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Owen KR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cardon LR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Walker M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hitman GA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Palmer CN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Doney AS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Morris AD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Smith GD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hattersley AT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McCarthy MI', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Science', u'chapter': u'', u'articleids': [{u'value': u'17434869', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1141634', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1126/science.1141634', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2646098', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS45574', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'17434869', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17434869', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2646098;manuscript-id: NIHMS45574;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'316'}", "phenotypes": [{"body_part": "weight", "fun": true, "description": "Body mass index", "rsid": "9939609"}], "chrom": "16", "pos": 53820527, "personal": false}, {"title": "Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.", "authors": "Rioux JD", "abstract": "We present a genome-wide association study of ileal Crohn\n disease and two independent replication studies that identify several new\n regions of association to Crohn disease. Specifically, in addition to the\n previously established CARD15 and IL23R associations, we identified strong\n and significantly replicated associations (combined P < 10(-10)) with an\n intergenic region on 10q21.1 and a coding variant in ATG16L1, the latter of\n which was also recently reported by another group. We also report strong\n associations with independent replication to variation in the genomic regions\n encoding PHOX2B, NCF4 and a predicted gene on 16q24.1 (FAM92B). Finally, we\n demonstrate that ATG16L1 is expressed in intestinal epithelial cell lines and\n that functional knockdown of this gene abrogates autophagy of Salmonella\n typhimurium. Together, these findings suggest that autophagy and host cell\n responses to intracellular microbes are involved in the pathogenesis of Crohn\n disease.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 527, "pubmed_id": "17435756", "published_on": "2007-04-15", "metadata": "{u'essn': u'1546-1718', u'pages': u'596-604', u'locationlabel': u'', u'pubdate': u'2007 May', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5', u'booktitle': u'', u'epubdate': u'2007 Apr 15', u'sorttitle': u'genome wide association study identifies new susceptibility loci for crohn disease and implicates autophagy in disease pathogenesis', u'lastauthor': u'Brant SR', u'title': u'Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Rioux JD', u'sortpubdate': u'2007/05/01 00:00', u'uid': u'17435756', u'pmcrefcount': 527, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2006/12/28 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/03/26 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/04/17 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/01/03 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/04/17 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Rioux JD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Xavier RJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Taylor KD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Silverberg MS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Goyette P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Huett A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Green T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kuballa P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barmada MM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Datta LW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Shugart YY', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Griffiths AM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Targan SR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ippoliti AF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bernard EJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mei L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nicolae DL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Regueiro M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schumm LP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Steinhart AH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rotter JI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Duerr RH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cho JH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Daly MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Brant SR', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'17435756', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng2032', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng2032', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2757939', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS54814', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'17435756', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17435756', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2757939;manuscript-id: NIHMS54814;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'39'}", "phenotypes": [{"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "2076756"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "7517847"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "224136"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "2241880"}], "chrom": "2", "pos": 234183368, "personal": false}, {"title": "Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.", "authors": "Saxena R", "abstract": "New strategies for prevention and treatment of type 2 diabetes\n (T2D) require improved insight into disease etiology. We analyzed 386,731\n common single-nucleotide polymorphisms (SNPs) in 1464 patients with T2D and\n 1467 matched controls, each characterized for measures of glucose metabolism,\n lipids, obesity, and blood pressure. With collaborators (FUSION and\n WTCCC/UKT2D), we identified and confirmed three loci associated with T2D-in a\n noncoding region near CDKN2A and CDKN2B, in an intron of IGF2BP2, and an\n intron of CDKAL1-and replicated associations near HHEX and in SLC30A8 found\n by a recent whole-genome association study. We identified and confirmed\n association of a SNP in an intron of glucokinase regulatory protein (GCKR)\n with serum triglycerides. The discovery of associated variants in unsuspected\n genes and outside coding regions illustrates the ability of genome-wide\n association studies to provide potentially important clues to the\n pathogenesis of common diseases.", "journal": {"name": "Science", "impact_factor": 37.205}, "refcount": 1023, "pubmed_id": "17463246", "published_on": "2007-04-26", "metadata": "{u'essn': u'1095-9203', u'pages': u'1331-6', u'locationlabel': u'', u'pubdate': u'2007 Jun 1', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5829', u'booktitle': u'', u'epubdate': u'2007 Apr 26', u'sorttitle': u'genome wide association analysis identifies loci for type 2 diabetes and triglyceride levels', u'lastauthor': u'Purcell S', u'title': u'Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.', u'fulljournalname': u'Science (New York, N.Y.)', u'publisherlocation': u'', u'sortfirstauthor': u'Saxena R', u'sortpubdate': u'2007/06/01 00:00', u'uid': u'17463246', u'pmcrefcount': 1023, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/04/28 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/06/15 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/04/28 09:00'}], u'issn': u'0036-8075', u'nlmuniqueid': u'0404511', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes of BioMedical Research.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Saxena R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Voight BF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lyssenko V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Burtt NP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'de Bakker PI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chen H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Roix JJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kathiresan S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hirschhorn JN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Daly MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hughes TE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Groop L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Altshuler D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Almgren P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Florez JC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Meyer J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ardlie K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bengtsson Bostr\\xf6m K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Isomaa B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lettre G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lindblad U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lyon HN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Melander O', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Newton-Cheh C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nilsson P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Orho-Melander M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'R\\xe5stam L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Speliotes EK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Taskinen MR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tuomi T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Guiducci C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Berglund A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Carlson J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gianniny L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hackett R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hall L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Holmkvist J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Laurila E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sj\\xf6gren M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sterner M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Surti A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Svensson M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Svensson M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tewhey R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Blumenstiel B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Parkin M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Defelice M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barry R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Brodeur W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Camarata J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chia N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fava M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gibbons J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Handsaker B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Healy C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nguyen K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gates C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sougnez C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gage D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nizzari M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gabriel SB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chirn GW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ma Q', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Parikh H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Richardson D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ricke D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Purcell S', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Science', u'chapter': u'', u'articleids': [{u'value': u'17463246', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1142358', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1126/science.1142358', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17463246', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17463246', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'316'}", "phenotypes": [{"body_part": "heart", "fun": false, "description": "HDL cholesterol levels", "rsid": "1800775"}, {"body_part": "heart", "fun": false, "description": "LDL cholesterol levels", "rsid": "693"}, {"body_part": "heart", "fun": false, "description": "LDL cholesterol levels", "rsid": "4420638"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "17482753"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "780094"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "7754840"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "1111875"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "13266634"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "1801282"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "7903146"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "5219"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "10811661"}, {"body_part": "", "fun": false, "description": "Apolipoprotein A1 levels", "rsid": "1800775"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "4402960"}], "chrom": "6", "pos": 20661250, "personal": false}, {"title": "A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.", "authors": "Scott LJ", "abstract": "Identifying the genetic variants that increase the risk of type\n 2 diabetes (T2D) in humans has been a formidable challenge. Adopting a\n genome-wide association strategy, we genotyped 1161 Finnish T2D cases and\n 1174 Finnish normal glucose-tolerant (NGT) controls with >315,000\n single-nucleotide polymorphisms (SNPs) and imputed genotypes for an\n additional >2 million autosomal SNPs. We carried out association analysis\n with these SNPs to identify genetic variants that predispose to T2D, compared\n our T2D association results with the results of two similar studies, and\n genotyped 80 SNPs in an additional 1215 Finnish T2D cases and 1258 Finnish\n NGT controls. We identify T2D-associated variants in an intergenic region of\n chromosome 11p12, contribute to the identification of T2D-associated variants\n near the genes IGF2BP2 and CDKAL1 and the region of CDKN2A and CDKN2B, and\n confirm that variants near TCF7L2, SLC30A8, HHEX, FTO, PPARG, and KCNJ11 are\n associated with T2D risk. This brings the number of T2D loci now confidently\n identified to at least 10.", "journal": {"name": "Science", "impact_factor": 37.205}, "refcount": 997, "pubmed_id": "17463248", "published_on": "2007-04-26", "metadata": "{u'essn': u'1095-9203', u'pages': u'1341-5', u'locationlabel': u'', u'pubdate': u'2007 Jun 1', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5829', u'booktitle': u'', u'epubdate': u'2007 Apr 26', u'sorttitle': u'genome wide association study of type 2 diabetes in finns detects multiple susceptibility variants', u'lastauthor': u'Boehnke M', u'title': u'A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.', u'fulljournalname': u'Science (New York, N.Y.)', u'publisherlocation': u'', u'sortfirstauthor': u'Scott LJ', u'sortpubdate': u'2007/06/01 00:00', u'uid': u'17463248', u'pmcrefcount': 997, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/04/28 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/06/15 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/04/28 09:00'}], u'issn': u'0036-8075', u'nlmuniqueid': u'0404511', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Scott LJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mohlke KL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bonnycastle LL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Willer CJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Li Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Duren WL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Erdos MR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stringham HM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chines PS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jackson AU', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Prokunina-Olsson L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ding CJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Swift AJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Narisu N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hu T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pruim R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Xiao R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Li XY', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Conneely KN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Riebow NL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sprau AG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tong M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'White PP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hetrick KN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barnhart MW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bark CW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Goldstein JL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Watkins L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Xiang F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Saramies J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Buchanan TA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Watanabe RM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Valle TT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kinnunen L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Abecasis GR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pugh EW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Doheny KF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bergman RN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tuomilehto J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Collins FS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Boehnke M', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Science', u'chapter': u'', u'articleids': [{u'value': u'17463248', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1142382', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1126/science.1142382', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC3214617', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS322992', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'17463248', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17463248', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC3214617;manuscript-id: NIHMS322992;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'316'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "9300039"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "7903146"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "4402960"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "7754840"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "8050136"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "1801282"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "13266634"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "1111875"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "5219"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "10811661"}], "chrom": "11", "pos": 41915366, "personal": false}, {"title": "Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.", "authors": "Zeggini E", "abstract": "The molecular mechanisms involved in the development of type 2\n diabetes are poorly understood. Starting from genome-wide genotype data for\n 1924 diabetic cases and 2938 population controls generated by the Wellcome\n Trust Case Control Consortium, we set out to detect replicated diabetes\n association signals through analysis of 3757 additional cases and 5346\n controls and by integration of our findings with equivalent data from other\n international consortia. We detected diabetes susceptibility loci in and\n around the genes CDKAL1, CDKN2A/CDKN2B, and IGF2BP2 and confirmed the\n recently described associations at HHEX/IDE and SLC30A8. Our findings provide\n insight into the genetic architecture of type 2 diabetes, emphasizing the\n contribution of multiple variants of modest effect. The regions identified\n underscore the importance of pathways influencing pancreatic beta cell\n development and function in the etiology of type 2 diabetes.", "journal": {"name": "Science", "impact_factor": 37.205}, "refcount": 799, "pubmed_id": "17463249", "published_on": "2007-04-26", "metadata": "{u'essn': u'1095-9203', u'pages': u'1336-41', u'locationlabel': u'', u'pubdate': u'2007 Jun 1', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5829', u'booktitle': u'', u'epubdate': u'2007 Apr 26', u'sorttitle': u'replication of genome wide association signals in uk samples reveals risk loci for type 2 diabetes', u'lastauthor': u'Hattersley AT', u'title': u'Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.', u'fulljournalname': u'Science (New York, N.Y.)', u'publisherlocation': u'', u'sortfirstauthor': u'Zeggini E', u'sortpubdate': u'2007/06/01 00:00', u'uid': u'17463249', u'pmcrefcount': 799, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/04/28 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/06/15 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/04/28 09:00'}], u'issn': u'0036-8075', u'nlmuniqueid': u'0404511', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': u'', u'refsource': u'Science. 2007 Aug 24;317(5841):1035-6', u'reftype': u'Erratum in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Zeggini E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Weedon MN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lindgren CM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Frayling TM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Elliott KS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lango H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Timpson NJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Perry JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rayner NW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Freathy RM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barrett JC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Shields B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Morris AP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ellard S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Groves CJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Harries LW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Marchini JL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Owen KR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Knight B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cardon LR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Walker M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hitman GA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Morris AD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Doney AS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wellcome Trust Case Control Consortium (WTCCC).', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'McCarthy MI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hattersley AT', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Science', u'chapter': u'', u'articleids': [{u'value': u'17463249', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1142364', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1126/science.1142364', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC3772310', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'EMS54288', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'17463249', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17463249', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC3772310;manuscript-id: EMS54288;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'316'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "5215"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "8050136"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "10946398"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "5015480"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "10811661"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "564398"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "4402960"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "13266634"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "1801282"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "7901695"}], "chrom": "11", "pos": 17408630, "personal": false}, {"title": "A variant in CDKAL1 influences insulin response and risk of type 2 diabetes.", "authors": "Steinthorsdottir V", "abstract": "We conducted a genome-wide association study for type 2 diabetes\n (T2D) in Icelandic cases and controls, and we found that a previously\n described variant in the transcription factor 7-like 2 gene (TCF7L2) gene\n conferred the most significant risk. In addition to confirming two recently\n identified risk variants, we identified a variant in the CDKAL1 gene that was\n associated with T2D in individuals of European ancestry (allele-specific odds\n ratio (OR) = 1.20 (95% confidence interval, 1.13-1.27), P = 7.7 x 10(-9)) and\n individuals from Hong Kong of Han Chinese ancestry (OR = 1.25 (1.11-1.40), P\n = 0.00018). The genotype OR of this variant suggested that the effect was\n substantially stronger in homozygous carriers than in heterozygous carriers.\n The ORs for homozygotes were 1.50 (1.31-1.72) and 1.55 (1.23-1.95) in the\n European and Hong Kong groups, respectively. The insulin response for\n homozygotes was approximately 20% lower than for heterozygotes or\n noncarriers, suggesting that this variant confers risk of T2D through reduced\n insulin secretion.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 333, "pubmed_id": "17460697", "published_on": "2007-04-26", "metadata": "{u'essn': u'1546-1718', u'pages': u'770-5', u'locationlabel': u'', u'pubdate': u'2007 Jun', u'medium': u'', u'pubtype': [u'Journal Article', u'Randomized Controlled Trial'], u'availablefromurl': u'', u'issue': u'6', u'booktitle': u'', u'epubdate': u'2007 Apr 26', u'sorttitle': u'variant in cdkal1 influences insulin response and risk of type 2 diabetes', u'lastauthor': u'Stefansson K', u'title': u'A variant in CDKAL1 influences insulin response and risk of type 2 diabetes.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Steinthorsdottir V', u'sortpubdate': u'2007/06/01 00:00', u'uid': u'17460697', u'pmcrefcount': 333, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/03/14 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/04/17 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/04/27 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/08/19 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/04/27 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Steinthorsdottir V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorleifsson G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Reynisdottir I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Benediktsson R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonsdottir T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Walters GB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Styrkarsdottir U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gretarsdottir S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Emilsson V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ghosh S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Baker A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Snorradottir S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bjarnason H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ng MC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hansen T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bagger Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wilensky RL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Reilly MP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Adeyemo A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chen Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zhou J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudnason V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chen G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Huang H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lashley K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Doumatey A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'So WY', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ma RC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Andersen G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Borch-Johnsen K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jorgensen T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'van Vliet-Ostaptchouk JV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hofker MH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wijmenga C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Christiansen C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rader DJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rotimi C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gurney M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chan JC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pedersen O', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sigurdsson G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gulcher JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorsteinsdottir U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kong A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansson K', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'17460697', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng2043', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng2043', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17460697', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17460697', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'39'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "7756992"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "7903146"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "13266634"}], "chrom": "6", "pos": 20679709, "personal": false}, {"title": "A common variant on chromosome 9p21 affects the risk of myocardial infarction.", "authors": "Helgadottir A", "abstract": "The global endemic of cardiovascular diseases calls for improved\n risk assessment and treatment. Here, we describe an association between\n myocardial infarction (MI) and a common sequence variant on chromosome 9p21.\n This study included a total of 4587 cases and 12,767 controls. The identified\n variant, adjacent to the tumor suppressor genes CDKN2A and CDKN2B, was\n associated with the disease with high significance. Approximately 21% of\n individuals in the population are homozygous for this variant, and their\n estimated risk of suffering myocardial infarction is 1.64 times as great as\n that of noncarriers. The corresponding risk is 2.02 times as great for\n early-onset cases. The population attributable risk is 21% for MI in general\n and 31% for early-onset cases.", "journal": {"name": "Science", "impact_factor": 37.205}, "refcount": 460, "pubmed_id": "17478679", "published_on": "2007-05-03", "metadata": "{u'essn': u'1095-9203', u'pages': u'1491-3', u'locationlabel': u'', u'pubdate': u'2007 Jun 8', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5830', u'booktitle': u'', u'epubdate': u'2007 May 3', u'sorttitle': u'common variant on chromosome 9p21 affects the risk of myocardial infarction', u'lastauthor': u'Stefansson K', u'title': u'A common variant on chromosome 9p21 affects the risk of myocardial infarction.', u'fulljournalname': u'Science (New York, N.Y.)', u'publisherlocation': u'', u'sortfirstauthor': u'Helgadottir A', u'sortpubdate': u'2007/06/08 00:00', u'uid': u'17478679', u'pmcrefcount': 460, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/05/05 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/06/23 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/05/05 09:00'}], u'issn': u'0036-8075', u'nlmuniqueid': u'0404511', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 17823332, u'refsource': u'Science. 2007 Sep 7;317(5843):1322-4; author reply 1322-4', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Helgadottir A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorleifsson G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Manolescu A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gretarsdottir S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Blondal T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonasdottir A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonasdottir A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sigurdsson A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Baker A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Palsson A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Masson G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudbjartsson DF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Magnusson KP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Andersen K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Levey AI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Backman VM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Matthiasdottir S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonsdottir T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Palsson S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Einarsdottir H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gunnarsdottir S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gylfason A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vaccarino V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hooper WC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Reilly MP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Granger CB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Austin H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rader DJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Shah SH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Quyyumi AA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gulcher JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorgeirsson G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorsteinsdottir U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kong A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansson K', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Science', u'chapter': u'', u'articleids': [{u'value': u'17478679', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1142842', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1126/science.1142842', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17478679', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17478679', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'316'}", "phenotypes": [{"body_part": "heart", "fun": false, "description": "Myocardial infarction", "rsid": "10757278"}], "chrom": "9", "pos": 22124477, "personal": false}, {"title": "A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release.", "authors": "Matarin M", "abstract": "Despite evidence of a genetic role in stroke, the\n identification of common genetic risk factors for this devastating disorder\n remains problematic. We aimed to identify any common genetic variability\n exerting a moderate to large effect on risk of ischaemic stroke, and to\n generate publicly available genome-wide genotype data to facilitate others\n doing the same. METHODS: We applied a genome-wide high-density\n single-nucleotide-polymorphism (SNP) genotyping approach to a cohort of\n samples with and without ischaemic stroke (n=278 and 275, respectively), and\n did an association analysis adjusted for known confounders in a final cohort\n of 249 cases and 268 controls. More than 400,000 unique SNPs were assayed.\n FINDINGS: We produced more than 200 million genotypes in 553 unique\n participants. The raw genotypes of all the controls have been posted publicly\n in a previous study of Parkinson's disease. From this effort, results of\n genotype and allele association tests have been publicly posted for 88% of\n stroke patients who provided proper consent for public release. Preliminary\n analysis of these data did not reveal any single locus conferring a large\n effect on risk for ischaemic stroke. INTERPRETATION: The data generated here\n comprise the first phase of a genome-wide association analysis in patients\n with stroke. Release of phase I results generated in these publicly available\n samples from each consenting individual makes this dataset a valuable\n resource for data-mining and augmentation.", "journal": {"name": "Lancet Neurol", "impact_factor": 0.0}, "refcount": 58, "pubmed_id": "17434096", "published_on": "2007-05-06", "metadata": "{u'essn': u'1474-4465', u'pages': u'414-20', u'locationlabel': u'', u'pubdate': u'2007 May', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'genome wide genotyping study in patients with ischaemic stroke initial analysis and data release', u'lastauthor': u'Meschia JF', u'title': u'A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release.', u'fulljournalname': u'The Lancet. Neurology', u'publisherlocation': u'', u'sortfirstauthor': u'Matar\\xedn M', u'sortpubdate': u'2007/05/01 00:00', u'uid': u'17434096', u'pmcrefcount': 58, u'pubstatus': u'4', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/04/17 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/05/09 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/04/17 09:00'}], u'issn': u'1474-4422', u'nlmuniqueid': u'101139309', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 17434084, u'refsource': u'Lancet Neurol. 2007 May;6(5):383-4', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Matar\\xedn M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Brown WM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Scholz S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sim\\xf3n-S\\xe1nchez J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fung HC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hernandez D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gibbs JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'De Vrieze FW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Crews C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Britton A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Langefeld CD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Brott TG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Brown RD Jr', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Worrall BB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Frankel M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Silliman S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Case LD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Singleton A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hardy JA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rich SS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Meschia JF', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Lancet Neurol', u'chapter': u'', u'articleids': [{u'value': u'17434096', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'S1474-4422(07)70081-9', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1016/S1474-4422(07)70081-9', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2613843', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS82760', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'17434096', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17434096', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2613843;manuscript-id: NIHMS82760;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'6'}", "phenotypes": [{"body_part": "brain", "fun": false, "description": "Stroke", "rsid": "783396"}, {"body_part": "brain", "fun": false, "description": "Stroke", "rsid": "10486776"}, {"body_part": "brain", "fun": false, "description": "Stroke", "rsid": "7506045"}, {"body_part": "brain", "fun": false, "description": "Stroke", "rsid": "9536591"}], "chrom": "6", "pos": 106987370, "personal": false}, {"title": "A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder.", "authors": "Baum AE", "abstract": "The genetic basis of bipolar disorder has long been thought to\n be complex, with the potential involvement of multiple genes, but methods to\n analyze populations with respect to this complexity have only recently become\n available. We have carried out a genome-wide association study of bipolar\n disorder by genotyping over 550,000 single-nucleotide polymorphisms (SNPs) in\n two independent case-control samples of European origin. The initial\n association screen was performed using pooled DNA, and selected SNPs were\n confirmed by individual genotyping. While DNA pooling reduces power to detect\n genetic associations, there is a substantial cost saving and gain in\n efficiency. A total of 88 SNPs, representing 80 different genes, met the\n prior criteria for replication in both samples. Effect sizes were modest: no\n single SNP of large effect was detected. Of 37 SNPs selected for individual\n genotyping, the strongest association signal was detected at a marker within\n the first intron of diacylglycerol kinase eta (DGKH; P=1.5 x 10(-8),\n experiment-wide P<0.01, OR=1.59). This gene encodes DGKH, a key protein in\n the lithium-sensitive phosphatidyl inositol pathway. This first genome-wide\n association study of bipolar disorder shows that several genes, each of\n modest effect, reproducibly influence disease risk. Bipolar disorder may be a\n polygenic disease.", "journal": {"name": "Mol Psychiatry", "impact_factor": 0.0}, "refcount": 213, "pubmed_id": "17486107", "published_on": "2007-05-08", "metadata": "{u'essn': u'1476-5578', u'pages': u'197-207', u'locationlabel': u'', u'pubdate': u'2008 Feb', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'2', u'booktitle': u'', u'epubdate': u'2007 May 8', u'sorttitle': u'genome wide association study implicates diacylglycerol kinase eta dgkh and several other genes in the etiology of bipolar disorder', u'lastauthor': u'McMahon FJ', u'title': u'A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder.', u'fulljournalname': u'Molecular psychiatry', u'publisherlocation': u'', u'sortfirstauthor': u'Baum AE', u'sortpubdate': u'2008/02/01 00:00', u'uid': u'17486107', u'pmcrefcount': 213, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/05/09 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/04/12 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/05/09 09:00'}], u'issn': u'1359-4184', u'nlmuniqueid': u'9607835', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Baum AE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Akula N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cabanero M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cardona I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Corona W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Klemens B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schulze TG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cichon S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rietschel M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'N\\xf6then MM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Georgi A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schumacher J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schwarz M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Abou Jamra R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'H\\xf6fels S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Propping P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Satagopan J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Detera-Wadleigh SD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hardy J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McMahon FJ', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Mol Psychiatry', u'chapter': u'', u'articleids': [{u'value': u'17486107', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'4002012', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/sj.mp.4002012', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2527618', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS47540', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'17486107', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17486107', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2527618;manuscript-id: NIHMS47540;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'13'}", "phenotypes": [{"body_part": "psychological", "fun": false, "description": "Bipolar disorder", "rsid": "1012053"}], "chrom": "13", "pos": 42653437, "personal": false}, {"title": "A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer.", "authors": "Hunter DJ", "abstract": "We conducted a genome-wide association study (GWAS) of breast\n cancer by genotyping 528,173 SNPs in 1,145 postmenopausal women of European\n ancestry with invasive breast cancer and 1,142 controls. We identified four\n SNPs in intron 2 of FGFR2 (which encodes a receptor tyrosine kinase and is\n amplified or overexpressed in some breast cancers) that were highly\n associated with breast cancer and confirmed this association in 1,776\n affected individuals and 2,072 controls from three additional studies. Across\n the four studies, the association with all four SNPs was highly statistically\n significant (P(trend) for the most strongly associated SNP (rs1219648) = 1.1\n x 10(-10); population attributable risk = 16%). Four SNPs at other loci most\n strongly associated with breast cancer in the initial GWAS were not\n associated in the replication studies. Our summary results from the GWAS are\n available online in a form that should speed the identification of additional\n risk loci.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 647, "pubmed_id": "17529973", "published_on": "2007-05-27", "metadata": "{u'essn': u'1546-1718', u'pages': u'870-4', u'locationlabel': u'', u'pubdate': u'2007 Jul', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'7', u'booktitle': u'', u'epubdate': u'2007 May 27', u'sorttitle': u'genome wide association study identifies alleles in fgfr2 associated with risk of sporadic postmenopausal breast cancer', u'lastauthor': u'Chanock SJ', u'title': u'A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Hunter DJ', u'sortpubdate': u'2007/07/01 00:00', u'uid': u'17529973', u'pmcrefcount': 647, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/04/26 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/05/18 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/05/29 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/09/05 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/05/29 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Hunter DJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kraft P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jacobs KB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cox DG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yeager M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hankinson SE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wacholder S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wang Z', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Welch R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hutchinson A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wang J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yu K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chatterjee N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Orr N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Willett WC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Colditz GA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ziegler RG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Berg CD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Buys SS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McCarty CA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Feigelson HS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Calle EE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thun MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hayes RB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tucker M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gerhard DS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fraumeni JF Jr', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hoover RN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thomas G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chanock SJ', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'17529973', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng2075', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng2075', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC3493132', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS415304', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'17529973', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17529973', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC3493132;manuscript-id: NIHMS415304;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'39'}", "phenotypes": [{"body_part": "breast", "fun": false, "description": "Breast cancer", "rsid": "1219648"}], "chrom": "10", "pos": 123346190, "personal": false}, {"title": "Genome-wide association study identifies novel breast cancer susceptibility loci.", "authors": "Easton DF", "abstract": "Breast cancer exhibits familial aggregation, consistent with\n variation in genetic susceptibility to the disease. Known susceptibility\n genes account for less than 25% of the familial risk of breast cancer, and\n the residual genetic variance is likely to be due to variants conferring more\n moderate risks. To identify further susceptibility alleles, we conducted a\n two-stage genome-wide association study in 4,398 breast cancer cases and\n 4,316 controls, followed by a third stage in which 30 single nucleotide\n polymorphisms (SNPs) were tested for confirmation in 21,860 cases and 22,578\n controls from 22 studies. We used 227,876 SNPs that were estimated to\n correlate with 77% of known common SNPs in Europeans at r2 > 0.5. SNPs in\n five novel independent loci exhibited strong and consistent evidence of\n association with breast cancer (P < 10(-7)). Four of these contain plausible\n causative genes (FGFR2, TNRC9, MAP3K1 and LSP1). At the second stage, 1,792\n SNPs were significant at the P < 0.05 level compared with an estimated 1,343\n that would be expected by chance, indicating that many additional common\n susceptibility alleles may be identifiable by this approach.", "journal": {"name": "Nature", "impact_factor": 0.0}, "refcount": 766, "pubmed_id": "17529967", "published_on": "2007-05-27", "metadata": "{u'essn': u'1476-4687', u'pages': u'1087-93', u'locationlabel': u'', u'pubdate': u'2007 Jun 28', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'7148', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'genome wide association study identifies novel breast cancer susceptibility loci', u'lastauthor': u'Ponder BA', u'title': u'Genome-wide association study identifies novel breast cancer susceptibility loci.', u'fulljournalname': u'Nature', u'publisherlocation': u'', u'sortfirstauthor': u'Easton DF', u'sortpubdate': u'2007/06/28 00:00', u'uid': u'17529967', 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{u'name': u'Morrison J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Field H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Luben R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wareham N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ahmed S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Healey CS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bowman R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'SEARCH collaborators.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Meyer KB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Haiman CA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kolonel LK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Henderson BE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Le Marchand L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Brennan P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sangrajrang S', 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{u'name': u'Beesley J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chen X', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'kConFab.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'AOCS Management Group.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Mannermaa A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kosma VM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kataja V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hartikainen J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Day NE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cox DR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ponder BA', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nature', u'chapter': u'', u'articleids': [{u'value': u'17529967', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'nature05887', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/nature05887', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2714974', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'UKMS5232', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'17529967', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17529967', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2714974;manuscript-id: UKMS5232;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'447'}", "phenotypes": [{"body_part": "breast", "fun": false, "description": "Breast cancer", "rsid": "2981582"}, {"body_part": "breast", "fun": false, "description": "Breast cancer", "rsid": "3803662"}, {"body_part": "breast", "fun": false, "description": "Breast cancer", "rsid": "3817198"}, {"body_part": "breast", "fun": false, "description": "Breast cancer", "rsid": "889312"}, {"body_part": "breast", "fun": false, "description": "Breast cancer", "rsid": "981782"}, {"body_part": "breast", "fun": false, "description": "Breast cancer", "rsid": "13281615"}], "chrom": "10", "pos": 123352317, "personal": true}, {"title": "Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer.", "authors": "Stacey SN", "abstract": "Familial clustering studies indicate that breast cancer risk has\n a substantial genetic component. To identify new breast cancer risk variants,\n we genotyped approximately 300,000 SNPs in 1,600 Icelandic individuals with\n breast cancer and 11,563 controls using the Illumina Hap300 platform. We then\n tested selected SNPs in five replication sample sets. Overall, we studied\n 4,554 affected individuals and 17,577 controls. Two SNPs consistently\n associated with breast cancer: approximately 25% of individuals of European\n descent are homozygous for allele A of rs13387042 on chromosome 2q35 and have\n an estimated 1.44-fold greater risk than noncarriers, and for allele T of\n rs3803662 on 16q12, about 7% are homozygous and have a 1.64-fold greater\n risk. Risk from both alleles was confined to estrogen receptor-positive\n tumors. At present, no genes have been identified in the linkage\n disequilibrium block containing rs13387042. rs3803662 is near the 5' end of\n TNRC9 , a high mobility group chromatin-associated protein whose expression\n is implicated in breast cancer metastasis to bone.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 313, "pubmed_id": "17529974", "published_on": "2007-05-27", "metadata": "{u'essn': u'1546-1718', u'pages': u'865-9', u'locationlabel': u'', u'pubdate': u'2007 Jul', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'7', u'booktitle': u'', u'epubdate': u'2007 May 27', u'sorttitle': u'common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor positive breast cancer', u'lastauthor': u'Stefansson K', u'title': u'Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Stacey SN', u'sortpubdate': u'2007/07/01 00:00', u'uid': u'17529974', u'pmcrefcount': 313, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/04/04 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/05/10 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/05/29 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/09/05 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/05/29 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Stacey SN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Manolescu A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sulem P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rafnar T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudmundsson J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudjonsson SA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Masson G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jakobsdottir M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorlacius S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Helgason A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Aben KK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Strobbe LJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Albers-Akkers MT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Swinkels DW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Henderson BE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kolonel LN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Le Marchand L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Millastre E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Andres R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Godino J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Garcia-Prats MD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Polo E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tres A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mouy M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Saemundsdottir J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Backman VM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudmundsson L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kristjansson K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bergthorsson JT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kostic J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Frigge ML', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Geller F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudbjartsson D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sigurdsson H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonsdottir T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hrafnkelsson J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Johannsson J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sveinsson T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Myrdal G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Grimsson HN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonsson T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'von Holst S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Werelius B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Margolin S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lindblom A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mayordomo JI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Haiman CA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kiemeney LA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Johannsson OT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gulcher JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorsteinsdottir U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kong A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansson K', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'17529974', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng2064', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng2064', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17529974', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17529974', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'39'}", "phenotypes": [{"body_part": "breast", "fun": false, "description": "Breast cancer", "rsid": "13387042"}, {"body_part": "breast", "fun": false, "description": "Breast cancer", "rsid": "3803662"}], "chrom": "2", "pos": 217905832, "personal": true}, {"title": "Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.", "authors": "Parkes M", "abstract": "A genome-wide association scan in individuals with Crohn's\n disease by the Wellcome Trust Case Control Consortium detected strong\n association at four novel loci. We tested 37 SNPs from these and other loci\n for association in an independent case-control sample. We obtained\n replication for the autophagy-inducing IRGM gene on chromosome 5q33.1\n (replication P = 6.6 x 10(-4), combined P = 2.1 x 10(-10)) and for nine other\n loci, including NKX2-3, PTPN2 and gene deserts on chromosomes 1q and 5p13.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 348, "pubmed_id": "17554261", "published_on": "2007-06-06", "metadata": "{u'essn': u'1546-1718', u'pages': u'830-2', u'locationlabel': u'', u'pubdate': u'2007 Jul', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'7', u'booktitle': u'', u'epubdate': u'2007 Jun 6', u'sorttitle': u'sequence variants in the autophagy gene irgm and multiple other replicating loci contribute to crohn s disease susceptibility', u'lastauthor': u'Mathew CG', u'title': u\"Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.\", u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Parkes M', u'sortpubdate': u'2007/07/01 00:00', u'uid': u'17554261', u'pmcrefcount': 348, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/04/30 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/05/11 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/06/08 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/09/05 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/06/08 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 17941076, u'refsource': u'Inflamm Bowel Dis. 2008 Jan;14(1):136-7', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': 17597768, u'refsource': u'Nat Genet. 2007 Jul;39(7):813-5', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Parkes M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barrett JC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Prescott NJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tremelling M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Anderson CA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fisher SA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Roberts RG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nimmo ER', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cummings FR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Soars D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Drummond H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lees CW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Khawaja SA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bagnall R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Burke DA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Todhunter CE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ahmad T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Onnie CM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McArdle W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Strachan D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bethel G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bryan C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lewis CM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Deloukas P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Forbes A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sanderson J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jewell DP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Satsangi J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mansfield JC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wellcome Trust Case Control Consortium.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Cardon L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mathew CG', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'17554261', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng2061', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng2061', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2628541', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'UKMS679', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'17554261', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17554261', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2628541;manuscript-id: UKMS679;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'39'}", "phenotypes": [{"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "10801047"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "9858542"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "13361189"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "10883365"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "2542151"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "12035082"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "6887695"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "9292777"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "2836754"}], "chrom": "1", "pos": 191559356, "personal": false}, {"title": "Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.", "authors": "Todd JA", "abstract": "The Wellcome Trust Case Control Consortium (WTCCC) primary\n genome-wide association (GWA) scan on seven diseases, including the\n multifactorial autoimmune disease type 1 diabetes (T1D), shows associations\n at P < 5 x 10(-7) between T1D and six chromosome regions: 12q24, 12q13,\n 16p13, 18p11, 12p13 and 4q27. Here, we attempted to validate these and six\n other top findings in 4,000 individuals with T1D, 5,000 controls and 2,997\n family trios independent of the WTCCC study. We confirmed unequivocally the\n associations of 12q24, 12q13, 16p13 and 18p11 (P(follow-up) <or= 1.35 x\n 10(-9); P(overall) <or= 1.15 x 10(-14)), leaving eight regions with small\n effects or false-positive associations. We also obtained evidence for\n chromosome 18q22 (P(overall) = 1.38 x 10(-8)) from a GWA study of\n nonsynonymous SNPs. Several regions, including 18q22 and 18p11, showed\n association with autoimmune thyroid disease. This study increases the number\n of T1D loci with compelling evidence from six to at least ten.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 477, "pubmed_id": "17554260", "published_on": "2007-06-06", "metadata": "{u'essn': u'1546-1718', u'pages': u'857-64', u'locationlabel': u'', u'pubdate': u'2007 Jul', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'7', u'booktitle': u'', u'epubdate': u'2007 Jun 6', u'sorttitle': u'robust associations of four new chromosome regions from genome wide analyses of type 1 diabetes', u'lastauthor': u'Clayton DG', u'title': u'Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Todd JA', u'sortpubdate': u'2007/07/01 00:00', u'uid': u'17554260', u'pmcrefcount': 477, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/04/26 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/05/14 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/06/08 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/09/05 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/06/08 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 17597768, u'refsource': u'Nat Genet. 2007 Jul;39(7):813-5', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Todd JA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Walker NM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cooper JD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Smyth DJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Downes K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Plagnol V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bailey R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nejentsev S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Field SF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Payne F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lowe CE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Szeszko JS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hafler JP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zeitels L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yang JH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vella A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nutland S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stevens HE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schuilenburg H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Coleman G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Maisuria M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Meadows W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Smink LJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Healy B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Burren OS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lam AA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ovington NR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Allen J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Adlem E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Leung HT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wallace C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Howson JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Guja C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ionescu-T\\xeergovi\\u015fte C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Genetics of Type 1 Diabetes in Finland.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Simmonds MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heward JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gough SC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wellcome Trust Case Control Consortium.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Dunger DB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wicker LS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Clayton DG', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'17554260', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng2068', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng2068', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2492393', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'UKMS663', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'17554260', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17554260', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2492393;manuscript-id: UKMS663;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'39'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "17696736"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "12708716"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "2542151"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "763361"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "9653442"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "6679677"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "3741208"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "2476601"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "1990760"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "1445898"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "2292239"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "6897932"}], "chrom": "12", "pos": 112486818, "personal": false}, {"title": "Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.", "authors": "WTCCC", "abstract": "There is increasing evidence that genome-wide association (GWA)\n studies represent a powerful approach to the identification of genes involved\n in common human diseases. We describe a joint GWA study (using the Affymetrix\n GeneChip 500K Mapping Array Set) undertaken in the British population, which\n has examined approximately 2,000 individuals for each of 7 major diseases and\n a shared set of approximately 3,000 controls. Case-control comparisons\n identified 24 independent association signals at P < 5 x 10(-7): 1 in bipolar\n disorder, 1 in coronary artery disease, 9 in Crohn's disease, 3 in rheumatoid\n arthritis, 7 in type 1 diabetes and 3 in type 2 diabetes. On the basis of\n prior findings and replication studies thus-far completed, almost all of\n these signals reflect genuine susceptibility effects. We observed association\n at many previously identified loci, and found compelling evidence that some\n loci confer risk for more than one of the diseases studied. Across all\n diseases, we identified a large number of further signals (including 58 loci\n with single-point P values between 10(-5) and 5 x 10(-7)) likely to yield\n additional susceptibility loci. The importance of appropriately large samples\n was confirmed by the modest effect sizes observed at most loci identified.\n This study thus represents a thorough validation of the GWA approach. It has\n also demonstrated that careful use of a shared control group represents a\n safe and effective approach to GWA analyses of multiple disease phenotypes;\n has generated a genome-wide genotype database for future studies of common\n diseases in the British population; and shown that, provided individuals with\n non-European ancestry are excluded, the extent of population stratification\n in the British population is generally modest. Our findings offer new avenues\n for exploring the pathophysiology of these important disorders. We anticipate\n that our data, results and software, which will be widely available to other\n investigators, will provide a powerful resource for human genetics research.", "journal": {"name": "Nature", "impact_factor": 0.0}, "refcount": 3200, "pubmed_id": "17554300", "published_on": "2007-06-07", "metadata": "{u'essn': u'1476-4687', u'pages': u'661-78', u'locationlabel': u'', u'pubdate': u'2007 Jun 7', u'medium': u'', u'pubtype': [u'Journal Article', u'Multicenter Study'], u'availablefromurl': u'', u'issue': u'7145', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'genome wide association study of 14 000 cases of seven common diseases and 3 000 shared controls', u'lastauthor': u'Wellcome Trust Case Control Consortium.', u'title': u'Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.', u'fulljournalname': u'Nature', u'publisherlocation': u'', u'sortfirstauthor': u'Wellcome Trust Case Control Consortium.', u'sortpubdate': u'2007/06/07 00:00', u'uid': u'17554300', u'pmcrefcount': 3200, u'pubstatus': u'4', u'history': [{u'pubstatus': u'received', u'date': u'2007/03/26 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/05/11 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/06/08 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/06/30 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/06/08 09:00'}], u'issn': u'0028-0836', u'nlmuniqueid': u'0410462', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 17554292, u'refsource': u'Nature. 2007 Jun 7;447(7145):645-6', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': 18489844, u'refsource': u'Curr Atheroscler Rep. 2008 Jun;10(3):183-5', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': 28617469, u'refsource': u'Nature. 2017 Jun 14;546(7658):360-361', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Wellcome Trust Case Control Consortium.', u'clusterid': u'', u'authtype': u'CollectiveName'}], u'attributes': [u'Has Abstract'], u'source': u'Nature', u'chapter': u'', u'articleids': [{u'value': u'17554300', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'nature05911', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/nature05911', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2719288', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'UKMS4894', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'17554300', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17554300', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2719288;manuscript-id: UKMS4894;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'447'}", "phenotypes": [{"body_part": "psychological", "fun": false, "description": "Bipolar disorder", "rsid": "420259"}, {"body_part": "psychological", "fun": false, "description": "Bipolar disorder", "rsid": "6458307"}, {"body_part": "psychological", "fun": false, "description": "Bipolar disorder", "rsid": "2953145"}, {"body_part": "psychological", "fun": false, "description": "Bipolar disorder", "rsid": "3761218"}, {"body_part": "heart", "fun": false, "description": "Coronary heart disease", "rsid": "1333049"}, {"body_part": "heart", "fun": false, "description": "Coronary heart disease", "rsid": "17672135"}, {"body_part": "heart", "fun": false, "description": "Coronary heart disease", "rsid": "688034"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "9858542"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "10883365"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "2542151"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "9469220"}, {"body_part": "", "fun": false, "description": "Hypertension", "rsid": "2820037"}, {"body_part": "", "fun": false, "description": "Hypertension", "rsid": "2398162"}, {"body_part": "bone", "fun": false, "description": "Rheumatoid arthritis", "rsid": "11761231"}, {"body_part": "bone", "fun": false, "description": "Rheumatoid arthritis", "rsid": "743777"}, {"body_part": "bone", "fun": false, "description": "Rheumatoid arthritis", "rsid": "3816587"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "17696736"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "12708716"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "11052552"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "17388568"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "9465871"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "9939609"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "1495377"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "12304921"}, {"body_part": "psychological", "fun": false, "description": "Bipolar disorder", "rsid": "10134944"}, {"body_part": "psychological", "fun": false, "description": "Bipolar disorder", "rsid": "11622475"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "7807268"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "6601764"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "11805303"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "10210302"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "17234657"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "10761659"}, {"body_part": "bone", "fun": false, "description": "Rheumatoid arthritis", "rsid": "615672"}, {"body_part": "bone", "fun": false, "description": "Rheumatoid arthritis", "rsid": "6679677"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "6534347"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "3764021"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "17166496"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "6679677"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "9272346"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "7659604"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "4506565"}, {"body_part": "psychological", "fun": false, "description": "Bipolar disorder", "rsid": "683395"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "1000113"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "17221417"}, {"body_part": "bone", "fun": false, "description": "Rheumatoid arthritis", "rsid": "2837960"}, {"body_part": "bone", "fun": false, "description": "Rheumatoid arthritis", "rsid": "6457617"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "358806"}, {"body_part": "heart", "fun": false, "description": "Coronary heart disease", "rsid": "8055236"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "6596075"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "11171739"}], "chrom": "16", "pos": 23634026, "personal": false}, {"title": "GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers.", "authors": "Reiman EM", "abstract": "The apolipoprotein E (APOE) epsilon4 allele is the best\n established genetic risk factor for late-onset Alzheimer's disease (LOAD). We\n conducted genome-wide surveys of 502,627 single-nucleotide polymorphisms\n (SNPs) to characterize and confirm other LOAD susceptibility genes. In\n epsilon4 carriers from neuropathologically verified discovery,\n neuropathologically verified replication, and clinically characterized\n replication cohorts of 1411 cases and controls, LOAD was associated with six\n SNPs from the GRB-associated binding protein 2 (GAB2) gene and a common\n haplotype encompassing the entire GAB2 gene. SNP rs2373115 (p = 9 x 10(-11))\n was associated with an odds ratio of 4.06 (confidence interval 2.81-14.69),\n which interacts with APOE epsilon4 to further modify risk. GAB2 was\n overexpressed in pathologically vulnerable neurons; the Gab2 protein was\n detected in neurons, tangle-bearing neurons, and dystrophic neuritis; and\n interference with GAB2 gene expression increased tau phosphorylation. Our\n findings suggest that GAB2 modifies LOAD risk in APOE epsilon4 carriers and\n influences Alzheimer's neuropathology.", "journal": {"name": "Neuron", "impact_factor": 0.0}, "refcount": 176, "pubmed_id": "17553421", "published_on": "2007-06-07", "metadata": "{u'essn': u'1097-4199', u'pages': u'713-20', u'locationlabel': u'', u'pubdate': u'2007 Jun 7', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'gab2 alleles modify alzheimer s risk in apoe epsilon4 carriers', u'lastauthor': u'Stephan DA', u'title': u\"GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers.\", u'fulljournalname': u'Neuron', u'publisherlocation': u'', u'sortfirstauthor': u'Reiman EM', u'sortpubdate': u'2007/06/07 00:00', u'uid': u'17553421', u'pmcrefcount': 176, u'pubstatus': u'4', u'history': [{u'pubstatus': u'received', u'date': u'2007/04/26 00:00'}, {u'pubstatus': u'revised', u'date': u'2007/05/15 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/05/20 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/06/08 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/08/01 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/06/08 09:00'}], u'issn': u'0896-6273', u'nlmuniqueid': u'8809320', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Reiman EM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Webster JA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Myers AJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hardy J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dunckley T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zismann VL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Joshipura KD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pearson JV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hu-Lince D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Huentelman MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Craig DW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Coon KD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Liang WS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Herbert RH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Beach T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rohrer KC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zhao AS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Leung D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bryden L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Marlowe L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kaleem M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mastroeni D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Grover A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heward CB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ravid R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rogers J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hutton ML', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Melquist S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Petersen RC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Alexander GE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Caselli RJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kukull W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Papassotiropoulos A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stephan DA', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Neuron', u'chapter': u'', u'articleids': [{u'value': u'17553421', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'S0896-6273(07)00379-0', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1016/j.neuron.2007.05.022', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2587162', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS40851', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'17553421', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17553421', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2587162;manuscript-id: NIHMS40851;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'54'}", "phenotypes": [{"body_part": "brain", "fun": false, "description": "Alzheimer's disease (late onset)", "rsid": "2373115"}], "chrom": "11", "pos": 78091150, "personal": false}, {"title": "A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.", "authors": "van Heel DA", "abstract": "We tested 310,605 SNPs for association in 778 individuals with\n celiac disease and 1,422 controls. Outside the HLA region, the most\n significant finding (rs13119723; P = 2.0 x 10(-7)) was in the\n KIAA1109-TENR-IL2-IL21 linkage disequilibrium block. We independently\n confirmed association in two further collections (strongest association at\n rs6822844, 24 kb 5' of IL21; meta-analysis P = 1.3 x 10(-14), odds ratio =\n 0.63), suggesting that genetic variation in this region predisposes to celiac\n disease.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 185, "pubmed_id": "17558408", "published_on": "2007-06-10", "metadata": "{u'essn': u'1546-1718', u'pages': u'827-9', u'locationlabel': u'', u'pubdate': u'2007 Jul', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'7', u'booktitle': u'', u'epubdate': u'2007 Jun 10', u'sorttitle': u'genome wide association study for celiac disease identifies risk variants in the region harboring il2 and il21', u'lastauthor': u'Wijmenga C', u'title': u'A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'van Heel DA', u'sortpubdate': u'2007/07/01 00:00', u'uid': u'17558408', u'pmcrefcount': 185, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/02/21 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/05/03 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/06/15 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/09/05 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/06/15 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'van Heel DA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Franke L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hunt KA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gwilliam R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zhernakova A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Inouye M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wapenaar MC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barnardo MC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bethel G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Holmes GK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Feighery C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jewell D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kelleher D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kumar P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Travis S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Walters JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sanders DS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Howdle P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Swift J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Playford RJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McLaren WM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mearin ML', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mulder CJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McManus R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McGinnis R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cardon LR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Deloukas P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wijmenga C', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'17558408', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng2058', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng2058', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2274985', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'UKMS1572', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'17558408', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17558408', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2274985;manuscript-id: UKMS1572;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'39'}", "phenotypes": [{"body_part": "gut", "fun": false, "description": "Celiac disease", "rsid": "6822844"}, {"body_part": "gut", "fun": false, "description": "Celiac disease", "rsid": "2187668"}], "chrom": "4", "pos": 123509421, "personal": false}, {"title": "Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium.", "authors": "Salonen JT", "abstract": "Type 2 diabetes (T2D) is a common, polygenic chronic disease\n with high heritability. The purpose of this whole-genome association study\n was to discover novel T2D-associated genes. We genotyped 500 familial cases\n and 497 controls with >300,000 HapMap-derived tagging\n single-nucleotide-polymorphism (SNP) markers. When a stringent statistical\n correction for multiple testing was used, the only significant SNP was at\n TCF7L2, which has already been discovered and confirmed as a\n T2D-susceptibility gene. For a replication study, we selected 10 SNPs in six\n chromosomal regions with the strongest association (singly or as part of a\n haplotype) for retesting in an independent case-control set including 2,573\n T2D cases and 2,776 controls. The most significant replicated result was\n found at the AHI1-LOC441171 gene region.", "journal": {"name": "Am J Hum Genet", "impact_factor": 0.0}, "refcount": 65, "pubmed_id": "17668382", "published_on": "2007-06-26", "metadata": "{u'essn': u'1537-6605', u'pages': u'338-45', u'locationlabel': u'', u'pubdate': u'2007 Aug', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'2', u'booktitle': u'', u'epubdate': u'2007 Jun 26', u'sorttitle': u'type 2 diabetes whole genome association study in four populations the diagen consortium', u'lastauthor': u'Darvasi A', u'title': u'Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium.', u'fulljournalname': u'American journal of human genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Salonen JT', u'sortpubdate': u'2007/08/01 00:00', u'uid': u'17668382', u'pmcrefcount': 65, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/04/05 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/05/07 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/08/02 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/09/22 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/08/02 09:00'}], u'issn': u'0002-9297', u'nlmuniqueid': u'0370475', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Salonen JT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Uimari P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Aalto JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pirskanen M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kaikkonen J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Todorova B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hypp\\xf6nen J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Korhonen VP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Asikainen J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Devine C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tuomainen TP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Luedemann J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nauck M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kerner W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stephens RH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'New JP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ollier WE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gibson JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Payton A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Horan MA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pendleton N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mahoney W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Meyre D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Delplanque J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Froguel P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Luzzatto O', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yakir B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Darvasi A', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Am J Hum Genet', u'chapter': u'', u'articleids': [{u'value': u'17668382', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'S0002-9297(07)61198-7', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1086/520599', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1950819', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17668382', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17668382', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1950819;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'81'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "6712932"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "7903146"}], "chrom": "10", "pos": 114758349, "personal": false}, {"title": "Variants conferring risk of atrial fibrillation on chromosome 4q25.", "authors": "Gudbjartsson DF", "abstract": "Atrial fibrillation (AF) is the most common sustained cardiac\n arrhythmia in humans and is characterized by chaotic electrical activity of\n the atria. It affects one in ten individuals over the age of 80 years, causes\n significant morbidity and is an independent predictor of mortality. Recent\n studies have provided evidence of a genetic contribution to AF. Mutations in\n potassium-channel genes have been associated with familial AF but account for\n only a small fraction of all cases of AF. We have performed a genome-wide\n association scan, followed by replication studies in three populations of\n European descent and a Chinese population from Hong Kong and find a strong\n association between two sequence variants on chromosome 4q25 and AF. Here we\n show that about 35% of individuals of European descent have at least one of\n the variants and that the risk of AF increases by 1.72 and 1.39 per copy. The\n association with the stronger variant is replicated in the Chinese\n population, where it is carried by 75% of individuals and the risk of AF is\n increased by 1.42 per copy. A stronger association was observed in\n individuals with typical atrial flutter. Both variants are adjacent to PITX2,\n which is known to have a critical function in left-right asymmetry of the\n heart.", "journal": {"name": "Nature", "impact_factor": 0.0}, "refcount": 250, "pubmed_id": "17603472", "published_on": "2007-07-01", "metadata": "{u'essn': u'1476-4687', u'pages': u'353-7', u'locationlabel': u'', u'pubdate': u'2007 Jul 19', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'7151', u'booktitle': u'', u'epubdate': u'2007 Jul 1', u'sorttitle': u'variants conferring risk of atrial fibrillation on chromosome 4q25', u'lastauthor': u'Stefansson K', u'title': u'Variants conferring risk of atrial fibrillation on chromosome 4q25.', u'fulljournalname': u'Nature', u'publisherlocation': u'', u'sortfirstauthor': u'Gudbjartsson DF', u'sortpubdate': u'2007/07/19 00:00', u'uid': u'17603472', u'pmcrefcount': 250, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/04/06 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/06/11 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/07/03 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/08/19 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/07/03 09:00'}], u'issn': u'0028-0836', u'nlmuniqueid': u'0410462', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Gudbjartsson DF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Arnar DO', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Helgadottir A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gretarsdottir S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Holm H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sigurdsson A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonasdottir A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Baker A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorleifsson G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kristjansson K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Palsson A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Blondal T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sulem P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Backman VM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hardarson GA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Palsdottir E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Helgason A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sigurjonsdottir R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sverrisson JT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kostulas K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ng MC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Baum L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'So WY', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wong KS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chan JC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Furie KL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Greenberg SM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sale M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kelly P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'MacRae CA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Smith EE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rosand J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hillert J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ma RC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ellinor PT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorgeirsson G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gulcher JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kong A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorsteinsdottir U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansson K', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nature', u'chapter': u'', u'articleids': [{u'value': u'17603472', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'nature06007', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/nature06007', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17603472', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17603472', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'448'}", "phenotypes": [{"body_part": "heart", "fun": false, "description": "Atrial fibrillation/atrial flutter", "rsid": "10033464"}, {"body_part": "heart", "fun": false, "description": "Atrial fibrillation/atrial flutter", "rsid": "2200733"}], "chrom": "4", "pos": 111710169, "personal": false}, {"title": "Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.", "authors": "Gudmundsson J", "abstract": "We performed a genome-wide association scan to search for\n sequence variants conferring risk of prostate cancer using 1,501 Icelandic\n men with prostate cancer and 11,290 controls. Follow-up studies involving\n three additional case-control groups replicated an association of two\n variants on chromosome 17 with the disease. These two variants, 33 Mb apart,\n fall within a region previously implicated by family-based linkage studies on\n prostate cancer. The risks conferred by these variants are moderate\n individually (allele odds ratio of about 1.20), but because they are common,\n their joint population attributable risk is substantial. One of the variants\n is in TCF2 (HNF1beta), a gene known to be mutated in individuals with\n maturity-onset diabetes of the young type 5. Results from eight case-control\n groups, including one West African and one Chinese, demonstrate that this\n variant confers protection against type 2 diabetes.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 313, "pubmed_id": "17603485", "published_on": "2007-07-01", "metadata": "{u'essn': u'1546-1718', u'pages': u'977-83', u'locationlabel': u'', u'pubdate': u'2007 Aug', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'8', u'booktitle': u'', u'epubdate': u'2007 Jul 1', u'sorttitle': u'two variants on chromosome 17 confer prostate cancer risk and the one in tcf2 protects against type 2 diabetes', u'lastauthor': u'Stefansson K', u'title': u'Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Gudmundsson J', u'sortpubdate': u'2007/08/01 00:00', u'uid': u'17603485', u'pmcrefcount': 313, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/03/21 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/05/08 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/07/03 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/09/20 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/07/03 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Gudmundsson J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sulem P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Steinthorsdottir V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bergthorsson JT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorleifsson G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Manolescu A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rafnar T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudbjartsson D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Agnarsson BA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Baker A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sigurdsson A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Benediktsdottir KR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jakobsdottir M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Blondal T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stacey SN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Helgason A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gunnarsdottir S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Olafsdottir A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kristinsson KT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Birgisdottir B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ghosh S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorlacius S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Magnusdottir D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansdottir G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kristjansson K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bagger Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wilensky RL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Reilly MP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Morris AD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kimber CH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Adeyemo A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chen Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zhou J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'So WY', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tong PC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ng MC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hansen T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Andersen G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Borch-Johnsen K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jorgensen T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tres A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fuertes F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ruiz-Echarri M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Asin L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Saez B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'van Boven E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Klaver S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Swinkels DW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Aben KK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Graif T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cashy J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Suarez BK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'van Vierssen Trip O', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Frigge ML', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ober C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hofker MH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wijmenga C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Christiansen C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rader DJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Palmer CN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rotimi C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chan JC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pedersen O', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sigurdsson G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Benediktsson R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonsson E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Einarsson GV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mayordomo JI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Catalona WJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kiemeney LA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barkardottir RB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gulcher JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorsteinsdottir U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kong A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansson K', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'17603485', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng2062', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng2062', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17603485', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17603485', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'39'}", "phenotypes": [{"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "4430796"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "1859962"}], "chrom": "17", "pos": 36098040, "personal": true}, {"title": "Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.", "authors": "Zanke BW", "abstract": "Using a multistage genetic association approach comprising 7,480\n affected individuals and 7,779 controls, we identified markers in chromosomal\n region 8q24 associated with colorectal cancer. In stage 1, we genotyped\n 99,632 SNPs in 1,257 affected individuals and 1,336 controls from Ontario. In\n stages 2-4, we performed serial replication studies using 4,024 affected\n individuals and 4,042 controls from Seattle, Newfoundland and Scotland. We\n identified one locus on chromosome 8q24 and another on 9p24 having combined\n odds ratios (OR) for stages 1-4 of 1.18 (trend; P = 1.41 x 10(-8)) and 1.14\n (trend; P = 1.32 x 10(-5)), respectively. Additional analyses in 2,199\n affected individuals and 2,401 controls from France and Europe supported the\n association at the 8q24 locus (OR = 1.16, trend; 95% confidence interval\n (c.i.): 1.07-1.26; P = 5.05 x 10(-4)). A summary across all seven studies at\n the 8q24 locus was highly significant (OR = 1.17, c.i.: 1.12-1.23; P = 3.16 x\n 10(-11)). This locus has also been implicated in prostate cancer.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 291, "pubmed_id": "17618283", "published_on": "2007-07-08", "metadata": "{u'essn': u'1546-1718', u'pages': u'989-94', u'locationlabel': u'', u'pubdate': u'2007 Aug', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'8', u'booktitle': u'', u'epubdate': u'2007 Jul 8', u'sorttitle': u'genome wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24', u'lastauthor': u'Dunlop MG', u'title': u'Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Zanke BW', u'sortpubdate': u'2007/08/01 00:00', u'uid': u'17618283', u'pmcrefcount': 291, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/04/20 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/06/01 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/07/10 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/09/20 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/07/10 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Zanke BW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Greenwood CM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rangrej J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kustra R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tenesa A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Farrington SM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Prendergast J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Olschwang S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chiang T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Crowdy E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ferretti V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Laflamme P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sundararajan S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Roumy S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Olivier JF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Robidoux F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sladek R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Montpetit A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Campbell P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bezieau S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"O'Shea AM\", u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zogopoulos G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cotterchio M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Newcomb P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McLaughlin J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Younghusband B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Green R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Green J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Porteous ME', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Campbell H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Blanche H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sahbatou M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tubacher E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bonaiti-Pelli\\xe9 C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Buecher B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Riboli E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kury S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chanock SJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Potter J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thomas G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gallinger S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hudson TJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dunlop MG', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'17618283', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng2089', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng2089', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17618283', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17618283', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'39'}", "phenotypes": [{"body_part": "colorectal", "fun": false, "description": "Colorectal cancer", "rsid": "10505477"}], "chrom": "8", "pos": 128407443, "personal": false}, {"title": "A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21.", "authors": "Tomlinson I", "abstract": "Much of the variation in inherited risk of colorectal cancer\n (CRC) is probably due to combinations of common low risk variants. We\n conducted a genome-wide association study of 550,000 tag SNPs in 930 familial\n colorectal tumor cases and 960 controls. The most strongly associated SNP (P\n = 1.72 x 10(-7), allelic test) was rs6983267 at 8q24.21. To validate this\n finding, we genotyped rs6983267 in three additional CRC case-control series\n (4,361 affected individuals and 3,752 controls; 1,901 affected individuals\n and 1,079 controls; 1,072 affected individuals and 415 controls) and\n replicated the association, providing P = 1.27 x 10(-14) (allelic test)\n overall, with odds ratios (ORs) of 1.27 (95% confidence interval (c.i.):\n 1.16-1.39) and 1.47 (95% c.i.: 1.34-1.62) for heterozygotes and rare\n homozygotes, respectively. Analyses based on 1,477 individuals with\n colorectal adenoma and 2,136 controls suggest that susceptibility to CRC is\n mediated through development of adenomas (OR = 1.21, 95% c.i.: 1.10-1.34; P =\n 6.89 x 10(-5)). These data show that common, low-penetrance susceptibility\n alleles predispose to colorectal neoplasia.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 313, "pubmed_id": "17618284", "published_on": "2007-07-08", "metadata": "{u'essn': u'1546-1718', u'pages': u'984-8', u'locationlabel': u'', u'pubdate': u'2007 Aug', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'8', u'booktitle': u'', u'epubdate': u'2007 Jul 8', u'sorttitle': u'genome wide association scan of tag snps identifies a susceptibility variant for colorectal cancer at 8q24 21', u'lastauthor': u'Houlston R', u'title': u'A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Tomlinson I', u'sortpubdate': u'2007/08/01 00:00', u'uid': u'17618284', u'pmcrefcount': 313, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/03/29 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/06/01 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/07/10 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/09/20 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/07/10 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18054583, u'refsource': u'Gastroenterology. 2007 Dec;133(6):2063-5', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Tomlinson I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Webb E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Carvajal-Carmona L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Broderick P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kemp Z', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Spain S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Penegar S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chandler I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gorman M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wood W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barclay E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lubbe S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Martin L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sellick G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jaeger E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hubner R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wild R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rowan A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fielding S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Howarth K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'CORGI Consortium.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Silver A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Atkin W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Muir K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Logan R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kerr D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Johnstone E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sieber O', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gray R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thomas H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Peto J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cazier JB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Houlston R', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'17618284', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng2085', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng2085', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17618284', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17618284', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'39'}", "phenotypes": [{"body_part": "colorectal", "fun": false, "description": "Colorectal cancer", "rsid": "6983267"}], "chrom": "8", "pos": 128413305, "personal": false}, {"title": "A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.", "authors": "Hakonarson H", "abstract": "Type 1 diabetes (T1D) in children results from autoimmune\n destruction of pancreatic beta cells, leading to insufficient production of\n insulin. A number of genetic determinants of T1D have already been\n established through candidate gene studies, primarily within the major\n histocompatibility complex but also within other loci. To identify new\n genetic factors that increase the risk of T1D, we performed a genome-wide\n association study in a large paediatric cohort of European descent. In\n addition to confirming previously identified loci, we found that T1D was\n significantly associated with variation within a 233-kb linkage\n disequilibrium block on chromosome 16p13. This region contains KIAA0350, the\n gene product of which is predicted to be a sugar-binding, C-type lectin.\n Three common non-coding variants of the gene (rs2903692, rs725613 and\n rs17673553) in strong linkage disequilibrium reached genome-wide significance\n for association with T1D. A subsequent transmission disequilibrium test\n replication study in an independent cohort confirmed the association. These\n results indicate that KIAA0350 might be involved in the pathogenesis of T1D\n and demonstrate the utility of the genome-wide association approach in the\n identification of previously unsuspected genetic determinants of complex\n traits.", "journal": {"name": "Nature", "impact_factor": 0.0}, "refcount": 181, "pubmed_id": "17632545", "published_on": "2007-07-15", "metadata": "{u'essn': u'1476-4687', u'pages': u'591-4', u'locationlabel': u'', u'pubdate': u'2007 Aug 2', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'7153', u'booktitle': u'', u'epubdate': u'2007 Jul 15', u'sorttitle': u'genome wide association study identifies kiaa0350 as a type 1 diabetes gene', u'lastauthor': u'Polychronakos C', u'title': u'A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.', u'fulljournalname': u'Nature', u'publisherlocation': u'', u'sortfirstauthor': u'Hakonarson H', u'sortpubdate': u'2007/08/02 00:00', u'uid': u'17632545', u'pmcrefcount': 181, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/04/30 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/06/11 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/07/17 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/09/06 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/07/17 09:00'}], u'issn': u'0028-0836', u'nlmuniqueid': u'0410462', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Hakonarson H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Grant SF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bradfield JP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Marchand L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kim CE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Glessner JT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Grabs R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Casalunovo T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Taback SP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Frackelton EC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lawson ML', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Robinson LJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Skraban R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lu Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chiavacci RM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stanley CA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kirsch SE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rappaport EF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Orange JS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Monos DS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Devoto M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Qu HQ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Polychronakos C', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nature', u'chapter': u'', u'articleids': [{u'value': u'17632545', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'nature06010', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/nature06010', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17632545', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17632545', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'448'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "2647044"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "2476601"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "1004446"}, {"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "2903692"}], "chrom": "16", "pos": 11238783, "personal": false}, {"title": "A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.", "authors": "Buch S", "abstract": "With an overall prevalence of 10-20%, gallstone disease\n (cholelithiasis) represents one of the most frequent and economically\n relevant health problems of industrialized countries. We performed an\n association scan of >500,000 SNPs in 280 individuals with gallstones and 360\n controls. A follow-up study of the 235 most significant SNPs in 1,105\n affected individuals and 873 controls replicated the disease association of\n SNP A-1791411 in ABCG8 (allelic P value P(CCA) = 4.1 x 10(-9)), which was\n subsequently attributed to coding variant rs11887534 (D19H). Additional\n replication was achieved in 728 German (P = 2.8 x 10(-7)) and 167 Chilean\n subjects (P = 0.02). The overall odds ratio for D19H carriership was 2.2 (95%\n confidence interval: 1.8-2.6, P = 1.4 x 10(-14)) in the full German sample.\n Association was stronger in subjects with cholesterol gallstones (odds ratio\n = 3.3), suggesting that His19 might be associated with a more efficient\n transport of cholesterol into the bile.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 47, "pubmed_id": "17632509", "published_on": "2007-07-15", "metadata": "{u'essn': u'1546-1718', u'pages': u'995-9', u'locationlabel': u'', u'pubdate': u'2007 Aug', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'8', u'booktitle': u'', u'epubdate': u'2007 Jul 15', u'sorttitle': u'genome wide association scan identifies the hepatic cholesterol transporter abcg8 as a susceptibility factor for human gallstone disease', u'lastauthor': u'Hampe J', u'title': u'A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Buch S', u'sortpubdate': u'2007/08/01 00:00', u'uid': u'17632509', u'pmcrefcount': 47, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/02/23 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/06/12 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/07/17 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/09/20 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/07/17 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 17969048, u'refsource': u'Hepatology. 2007 Nov;46(5):1661-3', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Buch S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schafmayer C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'V\\xf6lzke H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Becker C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Franke A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'von Eller-Eberstein H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kluck C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'B\\xe4ssmann I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Brosch M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lammert F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Miquel JF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nervi F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wittig M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rosskopf D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Timm B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'H\\xf6ll C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Seeger M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'ElSharawy A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lu T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Egberts J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'F\\xe4ndrich F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'F\\xf6lsch UR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Krawczak M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schreiber S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'N\\xfcrnberg P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tepel J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hampe J', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'17632509', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng2101', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng2101', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17632509', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17632509', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'39'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Gallstone disease", "rsid": "11887534"}], "chrom": "2", "pos": 44066247, "personal": false}, {"title": "Genomewide association analysis of coronary artery disease.", "authors": "Samani NJ", "abstract": "Modern genotyping platforms permit a systematic\n search for inherited components of complex diseases. We performed a joint\n analysis of two genomewide association studies of coronary artery disease.\n METHODS: We first identified chromosomal loci that were strongly associated\n with coronary artery disease in the Wellcome Trust Case Control Consortium\n (WTCCC) study (which involved 1926 case subjects with coronary artery disease\n and 2938 controls) and looked for replication in the German MI [Myocardial\n Infarction] Family Study (which involved 875 case subjects with myocardial\n infarction and 1644 controls). Data on other single-nucleotide polymorphisms\n (SNPs) that were significantly associated with coronary artery disease in\n either study (P<0.001) were then combined to identify additional loci with a\n high probability of true association. Genotyping in both studies was\n performed with the use of the GeneChip Human Mapping 500K Array Set\n (Affymetrix). RESULTS: Of thousands of chromosomal loci studied, the same\n locus had the strongest association with coronary artery disease in both the\n WTCCC and the German studies: chromosome 9p21.3 (SNP, rs1333049)\n (P=1.80x10(-14) and P=3.40x10(-6), respectively). Overall, the WTCCC study\n revealed nine loci that were strongly associated with coronary artery disease\n (P<1.2x10(-5) and less than a 50% chance of being falsely positive). In\n addition to chromosome 9p21.3, two of these loci were successfully replicated\n (adjusted P<0.05) in the German study: chromosome 6q25.1 (rs6922269) and\n chromosome 2q36.3 (rs2943634). The combined analysis of the two studies\n identified four additional loci significantly associated with coronary artery\n disease (P<1.3x10(-6)) and a high probability (>80%) of a true association:\n chromosomes 1p13.3 (rs599839), 1q41 (rs17465637), 10q11.21 (rs501120), and\n 15q22.33 (rs17228212). CONCLUSIONS: We identified several genetic loci that,\n individually and in aggregate, substantially affect the risk of development\n of coronary artery disease.", "journal": {"name": "N Engl J Med", "impact_factor": 0.0}, "refcount": 581, "pubmed_id": "17634449", "published_on": "2007-07-18", "metadata": "{u'essn': u'1533-4406', u'pages': u'443-53', u'locationlabel': u'', u'pubdate': u'2007 Aug 2', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5', u'booktitle': u'', u'epubdate': u'2007 Jul 18', u'sorttitle': u'genomewide association analysis of coronary artery disease', u'lastauthor': u'Schunkert H', u'title': u'Genomewide association analysis of coronary artery disease.', u'fulljournalname': u'The New England journal of medicine', u'publisherlocation': u'', u'sortfirstauthor': u'Samani NJ', u'sortpubdate': u'2007/08/02 00:00', u'uid': u'17634449', u'pmcrefcount': 581, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/07/20 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/08/10 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/07/20 09:00'}], u'issn': u'0028-4793', u'nlmuniqueid': u'0255562', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 17634453, u'refsource': u'N Engl J Med. 2007 Aug 2;357(5):497-9', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': 17634446, u'refsource': u'N Engl J Med. 2007 Aug 2;357(5):436-9', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Samani NJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Erdmann J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hall AS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hengstenberg C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mangino M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mayer B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dixon RJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Meitinger T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Braund P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wichmann HE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barrett JH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'K\\xf6nig IR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stevens SE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Szymczak S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tregouet DA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Iles MM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pahlke F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pollard H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lieb W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cambien F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fischer M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ouwehand W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Blankenberg S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Balmforth AJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Baessler A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ball SG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Strom TM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Braenne I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gieger C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Deloukas P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tobin MD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ziegler A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thompson JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schunkert H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'WTCCC and the Cardiogenics Consortium.', u'clusterid': u'', u'authtype': u'CollectiveName'}], u'attributes': [u'Has Abstract'], u'source': u'N Engl J Med', u'chapter': u'', u'articleids': [{u'value': u'17634449', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'NEJMoa072366', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1056/NEJMoa072366', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2719290', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'UKMS4594', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'17634449', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17634449', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2719290;manuscript-id: UKMS4594;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'357'}", "phenotypes": [{"body_part": "heart", "fun": false, "description": "Coronary heart disease", "rsid": "6922269"}, {"body_part": "heart", "fun": false, "description": "Coronary heart disease", "rsid": "2943634"}, {"body_part": "heart", "fun": false, "description": "Coronary heart disease", "rsid": "17465637"}, {"body_part": "heart", "fun": false, "description": "Coronary heart disease", "rsid": "1333049"}, {"body_part": "heart", "fun": false, "description": "Coronary heart disease", "rsid": "599839"}, {"body_part": "heart", "fun": false, "description": "Coronary heart disease", "rsid": "17228212"}, {"body_part": "heart", "fun": false, "description": "Coronary heart disease", "rsid": "501120"}], "chrom": "6", "pos": 151252985, "personal": false}, {"title": "Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.", "authors": "Winkelmann J", "abstract": "Restless legs syndrome (RLS) is a frequent neurological disorder\n characterized by an imperative urge to move the legs during night, unpleasant\n sensation in the lower limbs, disturbed sleep and increased cardiovascular\n morbidity. In a genome-wide association study we found highly significant\n associations between RLS and intronic variants in the homeobox gene MEIS1,\n the BTBD9 gene encoding a BTB(POZ) domain as well as variants in a third\n locus containing the genes encoding mitogen-activated protein kinase MAP2K5\n and the transcription factor LBXCOR1 on chromosomes 2p, 6p and 15q,\n respectively. Two independent replications confirmed these association\n signals. Each genetic variant was associated with a more than 50% increase in\n risk for RLS, with the combined allelic variants conferring more than half of\n the risk. MEIS1 has been implicated in limb development, raising the\n possibility that RLS has components of a developmental disorder.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 124, "pubmed_id": "17637780", "published_on": "2007-07-18", "metadata": "{u'essn': u'1546-1718', u'pages': u'1000-6', u'locationlabel': u'', u'pubdate': u'2007 Aug', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'8', u'booktitle': u'', u'epubdate': u'2007 Jul 18', u'sorttitle': u'genome wide association study of restless legs syndrome identifies common variants in three genomic regions', u'lastauthor': u'Meitinger T', u'title': u'Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Winkelmann J', u'sortpubdate': u'2007/08/01 00:00', u'uid': u'17637780', u'pmcrefcount': 124, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/04/11 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/06/12 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/07/20 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/09/20 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/07/20 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 17660808, u'refsource': u'Nat Genet. 2007 Aug;39(8):938-9', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Winkelmann J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schormair B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lichtner P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ripke S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Xiong L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jalilzadeh S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fulda S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'P\\xfctz B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Eckstein G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hauk S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Trenkwalder C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zimprich A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stiasny-Kolster K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Oertel W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bachmann CG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Paulus W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Peglau I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Eisensehr I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Montplaisir J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Turecki G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rouleau G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gieger C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Illig T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wichmann HE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Holsboer F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'M\\xfcller-Myhsok B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Meitinger T', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'17637780', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng2099', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng2099', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17637780', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17637780', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'39'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Restless legs syndrome", "rsid": "2300478"}, {"body_part": "", "fun": false, "description": "Restless legs syndrome", "rsid": "9296249"}, {"body_part": "", "fun": false, "description": "Restless legs syndrome", "rsid": "12593813"}], "chrom": "2", "pos": 66781453, "personal": false}, {"title": "A genetic risk factor for periodic limb movements in sleep.", "authors": "Stefansson H", "abstract": "The restless legs syndrome (RLS) is a common\n neurologic disorder characterized by an irresistible urge to move the legs.\n It is a major cause of sleep disruption. Periodic limb movements in sleep are\n detectable in most patients with RLS and represent an objective physiological\n metric. METHODS: To search for sequence variants contributing to RLS, we\n performed a genomewide association study and two replication studies. To\n minimize phenotypic heterogeneity, we focused on patients with RLS who had\n objectively documented periodic limb movements in sleep. We measured serum\n ferritin levels, since iron depletion has been associated with the\n pathogenesis of RLS. RESULTS: In an Icelandic discovery sample of patients\n with RLS and periodic limb movements in sleep, we observed a genomewide\n significant association with a common variant in an intron of BTBD9 on\n chromosome 6p21.2 (odds ratio, 1.8; P=2x10(-9)). This association was\n replicated in a second Icelandic sample (odds ratio, 1.8; P=4x10(-4)) and a\n U.S. sample (odds ratio, 1.5; P=4x10(-3)). With this variant, the population\n attributable risk of RLS with periodic limb movements was approximately 50%.\n An association between the variant and periodic limb movements in sleep\n without RLS (and the absence of such an association for RLS without periodic\n limb movements) suggests that we have identified a genetic determinant of\n periodic limb movements in sleep (odds ratio, 1.9; P=1x10(-17)). Serum\n ferritin levels were decreased by 13% per allele of the at-risk variant (95%\n confidence interval, 5 to 20; P=0.002). CONCLUSIONS: We have discovered a\n variant associated with susceptibility to periodic limb movements in sleep.\n The inverse correlation of the variant with iron stores is consistent with\n the suspected involvement of iron depletion in the pathogenesis of the\n disease.", "journal": {"name": "N Engl J Med", "impact_factor": 0.0}, "refcount": 111, "pubmed_id": "17634447", "published_on": "2007-07-19", "metadata": "{u'essn': u'1533-4406', u'pages': u'639-47', u'locationlabel': u'', u'pubdate': u'2007 Aug 16', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'7', u'booktitle': u'', u'epubdate': u'2007 Jul 18', u'sorttitle': u'genetic risk factor for periodic limb movements in sleep', u'lastauthor': u'Stefansson K', u'title': u'A genetic risk factor for periodic limb movements in sleep.', u'fulljournalname': u'The New England journal of medicine', u'publisherlocation': u'', u'sortfirstauthor': u'Stefansson H', u'sortpubdate': u'2007/08/16 00:00', u'uid': u'17634447', u'pmcrefcount': 111, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/07/20 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/08/25 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/07/20 09:00'}], u'issn': u'0028-4793', u'nlmuniqueid': u'0255562', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 17634452, u'refsource': u'N Engl J Med. 2007 Aug 16;357(7):703-5', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': 18219744, u'refsource': u'N Engl J Med. 2008 Jan 24;358(4):427-8', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': 18216367, u'refsource': u'N Engl J Med. 2008 Jan 24;358(4):425-7', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Stefansson H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rye DB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hicks A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Petursson H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ingason A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorgeirsson TE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Palsson S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sigmundsson T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sigurdsson AP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Eiriksdottir I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Soebech E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bliwise D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Beck JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rosen A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Waddy S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Trotti LM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Iranzo A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thambisetty M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hardarson GA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kristjansson K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudmundsson LJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorsteinsdottir U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kong A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gulcher JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudbjartsson D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansson K', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'N Engl J Med', u'chapter': u'', u'articleids': [{u'value': u'17634447', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'NEJMoa072743', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1056/NEJMoa072743', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17634447', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17634447', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'357'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Restless legs syndrome", "rsid": "3923809"}], "chrom": "6", "pos": 38440970, "personal": false}, {"title": "Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits.", "authors": "Scuteri A", "abstract": "The obesity epidemic is responsible for a substantial economic\n burden in developed countries and is a major risk factor for type 2 diabetes\n and cardiovascular disease. The disease is the result not only of several\n environmental risk factors, but also of genetic predisposition. To take\n advantage of recent advances in gene-mapping technology, we executed a\n genome-wide association scan to identify genetic variants associated with\n obesity-related quantitative traits in the genetically isolated population of\n Sardinia. Initial analysis suggested that several SNPs in the FTO and PFKP\n genes were associated with increased BMI, hip circumference, and weight.\n Within the FTO gene, rs9930506 showed the strongest association with BMI (p =\n 8.6 x10(-7)), hip circumference (p = 3.4 x 10(-8)), and weight (p = 9.1 x\n 10(-7)). In Sardinia, homozygotes for the rare ", "journal": {"name": "PLoS Genet", "impact_factor": 0.0}, "refcount": 461, "pubmed_id": "17658951", "published_on": "2007-07-20", "metadata": "{u'essn': u'1553-7404', u'pages': u'e115', u'locationlabel': u'', u'pubdate': u'2007 Jul', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'7', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'genome wide association scan shows genetic variants in the fto gene are associated with obesity related traits', u'lastauthor': u'Abecasis GR', u'title': u'Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits.', u'fulljournalname': u'PLoS genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Scuteri A', u'sortpubdate': u'2007/07/01 00:00', u'uid': u'17658951', u'pmcrefcount': 461, u'pubstatus': u'4', u'history': [{u'pubstatus': u'received', u'date': u'2007/04/16 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/05/31 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/07/31 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/06/05 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/07/31 09:00'}], u'issn': u'1553-7390', u'nlmuniqueid': u'101239074', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Scuteri A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sanna S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chen WM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Uda M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Albai G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Strait J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Najjar S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nagaraja R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Orr\\xfa M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Usala G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dei M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lai S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Maschio A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Busonero F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mulas A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ehret GB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fink AA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Weder AB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cooper RS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Galan P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chakravarti A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schlessinger D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cao A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lakatta E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Abecasis GR', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'PLoS Genet', u'chapter': u'', u'articleids': [{u'value': u'17658951', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'07-PLGE-RA-0253', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1371/journal.pgen.0030115', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1934391', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17658951', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17658951', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1934391;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'3'}", "phenotypes": [{"body_part": "weight", "fun": false, "description": "Obesity-related traits", "rsid": "9930506"}], "chrom": "16", "pos": 53830465, "personal": false}, {"title": "Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma.", "authors": "Moffatt MF", "abstract": "Asthma is caused by a combination of poorly understood genetic\n and environmental factors. We have systematically mapped the effects of\n single nucleotide polymorphisms (SNPs) on the presence of childhood onset\n asthma by genome-wide association. We characterized more than 317,000 SNPs in\n DNA from 994 patients with childhood onset asthma and 1,243 non-asthmatics,\n using family and case-referent panels. Here we show multiple markers on\n chromosome 17q21 to be strongly and reproducibly associated with childhood\n onset asthma in family and case-referent panels with a combined P value of P\n < 10(-12). In independent replication studies the 17q21 locus showed strong\n association with diagnosis of childhood asthma in 2,320 subjects from a\n cohort of German children (P = 0.0003) and in 3,301 subjects from the British\n 1958 Birth Cohort (P = 0.0005). We systematically evaluated the relationships\n between markers of the 17q21 locus and transcript levels of genes in\n Epstein-Barr virus (EBV)-transformed lymphoblastoid cell lines from children\n in the asthma family panel used in our association study. The SNPs associated\n with childhood asthma were consistently and strongly associated (P < 10(-22))\n in cis with transcript levels of ORMDL3, a member of a gene family that\n encodes transmembrane proteins anchored in the endoplasmic reticulum. The\n results indicate that genetic variants regulating ORMDL3 expression are\n determinants of susceptibility to childhood asthma.", "journal": {"name": "Nature", "impact_factor": 0.0}, "refcount": 409, "pubmed_id": "17611496", "published_on": "2007-07-26", "metadata": "{u'essn': u'1476-4687', u'pages': u'470-3', u'locationlabel': u'', u'pubdate': u'2007 Jul 26', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'7152', u'booktitle': u'', u'epubdate': u'2007 Jul 4', u'sorttitle': u'genetic variants regulating ormdl3 expression contribute to the risk of childhood asthma', u'lastauthor': u'Cookson WO', u'title': u'Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma.', u'fulljournalname': u'Nature', u'publisherlocation': u'', u'sortfirstauthor': u'Moffatt MF', u'sortpubdate': u'2007/07/26 00:00', u'uid': u'17611496', u'pmcrefcount': 409, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/04/24 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/06/14 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/07/06 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/08/29 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/07/06 09:00'}], u'issn': u'0028-0836', u'nlmuniqueid': u'0410462', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Moffatt MF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kabesch M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Liang L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dixon AL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Strachan D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heath S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Depner M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'von Berg A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bufe A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rietschel E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heinzmann A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Simma B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Frischer T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Willis-Owen SA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wong KC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Illig T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vogelberg C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Weiland SK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'von Mutius E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Abecasis GR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Farrall M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gut IG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lathrop GM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cookson WO', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nature', u'chapter': u'', u'articleids': [{u'value': u'17611496', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'nature06014', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/nature06014', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17611496', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17611496', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'448'}", "phenotypes": [{"body_part": "lung", "fun": false, "description": "Asthma", "rsid": "7216389"}], "chrom": "17", "pos": 38069949, "personal": false}, {"title": "Risk alleles for multiple sclerosis identified by a genomewide study.", "authors": "Hafler DA", "abstract": "Multiple sclerosis has a clinically significant\n heritable component. We conducted a genomewide association study to identify\n alleles associated with the risk of multiple sclerosis. METHODS: We used DNA\n microarray technology to identify common DNA sequence variants in 931 family\n trios (consisting of an affected child and both parents) and tested them for\n association. For replication, we genotyped another 609 family trios, 2322\n case subjects, and 789 control subjects and used genotyping data from two\n external control data sets. A joint analysis of data from 12,360 subjects was\n performed to estimate the overall significance and effect size of\n associations between alleles and the risk of multiple sclerosis. RESULTS: A\n transmission disequilibrium test of 334,923 single-nucleotide polymorphisms\n (SNPs) in 931 family trios revealed 49 SNPs having an association with\n multiple sclerosis (P<1x10(-4)); of these SNPs, 38 were selected for the\n second-stage analysis. A comparison between the 931 case subjects from the\n family trios and 2431 control subjects identified an additional\n nonoverlapping 32 SNPs (P<0.001). An additional 40 SNPs with less stringent P\n values (<0.01) were also selected, for a total of 110 SNPs for the\n second-stage analysis. Of these SNPs, two within the interleukin-2 receptor\n alpha gene (IL2RA) were strongly associated with multiple sclerosis\n (P=2.96x10(-8)), as were a nonsynonymous SNP in the interleukin-7 receptor\n alpha gene (IL7RA) (P=2.94x10(-7)) and multiple SNPs in the HLA-DRA locus\n (P=8.94x10(-81)). CONCLUSIONS: Alleles of IL2RA and IL7RA and those in the\n HLA locus are identified as heritable risk factors for multiple sclerosis.", "journal": {"name": "N Engl J Med", "impact_factor": 0.0}, "refcount": 475, "pubmed_id": "17660530", "published_on": "2007-07-29", "metadata": "{u'essn': u'1533-4406', u'pages': u'851-62', u'locationlabel': u'', u'pubdate': u'2007 Aug 30', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'9', u'booktitle': u'', u'epubdate': u'2007 Jul 29', u'sorttitle': u'risk alleles for multiple sclerosis identified by a genomewide study', u'lastauthor': u'Hauser SL', u'title': u'Risk alleles for multiple sclerosis identified by a genomewide study.', u'fulljournalname': u'The New England journal of medicine', u'publisherlocation': u'', u'sortfirstauthor': u'Hafler DA', u'sortpubdate': u'2007/08/30 00:00', u'uid': u'17660530', u'pmcrefcount': 475, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/07/31 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/09/07 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/07/31 09:00'}], u'issn': u'0028-4793', u'nlmuniqueid': u'0255562', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 17660531, u'refsource': u'N Engl J Med. 2007 Aug 30;357(9):927-9', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': 18032773, u'refsource': u'N Engl J Med. 2007 Nov 22;357(21):2199-200; author reply 2200-1', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': 18038462, u'refsource': u'N Engl J Med. 2007 Nov 22;357(21):2200; author reply 2200-1', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': 18038461, u'refsource': u'N Engl J Med. 2007 Nov 22;357(21):2200; author reply 2200-1', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'International Multiple Sclerosis Genetics Consortium.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Hafler DA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Compston A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sawcer S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lander ES', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Daly MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'De Jager PL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'de Bakker PI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gabriel SB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mirel DB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ivinson AJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pericak-Vance MA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gregory SG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rioux JD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McCauley JL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Haines JL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barcellos LF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cree B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Oksenberg JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hauser SL', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'N Engl J Med', u'chapter': u'', u'articleids': [{u'value': u'17660530', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'NEJMoa073493', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1056/NEJMoa073493', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17660530', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17660530', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'357'}", "phenotypes": [{"body_part": "brain", "fun": false, "description": "Multiple sclerosis", "rsid": "12722489"}, {"body_part": "brain", "fun": false, "description": "Multiple sclerosis", "rsid": "6897932"}, {"body_part": "brain", "fun": false, "description": "Multiple sclerosis", "rsid": "6498169"}, {"body_part": "brain", "fun": false, "description": "Multiple sclerosis", "rsid": "6604026"}, {"body_part": "brain", "fun": false, "description": "Multiple sclerosis", "rsid": "10984447"}, {"body_part": "brain", "fun": false, "description": "Multiple sclerosis", "rsid": "3135388"}], "chrom": "10", "pos": 6102012, "personal": false}, {"title": "A whole genome association study of neuroticism using DNA pooling.", "authors": "Shifman S", "abstract": "We describe a multistage approach to identify single nucleotide\n polymorphisms (SNPs) associated with neuroticism, a personality trait that\n shares genetic determinants with major depression and anxiety disorders.\n Whole genome association with 452 574 SNPs was performed on DNA pools from\n approximately 2000 individuals selected on extremes of neuroticism scores\n from a cohort of 88 142 people from southwest England. The most significant\n SNPs were then genotyped on independent samples to replicate findings. We\n were able to replicate association of one SNP within the PDE4D gene in a\n second sample collected by our laboratory and in a family-based test in an\n independent sample; however, the SNP was not significantly associated with\n neuroticism in two other independent samples. We also observed an enrichment\n of low P-values in known regions of copy number variations. Simulation\n indicates that our study had approximately 80% power to identify neuroticism\n loci in the genome with odds ratio (OR)>2, and approximately 50% power to\n identify small effects (OR=1.5). Since we failed to find any loci accounting\n for more than 1% of the variance, the heritability of neuroticism probably\n arises from many loci each explaining much less than 1%. Our findings argue\n the need for much larger samples than anticipated in genetic association\n studies and that the biological basis of emotional disorders is extremely\n complex.", "journal": {"name": "Mol Psychiatry", "impact_factor": 0.0}, "refcount": 49, "pubmed_id": "17667963", "published_on": "2007-07-31", "metadata": "{u'essn': u'1476-5578', u'pages': u'302-12', u'locationlabel': u'', u'pubdate': u'2008 Mar', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'3', u'booktitle': u'', u'epubdate': u'2007 Jul 31', u'sorttitle': u'whole genome association study of neuroticism using dna pooling', u'lastauthor': u'Flint J', u'title': u'A whole genome association study of neuroticism using DNA pooling.', u'fulljournalname': u'Molecular psychiatry', u'publisherlocation': u'', u'sortfirstauthor': u'Shifman S', u'sortpubdate': u'2008/03/01 00:00', u'uid': u'17667963', u'pmcrefcount': 49, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/08/02 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/04/18 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/08/02 09:00'}], u'issn': u'1359-4184', u'nlmuniqueid': u'9607835', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18711446, u'refsource': u'Mol Psychiatry. 2008 Sep;13(9):831-2', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Shifman S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bhomra A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Smiley S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wray NR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'James MR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Martin NG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hettema JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'An SS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Neale MC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'van den Oord EJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kendler KS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chen X', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Boomsma DI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Middeldorp CM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hottenga JJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Slagboom PE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Flint J', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Mol Psychiatry', u'chapter': u'', u'articleids': [{u'value': u'17667963', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'4002048', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/sj.mp.4002048', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC4004964', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS572905', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'17667963', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17667963', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC4004964;manuscript-id: NIHMS572905;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'13'}", "phenotypes": [{"body_part": "brain", "fun": false, "description": "Neuroticism", "rsid": "702543"}], "chrom": "5", "pos": 58842774, "personal": false}, {"title": "Genetic variations associated with diabetic nephropathy and type II diabetes in a Japanese population.", "authors": "Maeda S", "abstract": "Genetic susceptibility plays an important role in the\n pathogenesis of diabetic nephropathy and type II diabetes. To identify the\n genetic polymorphisms associated with diabetic nephropathy and type II\n diabetes, we performed a genome-wide association study using\n single-nucleotide polymorphisms as genetic markers. We also analyzed\n polymorphisms within the genes encoding for the renin-angiotensin system that\n were considered as candidate genes for diabetic nephropathy susceptibility\n and the transcription factor 7-like 2 (TCF7L2) as a candidate for type II\n diabetes, in a large cohort of a Japanese population. A genome-wide\n association study identified SLC12A3 and engulfment and cell motility 1 gene\n as the new candidates for diabetic nephropathy and transcription\n factor-activating protein 2beta as a novel susceptibility gene for type II\n diabetes; this observation was based on the significant association between\n the polymorphisms within the genes and the corresponding diseases (P<0.0001).\n Further, we discovered that the genes encoding the angiotensin-converting\n enzyme, angiotensinogen, and angiotensin II type I receptor have a\n significant combinational effect on conferring susceptibility to diabetic\n nephropathy. Furthermore, TCF7L2 that has been reported as a convincing\n susceptibility gene for type II diabetes in Caucasian populations was also\n shown to be associated with type II diabetes in a Japanese population. These\n genes could be considered as strong susceptibility genes for diabetic\n nephropathy and type II diabetes in the Japanese, although the new candidates\n that have been identified by genome-wide screening need to be examined in\n greater detail by several replication studies.", "journal": {"name": "Kidney Int Suppl", "impact_factor": 0.0}, "refcount": 15, "pubmed_id": "17653210", "published_on": "2007-08-01", "metadata": "{u'essn': u'', u'pages': u'S43-8', u'locationlabel': u'', u'pubdate': u'2007 Aug', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'106', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'genetic variations associated with diabetic nephropathy and type ii diabetes in a japanese population', u'lastauthor': u'Kikkawa R', u'title': u'Genetic variations associated with diabetic nephropathy and type II diabetes in a Japanese population.', u'fulljournalname': u'Kidney international. Supplement', u'publisherlocation': u'', u'sortfirstauthor': u'Maeda S', u'sortpubdate': u'2007/08/01 00:00', u'uid': u'17653210', u'pmcrefcount': 15, u'pubstatus': u'4', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/08/04 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/10/19 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/08/04 09:00'}], u'issn': u'0098-6577', u'nlmuniqueid': u'7508622', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Maeda S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Osawa N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hayashi T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tsukada S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kobayashi M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kikkawa R', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Kidney Int Suppl', u'chapter': u'', u'articleids': [{u'value': u'17653210', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'5002385', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/sj.ki.5002385', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17653210', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17653210', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u''}", "phenotypes": [{"body_part": "", "fun": false, "description": "Type 2 diabetes nephropathy", "rsid": "741301"}], "chrom": "7", "pos": 36917995, "personal": false}, {"title": "Systematic association mapping identifies NELL1 as a novel IBD disease gene.", "authors": "Franke A", "abstract": "Crohn disease (CD), a sub-entity of inflammatory bowel disease\n (IBD), is a complex polygenic disorder. Although recent studies have\n successfully identified CD-associated genetic variants, these susceptibility\n loci explain only a fraction of the heritability of the disease. Here, we\n report on a multi-stage genome-wide scan of 393 German CD cases and 399\n controls. Among the 116,161 single-nucleotide polymorphisms tested, an\n association with the known CD susceptibility gene NOD2, the 5q31 haplotype,\n and the recently reported CD locus at 5p13.1 was confirmed. In addition, SNP\n rs1793004 in the gene encoding nel-like 1 precursor (NELL1, chromosome\n 11p15.1) showed a consistent disease-association in independent German\n population- and family-based samples (942 cases, 1082 controls, 375 trios).\n Subsequent fine mapping and replication in an independent sample of 454\n French/Canadian CD trios supported the authenticity of the NELL1 association.\n Further confirmation in a large German ulcerative colitis (UC) sample\n indicated that NELL1 is a ubiquitous IBD susceptibility locus (combined\n p<10(-6); OR = 1.66, 95% CI: 1.30-2.11). The novel 5p13.1 locus was also\n replicated in the French/Canadian sample and in an independent UK CD patient\n panel (453 cases, 521 controls, combined p<10(-6) for SNP rs1992660). Several\n associations were replicated in at least one independent sample, point to an\n involvement of ITGB6 (upstream), GRM8 (downstream), OR5V1 (downstream),\n PPP3R2 (downstream), NM_152575 (upstream) and HNF4G (intron).", "journal": {"name": "PLoS One", "impact_factor": 0.0}, "refcount": 32, "pubmed_id": "17684544", "published_on": "2007-08-08", "metadata": "{u'essn': u'1932-6203', u'pages': u'e691', u'locationlabel': u'', u'pubdate': u'2007 Aug 8', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'8', u'booktitle': u'', u'epubdate': u'2007 Aug 8', u'sorttitle': u'systematic association mapping identifies nell1 as a novel ibd disease gene', u'lastauthor': u'Schreiber S', u'title': u'Systematic association mapping identifies NELL1 as a novel IBD disease gene.', u'fulljournalname': u'PloS one', u'publisherlocation': u'', u'sortfirstauthor': u'Franke A', u'sortpubdate': u'2007/08/08 00:00', u'uid': u'17684544', u'pmcrefcount': 32, u'pubstatus': u'3', u'history': [{u'pubstatus': u'received', u'date': u'2007/06/15 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/06/20 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/08/09 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/08/09 09:01'}, {u'pubstatus': u'entrez', u'date': u'2007/08/09 09:00'}], u'issn': u'', u'nlmuniqueid': u'101285081', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Franke A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hampe J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rosenstiel P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Becker C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wagner F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'H\\xe4sler R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Little RD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Huse K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ruether A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Balschun T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wittig M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Elsharawy A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mayr G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Albrecht M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Prescott NJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Onnie CM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fournier H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Keith T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Radelof U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Platzer M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mathew CG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stoll M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Krawczak M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'N\\xfcrnberg P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schreiber S', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'PLoS One', u'chapter': u'', u'articleids': [{u'value': u'17684544', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'10.1371/journal.pone.0000691', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1933598', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17684544', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17684544', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1933598;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'2'}", "phenotypes": [{"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "2076756"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "1992660"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "1793004"}], "chrom": "16", "pos": 50756881, "personal": false}, {"title": "Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.", "authors": "Thorleifsson G", "abstract": "Glaucoma is a leading cause of irreversible blindness. A\n genome-wide search yielded multiple single-nucleotide polymorphisms (SNPs) in\n the 15q24.1 region associated with glaucoma. Further investigation revealed\n that the association is confined to exfoliation glaucoma (XFG). Two\n nonsynonymous SNPs in exon 1 of the gene LOXL1 explain the association, and\n the data suggest that they confer risk of XFG mainly through exfoliation\n syndrome (XFS). About 25% of the general population is homozygous for the\n highest-risk haplotype, and their risk of suffering from XFG is more than 100\n times that of individuals carrying only low-risk haplotypes. The\n population-attributable risk is more than 99%. The product of LOXL1 catalyzes\n the formation of elastin fibers found to be a major component of the lesions\n in XFG.", "journal": {"name": "Science", "impact_factor": 37.205}, "refcount": 196, "pubmed_id": "17690259", "published_on": "2007-08-09", "metadata": "{u'essn': u'1095-9203', u'pages': u'1397-400', u'locationlabel': u'', u'pubdate': u'2007 Sep 7', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5843', u'booktitle': u'', u'epubdate': u'2007 Aug 9', u'sorttitle': u'common sequence variants in the loxl1 gene confer susceptibility to exfoliation glaucoma', u'lastauthor': u'Stefansson K', u'title': u'Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.', u'fulljournalname': u'Science (New York, N.Y.)', u'publisherlocation': u'', u'sortfirstauthor': u'Thorleifsson G', u'sortpubdate': u'2007/09/07 00:00', u'uid': u'17690259', u'pmcrefcount': 196, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/08/11 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/09/22 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/08/11 09:00'}], u'issn': u'0036-8075', u'nlmuniqueid': u'0404511', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18036875, u'refsource': u'Am J Ophthalmol. 2007 Dec;144(6):974-975', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Thorleifsson G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Magnusson KP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sulem P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Walters GB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudbjartsson DF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansson H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonsson T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonasdottir A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonasdottir A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansdottir G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Masson G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hardarson GA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Petursson H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Arnarsson A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Motallebipour M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wallerman O', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wadelius C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gulcher JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorsteinsdottir U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kong A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonasson F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansson K', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Science', u'chapter': u'', u'articleids': [{u'value': u'17690259', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1146554', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1126/science.1146554', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17690259', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17690259', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'317'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Glaucoma (exfoliation)", "rsid": "3825942"}], "chrom": "15", "pos": 74219582, "personal": false}, {"title": "A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.", "authors": "Menzel S", "abstract": "F cells measure the presence of fetal hemoglobin, a heritable\n quantitative trait in adults that accounts for substantial phenotypic\n diversity of sickle cell disease and beta thalassemia. We applied a\n genome-wide association mapping strategy to individuals with contrasting\n extreme trait values and mapped a new F cell quantitative trait locus to\n BCL11A, which encodes a zinc-finger protein, on chromosome 2p15. The 2p15\n BCL11A quantitative trait locus accounts for 15.1% of the trait variance.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 129, "pubmed_id": "17767159", "published_on": "2007-09-02", "metadata": "{u'essn': u'1546-1718', u'pages': u'1197-9', u'locationlabel': u'', u'pubdate': u'2007 Oct', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'10', u'booktitle': u'', u'epubdate': u'2007 Sep 2', u'sorttitle': u'qtl influencing f cell production maps to a gene encoding a zinc finger protein on chromosome 2p15', u'lastauthor': u'Thein SL', u'title': u'A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Menzel S', u'sortpubdate': u'2007/10/01 00:00', u'uid': u'17767159', u'pmcrefcount': 129, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/03/15 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/07/02 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/09/04 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/01/23 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/09/04 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Menzel S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Garner C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gut I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Matsuda F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yamaguchi M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heath S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Foglio M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zelenika D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Boland A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rooks H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Best S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Spector TD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Farrall M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lathrop M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thein SL', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'17767159', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng2108', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng2108', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17767159', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17767159', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'39'}", "phenotypes": [{"body_part": "", "fun": false, "description": "F-cell distribution", "rsid": ""}, {"body_part": "", "fun": false, "description": "F-cell distribution", "rsid": "1427407"}, {"body_part": "", "fun": false, "description": "F-cell distribution", "rsid": "9399137"}], "chrom": "2", "pos": 60718043, "personal": false}, {"title": "A common variant of HMGA2 is associated with adult and childhood height in the general population.", "authors": "Weedon MN", "abstract": "Human height is a classic, highly heritable quantitative trait.\n To begin to identify genetic variants influencing height, we examined\n genome-wide association data from 4,921 individuals. Common variants in the\n HMGA2 oncogene, exemplified by rs1042725, were associated with height (P = 4\n x 10(-8)). HMGA2 is also a strong biological candidate for height, as rare,\n severe mutations in this gene alter body size in mice and humans, so we\n tested rs1042725 in additional samples. We confirmed the association in\n 19,064 adults from four further studies (P = 3 x 10(-11), overall P = 4 x\n 10(-16), including the genome-wide association data). We also observed the\n association in children (P = 1 x 10(-6), N = 6,827) and a tall/short\n case-control study (P = 4 x 10(-6), N = 3,207). We estimate that rs1042725\n explains approximately 0.3% of population variation in height (approximately\n 0.4 cm increased adult height per C allele). There are few examples of common\n genetic variants reproducibly associated with human quantitativetraits; these\n results represent, to our knowledge, the first consistently replicated\n association with adult and childhood height.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 128, "pubmed_id": "17767157", "published_on": "2007-09-02", "metadata": "{u'essn': u'1546-1718', u'pages': u'1245-50', u'locationlabel': u'', u'pubdate': u'2007 Oct', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'10', u'booktitle': u'', u'epubdate': u'2007 Sep 2', u'sorttitle': u'common variant of hmga2 is associated with adult and childhood height in the general population', u'lastauthor': u'Frayling TM', u'title': u'A common variant of HMGA2 is associated with adult and childhood height in the general population.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Weedon MN', u'sortpubdate': u'2007/10/01 00:00', u'uid': u'17767157', u'pmcrefcount': 128, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/04/17 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/08/03 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/09/04 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/01/23 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/09/04 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Weedon MN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lettre G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Freathy RM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lindgren CM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Voight BF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Perry JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Elliott KS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hackett R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Guiducci C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Shields B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zeggini E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lango H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lyssenko V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Timpson NJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Burtt NP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rayner NW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Saxena R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ardlie K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tobias JH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ness AR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ring SM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Palmer CN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Morris AD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Peltonen L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Salomaa V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Diabetes Genetics Initiative.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Wellcome Trust Case Control Consortium.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Davey Smith G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Groop LC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hattersley AT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McCarthy MI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hirschhorn JN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Frayling TM', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'17767157', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng2121', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng2121', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC3086278', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'UKMS35163', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'17767157', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17767157', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC3086278;manuscript-id: UKMS35163;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'39'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Height", "rsid": "1042725"}], "chrom": "12", "pos": 66358347, "personal": false}, {"title": "TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.", "authors": "Plenge RM", "abstract": "Rheumatoid arthritis has a complex mode of\n inheritance. Although HLA-DRB1 and PTPN22 are well-established susceptibility\n loci, other genes that confer a modest level of risk have been identified\n recently. We carried out a genomewide association analysis to identify\n additional genetic loci associated with an increased risk of rheumatoid\n arthritis. METHODS: We genotyped 317,503 single-nucleotide polymorphisms\n (SNPs) in a combined case-control study of 1522 case subjects with rheumatoid\n arthritis and 1850 matched control subjects. The patients were seropositive\n for autoantibodies against cyclic citrullinated peptide (CCP). We obtained\n samples from two data sets, the North American Rheumatoid Arthritis\n Consortium (NARAC) and the Swedish Epidemiological Investigation of\n Rheumatoid Arthritis (EIRA). Results from NARAC and EIRA for 297,086 SNPs\n that passed quality-control filters were combined with the use of\n Cochran-Mantel-Haenszel stratified analysis. SNPs showing a significant\n association with disease (P<1x10(-8)) were genotyped in an independent set of\n case subjects with anti-CCP-positive rheumatoid arthritis (485 from NARAC and\n 512 from EIRA) and in control subjects (1282 from NARAC and 495 from EIRA).\n RESULTS: We observed associations between disease and variants in the\n major-histocompatibility-complex locus, in PTPN22, and in a SNP (rs3761847)\n on chromosome 9 for all samples tested, the latter with an odds ratio of 1.32\n (95% confidence interval, 1.23 to 1.42; P=4x10(-14)). The SNP is in linkage\n disequilibrium with two genes relevant to chronic inflammation: TRAF1\n (encoding tumor necrosis factor receptor-associated factor 1) and C5\n (encoding complement component 5). CONCLUSIONS: A common genetic variant at\n the TRAF1-C5 locus on chromosome 9 is associated with an increased risk of\n anti-CCP-positive rheumatoid arthritis.", "journal": {"name": "N Engl J Med", "impact_factor": 0.0}, "refcount": 302, "pubmed_id": "17804836", "published_on": "2007-09-05", "metadata": "{u'essn': u'1533-4406', u'pages': u'1199-209', u'locationlabel': u'', u'pubdate': u'2007 Sep 20', u'medium': u'', u'pubtype': [u'Journal Article', u'Multicenter Study'], u'availablefromurl': u'', u'issue': u'12', u'booktitle': u'', u'epubdate': u'2007 Sep 5', u'sorttitle': u'traf1 c5 as a risk locus for rheumatoid arthritis a genomewide study', u'lastauthor': u'Gregersen PK', u'title': u'TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.', u'fulljournalname': u'The New England journal of medicine', u'publisherlocation': u'', u'sortfirstauthor': u'Plenge RM', u'sortpubdate': u'2007/09/20 00:00', u'uid': u'17804836', u'pmcrefcount': 302, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/09/07 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/09/27 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/09/07 09:00'}], u'issn': u'0028-4793', u'nlmuniqueid': u'0255562', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 17804837, u'refsource': u'N Engl J Med. 2007 Sep 20;357(12):1250-1', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Plenge RM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Seielstad M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Padyukov L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lee AT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Remmers EF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ding B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Liew A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Khalili H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chandrasekaran A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Davies LR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Li W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tan AK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bonnard C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ong RT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thalamuthu A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pettersson S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Liu C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tian C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chen WV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Carulli JP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Beckman EM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Altshuler D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Alfredsson L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Criswell LA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Amos CI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Seldin MF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kastner DL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Klareskog L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gregersen PK', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'N Engl J Med', u'chapter': u'', u'articleids': [{u'value': u'17804836', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'NEJMoa073491', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1056/NEJMoa073491', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2636867', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS85972', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'17804836', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17804836', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2636867;manuscript-id: NIHMS85972;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'357'}", "phenotypes": [{"body_part": "bone", "fun": false, "description": "Rheumatoid arthritis", "rsid": "3761847"}, {"body_part": "bone", "fun": false, "description": "Rheumatoid arthritis", "rsid": "2476601"}, {"body_part": "bone", "fun": false, "description": "Rheumatoid arthritis", "rsid": "660895"}], "chrom": "9", "pos": 123690239, "personal": false}, {"title": "Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.", "authors": "Raelson JV", "abstract": "Genome-wide association (GWA) studies offer a powerful unbiased\n method for the identification of multiple susceptibility genes for complex\n diseases. Here we report the results of a GWA study for Crohn's disease (CD)\n using family trios from the Quebec Founder Population (QFP). Haplotype-based\n association analyses identified multiple regions associated with the disease\n that met the criteria for genome-wide significance, with many containing a\n gene whose function appears relevant to CD. A proportion of these were\n replicated in two independent German Caucasian samples, including the\n established CD loci NOD2 and IBD5. The recently described IL23R locus was\n also identified and replicated. For this region, multiple individuals with\n all major haplotypes in the QFP were sequenced and extensive fine mapping\n performed to identify risk and protective alleles. Several additional loci,\n including a region on 3p21 containing several plausible candidate genes, a\n region near JAKMIP1 on 4p16.1, and two larger regions on chromosome 17 were\n replicated. Together with previously published loci, the spectrum of CD genes\n identified to date involves biochemical networks that affect epithelial\n defense mechanisms, innate and adaptive immune response, and the repair or\n remodeling of tissue.", "journal": {"name": "Proc Natl Acad Sci U S A", "impact_factor": 0.0}, "refcount": 57, "pubmed_id": "17804789", "published_on": "2007-09-05", "metadata": "{u'essn': u'1091-6490', u'pages': u'14747-52', u'locationlabel': u'', u'pubdate': u'2007 Sep 11', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'37', u'booktitle': u'', u'epubdate': u'2007 Sep 5', u'sorttitle': u'genome wide association study for crohn s disease in the quebec founder population identifies multiple validated disease loci', u'lastauthor': u'Schreiber S', u'title': u\"Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.\", u'fulljournalname': u'Proceedings of the National Academy of Sciences of the United States of America', u'publisherlocation': u'', u'sortfirstauthor': u'Raelson JV', u'sortpubdate': u'2007/09/11 00:00', u'uid': u'17804789', u'pmcrefcount': 57, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/09/07 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/11/02 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/09/07 09:00'}], u'issn': u'0027-8424', u'nlmuniqueid': u'7505876', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Raelson JV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Little RD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ruether A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fournier H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Paquin B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Van Eerdewegh P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bradley WE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Croteau P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nguyen-Huu Q', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Segal J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Debrus S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Allard R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rosenstiel P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Franke A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jacobs G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nikolaus S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vidal JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Szego P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Laplante N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Clark HF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Paulussen RJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hooper JW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Keith TP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Belouchi A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schreiber S', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Proc Natl Acad Sci U S A', u'chapter': u'', u'articleids': [{u'value': u'17804789', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'0706645104', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1073/pnas.0706645104', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1965486', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17804789', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17804789', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1965486;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'104'}", "phenotypes": [{"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": ""}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "5743289"}], "chrom": null, "pos": null, "personal": false}, {"title": "ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study.", "authors": "van Es MA", "abstract": "Amyotrophic lateral sclerosis (ALS) is a devastating\n disease characterised by progressive degeneration of motor neurons in the\n brain and spinal cord. ALS is thought to be multifactorial, with both\n environmental and genetic causes. Our aim was to identify genetic variants\n that predispose for sporadic ALS. METHODS: We did a three-stage genome-wide\n association study in 461 patients with ALS and 450 controls from The\n Netherlands, using Illumina 300K single-nucleotide polymorphism (SNP) chips.\n The SNPs that were most strongly associated with ALS were analysed in a\n further 876 patients and 906 controls in independent sample series from The\n Netherlands, Belgium, and Sweden. We also investigated the possible\n pathological functions of associated genes using expression data from whole\n blood of patients with sporadic ALS and of control individuals who were\n included in the genome-wide association study. FINDINGS: A genetic variant in\n the inositol 1,4,5-triphosphate receptor 2 gene (ITPR2) was associated with\n ALS (p=0.012 after Bonferroni correction). Combined analysis of all samples\n (1337 patients and 1356 controls) confirmed this association (p=3.28x10(-6),\n odds ratio 1.58, 95% CI 1.30-1.91). ITPR2 expression was greater in the\n peripheral blood of 126 ALS patients than in that of 126 healthy controls\n (p=0.00016). INTERPRETATION: Genetic variation in ITPR2 is a susceptibility\n factor for ALS. ITPR2 is a strong candidate susceptibility gene for ALS\n because it is involved in glutamate-mediated neurotransmission, is one of the\n main regulators of intracellular calcium concentrations, and has an important\n role in apoptosis.", "journal": {"name": "Lancet Neurol", "impact_factor": 0.0}, "refcount": 53, "pubmed_id": "17827064", "published_on": "2007-09-07", "metadata": "{u'essn': u'1474-4465', u'pages': u'869-77', u'locationlabel': u'', u'pubdate': u'2007 Oct', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'10', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'itpr2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis a genome wide association study', u'lastauthor': u'van den Berg LH', u'title': u'ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study.', u'fulljournalname': u'The Lancet. Neurology', u'publisherlocation': u'', u'sortfirstauthor': u'van Es MA', u'sortpubdate': u'2007/10/01 00:00', u'uid': u'17827064', u'pmcrefcount': 53, u'pubstatus': u'4', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/09/11 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/11/06 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/09/11 09:00'}], u'issn': u'1474-4422', u'nlmuniqueid': u'101139309', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 17884667, u'refsource': u'Lancet Neurol. 2007 Oct;6(10):841-3', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'van Es MA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Van Vught PW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Blauw HM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Franke L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Saris CG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Andersen PM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Van Den Bosch L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'de Jong SW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"van 't Slot R\", u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Birve A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lemmens R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'de Jong V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Baas F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schelhaas HJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sleegers K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Van Broeckhoven C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wokke JH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wijmenga C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Robberecht W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Veldink JH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ophoff RA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'van den Berg LH', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Lancet Neurol', u'chapter': u'', u'articleids': [{u'value': u'17827064', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'S1474-4422(07)70222-3', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1016/S1474-4422(07)70222-3', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17827064', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17827064', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'6'}", "phenotypes": [{"body_part": "brain", "fun": false, "description": "Amyotrophic lateral sclerosis", "rsid": "2306677"}], "chrom": "12", "pos": 26636386, "personal": false}, {"title": "Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.", "authors": "O'Donnell CJ", "abstract": "INTRODUCTION: Subclinical atherosclerosis (SCA) measures in\n multiple arterial beds are heritable phenotypes that are associated with\n increased incidence of cardiovascular disease. We conducted a genome-wide\n association study (GWAS) for SCA measurements in the community-based\n Framingham Heart Study. METHODS: Over 100,000 single nucleotide polymorphisms\n (SNPs) were genotyped (Human 100K GeneChip, Affymetrix) in 1345 subjects from\n 310 families. We calculated sex-specific age-adjusted and\n multivariable-adjusted residuals in subjects tested for quantitative SCA\n phenotypes, including ankle-brachial index, coronary artery calcification and\n abdominal aortic calcification using multi-detector computed tomography, and\n carotid intimal medial thickness (IMT) using carotid ultrasonography. We\n evaluated associations of these phenotypes with 70,987 autosomal SNPs with\n minor allele frequency > or = 0.10, call rate > or = 80%, and Hardy-Weinberg\n p-value > or = 0.001 in samples ranging from 673 to 984 subjects, using\n linear regression with generalized estimating equations (GEE) methodology and\n family-based association testing (FBAT). Variance components LOD scores were\n also calculated. RESULTS: There was no association result meeting criteria\n for genome-wide significance, but our methods identified 11 SNPs with p <\n 10(-5) by GEE and five SNPs with p < 10(-5) by FBAT for\n multivariable-adjusted phenotypes. Among the associated variants were SNPs in\n or near genes that may be considered candidates for further study, such as\n rs1376877 (GEE p < 0.000001, located in ABI2) for maximum internal carotid\n artery IMT and rs4814615 (FBAT p = 0.000003, located in PCSK2) for maximum\n common carotid artery IMT. Modest significant associations were noted with\n various SCA phenotypes for variants in previously reported atherosclerosis\n candidate genes, including NOS3 and ESR1. Associations were also noted of a\n region on chromosome 9p21 with CAC phenotypes that confirm associations with\n coronary heart disease and CAC in two recently reported genome-wide\n association studies. In linkage analyses, several regions of genome-wide\n linkage were noted, confirming previously reported linkage of internal\n carotid artery IMT on chromosome 12. All GEE, FBAT and linkage results are\n provided as an open-access results resource at\n http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007\n webcite. CONCLUSION: The results from this GWAS generate hypotheses regarding\n several SNPs that may be associated with SCA phenotypes in multiple arterial\n beds. Given the number of tests conducted, subsequent independent replication\n in a staged approach is essential to identify genetic variants that may be\n implicated in atherosclerosis.", "journal": {"name": "BMC Med Genet", "impact_factor": 0.0}, "refcount": 59, "pubmed_id": "17903303", "published_on": "2007-09-19", "metadata": "{u'essn': u'1471-2350', u'pages': u'S4', u'locationlabel': u'', u'pubdate': u'2007 Sep 19', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'', u'booktitle': u'', u'epubdate': u'2007 Sep 19', u'sorttitle': u'genome wide association study for subclinical atherosclerosis in major arterial territories in the nhlbi s framingham heart study', u'lastauthor': u'Demissie S', u'title': u\"Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.\", u'fulljournalname': u'BMC medical genetics', u'publisherlocation': u'', u'sortfirstauthor': u\"O'Donnell CJ\", u'sortpubdate': u'2007/09/19 00:00', u'uid': u'17903303', u'pmcrefcount': 59, u'pubstatus': u'3', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/10/16 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/11/08 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/10/16 09:00'}], u'issn': u'', u'nlmuniqueid': u'100968552', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u\"O'Donnell CJ\", u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cupples LA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"D'Agostino RB\", u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fox CS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hoffmann U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hwang SJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ingellson E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Liu C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Murabito JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Polak JF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wolf PA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Demissie S', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'BMC Med Genet', u'chapter': u'', u'articleids': [{u'value': u'17903303', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1471-2350-8-S1-S4', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1186/1471-2350-8-S1-S4', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1995605', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17903303', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17903303', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1995605;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'8 Suppl 1'}", "phenotypes": [{"body_part": "heart", "fun": false, "description": "Coronary artery calcification", "rsid": "10483853"}, {"body_part": "", "fun": false, "description": "Subclinical atherosclerosis traits (other)", "rsid": "3849150"}, {"body_part": "", "fun": false, "description": "Subclinical atherosclerosis traits (other)", "rsid": "2896103"}, {"body_part": "heart", "fun": false, "description": "Coronary artery calcification", "rsid": "10507130"}, {"body_part": "", "fun": false, "description": "Subclinical atherosclerosis traits (other)", "rsid": "1400544"}, {"body_part": "", "fun": false, "description": "Subclinical atherosclerosis traits (other)", "rsid": "7715811"}, {"body_part": "", "fun": false, "description": "Subclinical atherosclerosis traits (other)", "rsid": "1320267"}, {"body_part": "", "fun": false, "description": "Subclinical atherosclerosis traits (other)", "rsid": "1502050"}, {"body_part": "heart", "fun": false, "description": "Coronary artery calcification", "rsid": "2390582"}, {"body_part": "", "fun": false, "description": "Subclinical atherosclerosis traits (other)", "rsid": "1350445"}, {"body_part": "", "fun": false, "description": "Subclinical atherosclerosis traits (other)", "rsid": "1376877"}], "chrom": "1", "pos": 90943907, "personal": false}, {"title": "Framingham Heart Study genome-wide association: results for pulmonary function measures.", "authors": "Wilk JB", "abstract": "Pulmonary function measures obtained by spirometry\n are used to diagnose chronic obstructive pulmonary disease (COPD) and are\n highly heritable. We conducted genome-wide association (GWA) analyses\n (Affymetrix 100K SNP GeneChip) for measures of lung function in the\n Framingham Heart Study. METHODS: Ten spirometry phenotypes including percent\n of predicted measures, mean spirometry measures over two examinations, and\n rates of change based on forced expiratory volume in one second (FEV1),\n forced vital capacity (FVC), forced expiratory flow from the 25th to 75th\n percentile (FEF25-75), the FEV1/FVC ratio, and the FEF25-75/FVC ratio were\n examined. Percent predicted phenotypes were created using each participant's\n latest exam with spirometry. Predicted lung function was estimated using\n models defined in the set of healthy never-smokers, and standardized\n residuals of percent predicted measures were created adjusting for smoking\n status, pack-years, and body mass index (BMI). All modeling was performed\n stratified by sex and cohort. Mean spirometry phenotypes were created using\n data from two examinations and adjusting for age, BMI, height, smoking and\n pack-years. Change in pulmonary function over time was studied using two to\n four examinations with spirometry to calculate slopes, which were then\n adjusted for age, height, smoking and pack-years. RESULTS: Analyses were\n restricted to 70,987 autosomal SNPs with minor allele frequency > or = 10%,\n genotype call rate > or = 80%, and Hardy-Weinberg equilibrium p-value > or =\n 0.001. A SNP in the interleukin 6 receptor (IL6R) on chromosome 1 was among\n the best results for percent predicted FEF25-75. A non-synonymous coding SNP\n in glutathione S-transferase omega 2 (GSTO2) on chromosome 10 had top-ranked\n results studying the mean FEV1 and FVC measurements from two examinations.\n SNPs nearby the SOD3 and vitamin D binding protein genes, candidate genes for\n COPD, exhibited association to percent predicted phenotypes. CONCLUSION:\n GSTO2 and IL6R are credible candidate genes for association to pulmonary\n function identified by GWA. These and other observed associations warrant\n replication studies. This resource of GWA results for pulmonary function\n measures is publicly available at\n http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007\n webcite.", "journal": {"name": "BMC Med Genet", "impact_factor": 0.0}, "refcount": 36, "pubmed_id": "17903307", "published_on": "2007-09-19", "metadata": "{u'essn': u'1471-2350', u'pages': u'S8', u'locationlabel': u'', u'pubdate': u'2007 Sep 19', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'', u'booktitle': u'', u'epubdate': u'2007 Sep 19', u'sorttitle': u'framingham heart study genome wide association results for pulmonary function measures', u'lastauthor': u\"O'Connor GT\", u'title': u'Framingham Heart Study genome-wide association: results for pulmonary function measures.', u'fulljournalname': u'BMC medical genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Wilk JB', u'sortpubdate': u'2007/09/19 00:00', u'uid': u'17903307', u'pmcrefcount': 36, u'pubstatus': u'3', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/10/16 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/11/08 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/10/16 09:00'}], u'issn': u'', u'nlmuniqueid': u'100968552', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Wilk JB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Walter RE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Laramie JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gottlieb DJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"O'Connor GT\", u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'BMC Med Genet', u'chapter': u'', u'articleids': [{u'value': u'17903307', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1471-2350-8-S1-S8', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1186/1471-2350-8-S1-S8', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1995616', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17903307', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17903307', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1995616;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'8 Suppl 1'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Mean forced vital capacity from 2 exams", "rsid": "441051"}, {"body_part": "", "fun": false, "description": "Pulmonary function", "rsid": "3867498"}, {"body_part": "", "fun": false, "description": "Pulmonary function", "rsid": "2838815"}, {"body_part": "", "fun": false, "description": "Pulmonary function", "rsid": "1455782"}, {"body_part": "", "fun": false, "description": "Pulmonary function", "rsid": "310558"}, {"body_part": "", "fun": false, "description": "Pulmonary function", "rsid": "3820928"}, {"body_part": "", "fun": false, "description": "Pulmonary function", "rsid": "730532"}, {"body_part": "", "fun": false, "description": "Pulmonary function", "rsid": "808225"}, {"body_part": "", "fun": false, "description": "Pulmonary function", "rsid": "4129267"}, {"body_part": "", "fun": false, "description": "Pulmonary function", "rsid": "357394"}, {"body_part": "", "fun": false, "description": "Mean forced vital capacity from 2 exams", "rsid": "10516541"}, {"body_part": "", "fun": false, "description": "Pulmonary function", "rsid": "2906966"}], "chrom": "7", "pos": 94054000, "personal": false}, {"title": "Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.", "authors": "Seshadri S", "abstract": "Brain magnetic resonance imaging (MRI) and cognitive\n tests can identify heritable endophenotypes associated with an increased risk\n of developing stroke, dementia and Alzheimer's disease (AD). We conducted a\n genome-wide association (GWA) and linkage analysis exploring the genetic\n basis of these endophenotypes in a community-based sample. METHODS: A total\n of 705 stroke- and dementia-free Framingham participants (age 62 +9 yrs, 50%\n male) who underwent volumetric brain MRI and cognitive testing (1999-2002)\n were genotyped. We used linear models adjusting for first degree\n relationships via generalized estimating equations (GEE) and family based\n association tests (FBAT) in additive models to relate qualifying single\n nucleotide polymorphisms (SNPs, 70,987 autosomal on Affymetrix 100K Human\n Gene Chip with minor allele frequency > or = 0.10, genotypic call rate > or =\n 0.80, and Hardy-Weinberg equilibrium p-value > or = 0.001) to\n multivariable-adjusted residuals of 9 MRI measures including total cerebral\n brain (TCBV), lobar, ventricular and white matter hyperintensity (WMH)\n volumes, and 6 cognitive factors/tests assessing verbal and visuospatial\n memory, visual scanning and motor speed, reading, abstract reasoning and\n naming. We determined multipoint identity-by-descent utilizing 10,592\n informative SNPs and 613 short tandem repeats and used variance component\n analyses to compute LOD scores. RESULTS: The strongest gene-phenotype\n association in FBAT analyses was between SORL1 (rs1131497; p = 3.2 x 10(-6))\n and abstract reasoning, and in GEE analyses between CDH4 (rs1970546; p = 3.7\n x 10(-8)) and TCBV. SORL1 plays a role in amyloid precursor protein\n processing and has been associated with the risk of AD. Among the 50\n strongest associations (25 each by GEE and FBAT) were other biologically\n interesting genes. Polymorphisms within 28 of 163 candidate genes for stroke,\n AD and memory impairment were associated with the endophenotypes studied at p\n < 0.001. We confirmed our previously reported linkage of WMH on chromosome 4\n and describe linkage of reading performance to a marker on chromosome 18\n (GATA11A06), previously linked to dyslexia (LOD scores = 2.2 and 5.1).\n CONCLUSION: Our results suggest that genes associated with clinical\n neurological disease also have detectable effects on subclinical phenotypes.\n These hypothesis generating data illustrate the use of an unbiased approach\n to discover novel pathways that may be involved in brain aging, and could be\n used to replicate observations made in other studies.", "journal": {"name": "BMC Med Genet", "impact_factor": 0.0}, "refcount": 85, "pubmed_id": "17903297", "published_on": "2007-09-19", "metadata": "{u'essn': u'1471-2350', u'pages': u'S15', u'locationlabel': u'', u'pubdate': u'2007 Sep 19', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'', u'booktitle': u'', u'epubdate': u'2007 Sep 19', u'sorttitle': u'genetic correlates of brain aging on mri and cognitive test measures a genome wide association and linkage analysis in the framingham study', u'lastauthor': u'Wolf PA', u'title': u'Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.', u'fulljournalname': u'BMC medical genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Seshadri S', u'sortpubdate': u'2007/09/19 00:00', u'uid': u'17903297', u'pmcrefcount': 85, u'pubstatus': u'3', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/10/16 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/11/08 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/10/16 09:00'}], u'issn': u'', u'nlmuniqueid': u'100968552', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Seshadri S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'DeStefano AL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Au R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Massaro JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Beiser AS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kelly-Hayes M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kase CS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"D'Agostino RB Sr\", u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Decarli C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Atwood LD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wolf PA', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'BMC Med Genet', u'chapter': u'', u'articleids': [{u'value': u'17903297', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1471-2350-8-S1-S15', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1186/1471-2350-8-S1-S15', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1995608', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17903297', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17903297', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1995608;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'8 Suppl 1'}", "phenotypes": [{"body_part": "behavior", "fun": false, "description": "Cognitive test performance", "rsid": "2179965"}, {"body_part": "behavior", "fun": false, "description": "Cognitive test performance", "rsid": "1155865"}, {"body_part": "behavior", "fun": false, "description": "Cognitive test performance", "rsid": "2832077"}, {"body_part": "behavior", "fun": false, "description": "Cognitive test performance", "rsid": "2352904"}, {"body_part": "brain", "fun": false, "description": "Volumetric brain MRI", "rsid": "1970546"}, {"body_part": "behavior", "fun": false, "description": "Cognitive test performance", "rsid": "6914079"}, {"body_part": "behavior", "fun": false, "description": "Cognitive test performance", "rsid": "9325032"}, {"body_part": "behavior", "fun": false, "description": "Cognitive test performance", "rsid": "3891355"}, {"body_part": "behavior", "fun": false, "description": "Cognitive test performance", "rsid": "9303401"}, {"body_part": "behavior", "fun": false, "description": "Cognitive test performance", "rsid": "10489896"}, {"body_part": "behavior", "fun": false, "description": "Cognitive test performance", "rsid": "9300212"}, {"body_part": "behavior", "fun": false, "description": "Cognitive test performance", "rsid": "1831521"}, {"body_part": "brain", "fun": false, "description": "Volumetric brain MRI", "rsid": "5028798"}, {"body_part": "brain", "fun": false, "description": "Volumetric brain MRI", "rsid": "952700"}, {"body_part": "brain", "fun": false, "description": "Volumetric brain MRI", "rsid": "360929"}, {"body_part": "behavior", "fun": false, "description": "Cognitive test performance", "rsid": "530965"}, {"body_part": "behavior", "fun": false, "description": "Cognitive test performance", "rsid": "1031381"}, {"body_part": "behavior", "fun": false, "description": "Cognitive test performance", "rsid": "934299"}, {"body_part": "brain", "fun": false, "description": "Volumetric brain MRI", "rsid": "2847476"}], "chrom": "1", "pos": 88802012, "personal": false}, {"title": "Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.", "authors": "Lunetta KL", "abstract": "Family studies and heritability estimates provide\n evidence for a genetic contribution to variation in the human life span.\n METHODS: We conducted a genome wide association study (Affymetrix 100K SNP\n GeneChip) for longevity-related traits in a community-based sample. We report\n on 5 longevity and aging traits in up to 1345 Framingham Study participants\n from 330 families. Multivariable-adjusted residuals were computed using\n appropriate models (Cox proportional hazards, logistic, or linear regression)\n and the residuals from these models were used to test for association with\n qualifying SNPs (70, 987 autosomal SNPs with genotypic call rate > or =80%,\n minor allele frequency > or =10%, Hardy-Weinberg test p > or = 0.001).\n RESULTS: In family-based association test (FBAT) models, 8 SNPs in two\n regions approximately 500 kb apart on chromosome 1 (physical positions\n 73,091,610 and 73, 527,652) were associated with age at death (p-value <\n 10(-5)). The two sets of SNPs were in high linkage disequilibrium (minimum r2\n = 0.58). The top 30 SNPs for generalized estimating equation (GEE) tests of\n association with age at death included rs10507486 (p = 0.0001) and rs4943794\n (p = 0.0002), SNPs intronic to FOXO1A, a gene implicated in lifespan\n extension in animal models. FBAT models identified 7 SNPs and GEE models\n identified 9 SNPs associated with both age at death and morbidity-free\n survival at age 65 including rs2374983 near PON1. In the analysis of selected\n candidate genes, SNP associations (FBAT or GEE p-value < 0.01) were\n identified for age at death in or near the following genes: FOXO1A, GAPDH,\n KL, LEPR, PON1, PSEN1, SOD2, and WRN. Top ranked SNP associations in the GEE\n model for age at natural menopause included rs6910534 (p = 0.00003) near\n FOXO3a and rs3751591 (p = 0.00006) in CYP19A1. Results of all longevity\n phenotype-genotype associations for all autosomal SNPs are web posted at\n http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007\n webcite. CONCLUSION: Longevity and aging traits are associated with SNPs on\n the Affymetrix 100K GeneChip. None of the associations achieved genome-wide\n significance. These data generate hypotheses and serve as a resource for\n replication as more genes and biologic pathways are proposed as contributing\n to longevity and healthy aging.", "journal": {"name": "BMC Med Genet", "impact_factor": 0.0}, "refcount": 77, "pubmed_id": "17903295", "published_on": "2007-09-19", "metadata": "{u'essn': u'1471-2350', u'pages': u'S13', u'locationlabel': u'', u'pubdate': u'2007 Sep 19', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'', u'booktitle': u'', u'epubdate': u'2007 Sep 19', u'sorttitle': u'genetic correlates of longevity and selected age related phenotypes a genome wide association study in the framingham study', u'lastauthor': u'Murabito JM', u'title': u'Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.', u'fulljournalname': u'BMC medical genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Lunetta KL', u'sortpubdate': u'2007/09/19 00:00', u'uid': u'17903295', u'pmcrefcount': 77, u'pubstatus': u'3', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/10/16 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/11/08 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/10/16 09:00'}], u'issn': u'', u'nlmuniqueid': u'100968552', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Lunetta KL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"D'Agostino RB Sr\", u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Karasik D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Benjamin EJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Guo CY', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Govindaraju R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kiel DP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kelly-Hayes M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Massaro JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pencina MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Seshadri S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Murabito JM', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'BMC Med Genet', u'chapter': u'', u'articleids': [{u'value': u'17903295', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1471-2350-8-S1-S13', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1186/1471-2350-8-S1-S13', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1995604', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17903295', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17903295', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1995604;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'8 Suppl 1'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Aging traits", "rsid": "10496265"}, {"body_part": "", "fun": false, "description": "Aging traits", "rsid": "1463605"}, {"body_part": "", "fun": false, "description": "Aging traits", "rsid": "1528753"}, {"body_part": "", "fun": false, "description": "Morbidity-free survival", "rsid": "1412337"}, {"body_part": "", "fun": false, "description": "Morbidity-free survival", "rsid": "32566"}, {"body_part": "", "fun": false, "description": "Morbidity-free survival", "rsid": "10484246"}, {"body_part": "", "fun": false, "description": "Aging traits", "rsid": "2371208"}, {"body_part": "", "fun": false, "description": "Aging traits", "rsid": "10496262"}, {"body_part": "", "fun": false, "description": "Aging traits", "rsid": "958672"}, {"body_part": "", "fun": false, "description": "Aging traits", "rsid": "291353"}, {"body_part": "", "fun": false, "description": "Aging traits", "rsid": "3772255"}, {"body_part": "", "fun": false, "description": "Morbidity-free survival", "rsid": "4831837"}, {"body_part": "", "fun": false, "description": "Morbidity-free survival", "rsid": "2639889"}, {"body_part": "", "fun": false, "description": "Aging traits", "rsid": "7176093"}, {"body_part": "", "fun": false, "description": "Aging traits", "rsid": "7137869"}], "chrom": "1", "pos": 168618641, "personal": false}, {"title": "Genome-wide association with bone mass and geometry in the Framingham Heart Study.", "authors": "Kiel DP", "abstract": "Osteoporosis is characterized by low bone mass and\n compromised bone structure, heritable traits that contribute to fracture\n risk. There have been no genome-wide association and linkage studies for\n these traits using high-density genotyping platforms. METHODS: We used the\n Affymetrix 100K SNP GeneChip marker set in the Framingham Heart Study (FHS)\n to examine genetic associations with ten primary quantitative traits: bone\n mineral density (BMD), calcaneal ultrasound, and geometric indices of the\n hip. To test associations with multivariable-adjusted residual trait values,\n we used additive generalized estimating equation (GEE) and family-based\n association tests (FBAT) models within each sex as well as sexes combined. We\n evaluated 70,987 autosomal SNPs with genotypic call rates > or =80%, HWE p >\n or = 0.001, and MAF > or =10% in up to 1141 phenotyped individuals (495 men\n and 646 women, mean age 62.5 yrs). Variance component linkage analysis was\n performed using 11,200 markers. RESULTS: Heritability estimates for all bone\n phenotypes were 30-66%. LOD scores > or =3.0 were found on chromosomes 15\n (1.5 LOD confidence interval: 51,336,679-58,934,236 bp) and 22\n (35,890,398-48,603,847 bp) for femoral shaft section modulus. The ten primary\n phenotypes had 12 associations with 100K SNPs in GEE models at p < 0.000001\n and 2 associations in FBAT models at p < 0.000001. The 25 most significant\n p-values for GEE and FBAT were all less than 3.5 x 10(-6) and 2.5 x 10(-5),\n respectively. Of the 40 top SNPs with the greatest numbers of significantly\n associated BMD traits (including femoral neck, trochanter, and lumbar spine),\n one half to two-thirds were in or near genes that have not previously been\n studied for osteoporosis. Notably, pleiotropic associations between BMD and\n bone geometric traits were uncommon. Evidence for association (FBAT or GEE p\n < 0.05) was observed for several SNPs in candidate genes for osteoporosis,\n such as rs1801133 in MTHFR; rs1884052 and rs3778099 in ESR1; rs4988300 in\n LRP5; rs2189480 in VDR; rs2075555 in COLIA1; rs10519297 and rs2008691 in\n CYP19, as well as SNPs in PPARG (rs10510418 and rs2938392) and ANKH\n (rs2454873 and rs379016). All GEE, FBAT and linkage results are provided as\n an open-access results resource at\n http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007\n webcite. CONCLUSION: The FHS 100K SNP project offers an unbiased genome-wide\n strategy to identify new candidate loci and to replicate previously suggested\n candidate genes for osteoporosis.", "journal": {"name": "BMC Med Genet", "impact_factor": 0.0}, "refcount": 81, "pubmed_id": "17903296", "published_on": "2007-09-19", "metadata": "{u'essn': u'1471-2350', u'pages': u'S14', u'locationlabel': u'', u'pubdate': u'2007 Sep 19', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'', u'booktitle': u'', u'epubdate': u'2007 Sep 19', u'sorttitle': u'genome wide association with bone mass and geometry in the framingham heart study', u'lastauthor': u'Karasik D', u'title': u'Genome-wide association with bone mass and geometry in the Framingham Heart Study.', u'fulljournalname': u'BMC medical genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Kiel DP', u'sortpubdate': u'2007/09/19 00:00', u'uid': u'17903296', u'pmcrefcount': 81, u'pubstatus': u'3', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/10/16 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/11/08 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/10/16 09:00'}], u'issn': u'', u'nlmuniqueid': u'100968552', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Kiel DP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Demissie S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dupuis J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lunetta KL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Murabito JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Karasik D', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'BMC Med Genet', u'chapter': u'', u'articleids': [{u'value': u'17903296', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1471-2350-8-S1-S14', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1186/1471-2350-8-S1-S14', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1995606', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17903296', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17903296', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1995606;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'8 Suppl 1'}", "phenotypes": [{"body_part": "bone", "fun": false, "description": "Bone mineral density", "rsid": "9317284"}, {"body_part": "", "fun": false, "description": "Hip geometry", "rsid": "10514345"}, {"body_part": "", "fun": false, "description": "Hip geometry", "rsid": "10506821"}, {"body_part": "", "fun": false, "description": "Hip geometry", "rsid": "10503887"}, {"body_part": "", "fun": false, "description": "Hip geometry", "rsid": "2548003"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density", "rsid": "10506701"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density", "rsid": "10510628"}, {"body_part": "", "fun": false, "description": "Hip geometry", "rsid": "2054989"}, {"body_part": "", "fun": false, "description": "Hip geometry", "rsid": "4715166"}, {"body_part": "", "fun": false, "description": "Hip geometry", "rsid": "2053506"}, {"body_part": "", "fun": false, "description": "Hip geometry", "rsid": "6600671"}, {"body_part": "", "fun": false, "description": "Hip geometry", "rsid": "10515148"}, {"body_part": "", "fun": false, "description": "Hip geometry", "rsid": "638882"}, {"body_part": "", "fun": false, "description": "Hip geometry", "rsid": "1590305"}, {"body_part": "", "fun": false, "description": "Hip geometry", "rsid": "991258"}, {"body_part": "", "fun": false, "description": "Hip geometry", "rsid": "922948"}, {"body_part": "", "fun": false, "description": "Hip geometry", "rsid": "1452928"}, {"body_part": "", "fun": false, "description": "Hip geometry", "rsid": "10492096"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density", "rsid": "9291683"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density", "rsid": "2214681"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density", "rsid": "4087296"}, {"body_part": "", "fun": false, "description": "Hip geometry", "rsid": "4131805"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density", "rsid": "2165468"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density", "rsid": "4811196"}], "chrom": "13", "pos": 63634350, "personal": false}, {"title": "Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study.", "authors": "Newton-Cheh C", "abstract": "Heritable electrocardiographic (ECG) and heart rate\n variability (HRV) measures, reflecting pacemaking, conduction, repolarization\n and autonomic function in the heart have been associated with risks for\n cardiac arrhythmias. Whereas several rare monogenic conditions with extreme\n phenotypes have been noted, few common genetic factors contributing to\n interindividual variability in ECG and HRV measures have been identified. We\n report the results of a community-based genomewide association study of six\n ECG and HRV intermediate traits. METHODS: Genotyping using Affymetrix 100K\n GeneChip was conducted on 1345 related Framingham Heart Study Original and\n Offspring cohort participants. We analyzed 1175 Original and Offspring\n participants with ECG data (mean age 52 years, 52% women) and 548 Offspring\n participants with HRV data (mean age 48 years, 51% women), in relation to\n 70,987 SNPs with minor allele frequency > or = 0.10, call rate > or = 80%,\n Hardy-Weinberg p-value > or = 0.001. We used generalized estimating equations\n to test association of SNP alleles with multivariable-adjusted residuals for\n QT, RR, and PR intervals, the ratio of low frequency to high frequency power\n (LF/HFP), total power (TP) and the standard deviation of normal RR intervals\n (SDNN). RESULTS: Associations at p < 10(-3) were found for 117 (QT), 105\n (RR), 111 (PR), 102 (LF/HF), 121 (TP), and 102 (SDNN) SNPs. Several common\n variants in NOS1AP (4 SNPs with p-values < 10(-3); lowest p-value, rs6683968,\n p = 1 x 10(-4)) were associated with adjusted QT residuals, consistent with\n our previously reported finding for NOS1AP in an unrelated sample of FHS\n Offspring and other cohorts. All results are publicly available at NCBI's\n dbGaP at\n http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007\n webcite. CONCLUSION: In the community-based Framingham Heart Study none of\n the ECG and HRV results individually attained genomewide significance.\n However, the presence of bona fide QT-associated SNPs among the top 117\n results for QT duration supports the importance of efforts to validate top\n results from the reported scans. Finding genetic variants associated with ECG\n and HRV quantitative traits may identify novel genes and pathways implicated\n in arrhythmogenesis and allow for improved recognition of individuals at high\n risk for arrhythmias in the general population.", "journal": {"name": "BMC Med Genet", "impact_factor": 0.0}, "refcount": 34, "pubmed_id": "17903306", "published_on": "2007-09-19", "metadata": "{u'essn': u'1471-2350', u'pages': u'S7', u'locationlabel': u'', u'pubdate': u'2007 Sep 19', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'', u'booktitle': u'', u'epubdate': u'2007 Sep 19', u'sorttitle': u'genome wide association study of electrocardiographic and heart rate variability traits the framingham heart study', u'lastauthor': u'Larson MG', u'title': u'Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study.', u'fulljournalname': u'BMC medical genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Newton-Cheh C', u'sortpubdate': u'2007/09/19 00:00', u'uid': u'17903306', u'pmcrefcount': 34, u'pubstatus': u'3', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/10/16 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/11/08 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/10/16 09:00'}], u'issn': u'', u'nlmuniqueid': u'100968552', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Newton-Cheh C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Guo CY', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wang TJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"O'donnell CJ\", u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Levy D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Larson MG', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'BMC Med Genet', u'chapter': u'', u'articleids': [{u'value': u'17903306', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1471-2350-8-S1-S7', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1186/1471-2350-8-S1-S7', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1995612', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17903306', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17903306', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1995612;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'8 Suppl 1'}", "phenotypes": [{"body_part": "heart", "fun": false, "description": "Electrocardiographic traits", "rsid": "10507380"}, {"body_part": "heart", "fun": false, "description": "Electrocardiographic traits", "rsid": "882300"}, {"body_part": "heart", "fun": false, "description": "Heart rate variability traits", "rsid": "1395479"}, {"body_part": "heart", "fun": false, "description": "Heart rate variability traits", "rsid": "9315385"}], "chrom": "13", "pos": 27879526, "personal": false}, {"title": "Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.", "authors": "Fox CS", "abstract": "Obesity is related to multiple cardiovascular\n disease (CVD) risk factors as well as CVD and has a strong familial\n component. We tested for association between SNPs on the Affymetrix 100K SNP\n GeneChip and measures of adiposity in the Framingham Heart Study. METHODS: A\n total of 1341 Framingham Heart Study participants in 310 families genotyped\n with the Affymetrix 100K SNP GeneChip had adiposity traits measured over 30\n years of follow up. Body mass index (BMI), waist circumference (WC), weight\n change, height, and radiographic measures of adiposity (subcutaneous adipose\n tissue, visceral adipose tissue, waist circumference, sagittal height) were\n measured at multiple examination cycles. Multivariable-adjusted residuals,\n adjusting for age, age-squared, sex, smoking, and menopausal status, were\n evaluated in association with the genotype data using additive Generalized\n Estimating Equations (GEE) and Family Based Association Test (FBAT) models.\n We prioritized mean BMI over offspring examinations (1-7) and cohort\n examinations (10, 16, 18, 20, 22, 24, 26) and mean WC over offspring\n examinations (4-7) for presentation. We evaluated associations with 70,987\n SNPs on autosomes with minor allele frequencies of at least 0.10,\n Hardy-Weinberg equilibrium p > or = 0.001, and call rates of at least 80%.\n RESULTS: The top SNPs to be associated with mean BMI and mean WC by GEE were\n rs110683 (p-value 1.22*10(-7)) and rs4471028 (p-values 1.96*10(-7)). Please\n see http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007\n webcite for the complete set of results. We were able to validate SNPs in\n known genes that have been related to BMI or other adiposity traits,\n including the ESR1 Xba1 SNP, PPARG, and ADIPOQ. CONCLUSION: Adiposity traits\n are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of\n these initial findings is necessary. These data will serve as a resource for\n replication as more genes become identified with BMI and WC.", "journal": {"name": "BMC Med Genet", "impact_factor": 0.0}, "refcount": 53, "pubmed_id": "17903300", "published_on": "2007-09-19", "metadata": "{u'essn': u'1471-2350', u'pages': u'S18', u'locationlabel': u'', u'pubdate': u'2007 Sep 19', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'', u'booktitle': u'', u'epubdate': u'2007 Sep 19', u'sorttitle': u'genome wide association to body mass index and waist circumference the framingham heart study 100k project', u'lastauthor': u'Atwood LD', u'title': u'Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.', u'fulljournalname': u'BMC medical genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Fox CS', u'sortpubdate': u'2007/09/19 00:00', u'uid': u'17903300', u'pmcrefcount': 53, u'pubstatus': u'3', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/10/16 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/11/08 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/10/16 09:00'}], u'issn': u'', u'nlmuniqueid': u'100968552', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Fox CS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heard-Costa N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cupples LA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dupuis J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vasan RS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Atwood LD', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'BMC Med Genet', u'chapter': u'', u'articleids': [{u'value': u'17903300', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1471-2350-8-S1-S18', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1186/1471-2350-8-S1-S18', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1995618', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17903300', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17903300', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1995618;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'8 Suppl 1'}", "phenotypes": [{"body_part": "weight", "fun": true, "description": "Body mass index", "rsid": "1106683"}, {"body_part": "weight", "fun": true, "description": "Body mass index", "rsid": "1106684"}, {"body_part": "weight", "fun": true, "description": "Body mass index", "rsid": "1333026"}, {"body_part": "weight", "fun": false, "description": "Waist circumference", "rsid": "4471028"}, {"body_part": "weight", "fun": false, "description": "Waist circumference", "rsid": "1875517"}], "chrom": "7", "pos": 131453525, "personal": false}, {"title": "Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.", "authors": "Levy D", "abstract": "About one quarter of adults are hypertensive and\n high blood pressure carries increased risk for heart disease, stroke, kidney\n disease and death. Increased arterial stiffness is a key factor in the\n pathogenesis of systolic hypertension and cardiovascular disease. Substantial\n heritability of blood-pressure (BP) and arterial-stiffness suggests important\n genetic contributions. METHODS: In Framingham Heart Study families, we\n analyzed genome-wide SNP (Affymetrix 100K GeneChip) associations with\n systolic (SBP) and diastolic (DBP) BP at a single examination in 1971-1975 (n\n = 1260), at a recent examination in 1998-2001 (n = 1233), and long-term\n averaged SBP and DBP from 1971-2001 (n = 1327, mean age 52 years, 54% women)\n and with arterial stiffness measured by arterial tonometry (carotid-femoral\n and carotid-brachial pulse wave velocity, forward and reflected pressure wave\n amplitude, and mean arterial pressure; 1998-2001, n = 644). In primary\n analyses we used generalized estimating equations in models for an additive\n genetic effect to test associations between SNPs and phenotypes of interest\n using multivariable-adjusted residuals. A total of 70,987 autosomal SNPs with\n minor allele frequency > or = 0.10, genotype call rate > or = 0.80, and\n Hardy-Weinberg equilibrium p > or = 0.001 were analyzed. We also tested for\n association of 69 SNPs in six renin-angiotensin-aldosterone pathway genes\n with BP and arterial stiffness phenotypes as part of a candidate gene search.\n RESULTS: In the primary analyses, none of the associations attained\n genome-wide significance. For the six BP phenotypes, seven SNPs yielded p\n values < 10(-5). The lowest p-values for SBP and DBP respectively were\n rs10493340 (p = 1.7 x 10(-6)) and rs1963982 (p = 3.3 x 10(-6)). For the five\n tonometry phenotypes, five SNPs had p values < 10(-5); lowest p-values were\n for reflected wave (rs6063312, p = 2.1 x 10(-6)) and carotid-brachial pulse\n wave velocity (rs770189, p = 2.5 x 10(-6)) in MEF2C, a regulator of cardiac\n morphogenesis. We found only weak association of SNPs in the\n renin-angiotensin-aldosterone pathway with BP or arterial stiffness.\n CONCLUSION: These results of genome-wide association testing for blood\n pressure and arterial stiffness phenotypes in an unselected community-based\n sample of adults may aid in the identification of the genetic basis of\n hypertension and arterial disease, help identify high risk individuals, and\n guide novel therapies for hypertension. Additional studies are needed to\n replicate any associations identified in these analyses.", "journal": {"name": "BMC Med Genet", "impact_factor": 0.0}, "refcount": 86, "pubmed_id": "17903302", "published_on": "2007-09-19", "metadata": "{u'essn': u'1471-2350', u'pages': u'S3', u'locationlabel': u'', u'pubdate': u'2007 Sep 19', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'', u'booktitle': u'', u'epubdate': u'2007 Sep 19', u'sorttitle': u'framingham heart study 100k project genome wide associations for blood pressure and arterial stiffness', u'lastauthor': u'Mitchell GF', u'title': u'Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.', u'fulljournalname': u'BMC medical genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Levy D', u'sortpubdate': u'2007/09/19 00:00', u'uid': u'17903302', u'pmcrefcount': 86, u'pubstatus': u'3', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/10/16 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/11/08 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/10/16 09:00'}], u'issn': u'', u'nlmuniqueid': u'100968552', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Levy D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Larson MG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Benjamin EJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Newton-Cheh C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wang TJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hwang SJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vasan RS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mitchell GF', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'BMC Med Genet', u'chapter': u'', u'articleids': [{u'value': u'17903302', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1471-2350-8-S1-S3', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1186/1471-2350-8-S1-S3', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1995621', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17903302', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17903302', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1995621;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'8 Suppl 1'}", "phenotypes": [{"body_part": "brain", "fun": false, "description": "Blood pressure", "rsid": "1963982"}, {"body_part": "brain", "fun": false, "description": "Blood pressure", "rsid": "935334"}, {"body_part": "", "fun": false, "description": "Tonometry", "rsid": "6063312"}, {"body_part": "", "fun": false, "description": "Tonometry", "rsid": "10514688"}, {"body_part": "", "fun": false, "description": "Tonometry", "rsid": "7042864"}, {"body_part": "", "fun": false, "description": "Tonometry", "rsid": "1322512"}, {"body_part": "", "fun": false, "description": "Tonometry", "rsid": "3773643"}, {"body_part": "", "fun": false, "description": "Tonometry", "rsid": "3793427"}, {"body_part": "", "fun": false, "description": "Tonometry", "rsid": "1116260"}, {"body_part": "", "fun": false, "description": "Tonometry", "rsid": "1367248"}, {"body_part": "", "fun": false, "description": "Tonometry", "rsid": "3766680"}, {"body_part": "", "fun": false, "description": "Tonometry", "rsid": "1371924"}, {"body_part": "", "fun": false, "description": "Tonometry", "rsid": "10488172"}, {"body_part": "brain", "fun": false, "description": "Blood pressure", "rsid": "4370013"}, {"body_part": "brain", "fun": false, "description": "Blood pressure", "rsid": "10491334"}, {"body_part": "brain", "fun": false, "description": "Blood pressure", "rsid": "2121070"}, {"body_part": "brain", "fun": false, "description": "Blood pressure", "rsid": "2509458"}, {"body_part": "brain", "fun": false, "description": "Blood pressure", "rsid": "3096277"}, {"body_part": "", "fun": false, "description": "Tonometry", "rsid": "770189"}, {"body_part": "brain", "fun": false, "description": "Blood pressure", "rsid": "7591163"}, {"body_part": "", "fun": false, "description": "Tonometry", "rsid": "10521232"}, {"body_part": "brain", "fun": false, "description": "Blood pressure", "rsid": "10493340"}], "chrom": "1", "pos": 63591129, "personal": false}, {"title": "Genome-wide association with diabetes-related traits in the Framingham Heart Study.", "authors": "Meigs JB", "abstract": "Susceptibility to type 2 diabetes may be conferred\n by genetic variants having modest effects on risk. Genome-wide fixed marker\n arrays offer a novel approach to detect these variants. METHODS: We used the\n Affymetrix 100K SNP array in 1,087 Framingham Offspring Study family members\n to examine genetic associations with three diabetes-related quantitative\n glucose traits (fasting plasma glucose (FPG), hemoglobin A1c, 28-yr\n time-averaged FPG (tFPG)), three insulin traits (fasting insulin,\n HOMA-insulin resistance, and 0-120 min insulin sensitivity index); and with\n risk for diabetes. We used additive generalized estimating equations (GEE)\n and family-based association test (FBAT) models to test associations of SNP\n genotypes with sex-age-age2-adjusted residual trait values, and Cox survival\n models to test incident diabetes. RESULTS: We found 415 SNPs associated (at p\n < 0.001) with at least one of the six quantitative traits in GEE, 242 in FBAT\n (18 overlapped with GEE for 639 non-overlapping SNPs), and 128 associated\n with incident diabetes (31 overlapped with the 639) giving 736\n non-overlapping SNPs. Of these 736 SNPs, 439 were within 60 kb of a known\n gene. Additionally, 53 SNPs (of which 42 had r2 < 0.80 with each other) had p\n < 0.01 for incident diabetes AND (all 3 glucose traits OR all 3 insulin\n traits, OR 2 glucose traits and 2 insulin traits); of these, 36 overlapped\n with the 736 other SNPs. Of 100K SNPs, one (rs7100927) was in moderate LD (r2\n = 0.50) with TCF7L2 (rs7903146), and was associated with risk of diabetes\n (Cox p-value 0.007, additive hazard ratio for diabetes = 1.56) and with tFPG\n (GEE p-value 0.03). There were no common (MAF > 1%) 100K SNPs in LD (r2 >\n 0.05) with ABCC8 A1369S (rs757110), KCNJ11 E23K (rs5219), or SNPs in CAPN10\n or HNFa. PPARG P12A (rs1801282) was not significantly associated with\n diabetes or related traits. CONCLUSION: Framingham 100K SNP data is a\n resource for association tests of known and novel genes with diabetes and\n related traits posted at\n http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007\n webcite. Framingham 100K data replicate the TCF7L2 association with diabetes.", "journal": {"name": "BMC Med Genet", "impact_factor": 0.0}, "refcount": 37, "pubmed_id": "17903298", "published_on": "2007-09-19", "metadata": "{u'essn': u'1471-2350', u'pages': u'S16', u'locationlabel': u'', u'pubdate': u'2007 Sep 19', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'', u'booktitle': u'', u'epubdate': u'2007 Sep 19', u'sorttitle': u'genome wide association with diabetes related traits in the framingham heart study', u'lastauthor': u'Dupuis J', u'title': u'Genome-wide association with diabetes-related traits in the Framingham Heart Study.', u'fulljournalname': u'BMC medical genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Meigs JB', u'sortpubdate': u'2007/09/19 00:00', u'uid': u'17903298', u'pmcrefcount': 37, u'pubstatus': u'3', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/10/16 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/11/08 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/10/16 09:00'}], u'issn': u'', u'nlmuniqueid': u'100968552', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Meigs JB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Manning AK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fox CS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Florez JC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Liu C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cupples LA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dupuis J', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'BMC Med Genet', u'chapter': u'', u'articleids': [{u'value': u'17903298', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1471-2350-8-S1-S16', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1186/1471-2350-8-S1-S16', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1995610', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17903298', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17903298', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1995610;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'8 Suppl 1'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Diabetes (incident)", "rsid": "10497721"}, {"body_part": "heart", "fun": false, "description": "Fasting plasma glucose", "rsid": "2722425"}, {"body_part": "heart", "fun": false, "description": "Fasting plasma glucose", "rsid": "10510634"}, {"body_part": "", "fun": false, "description": "Diabetes related insulin traits", "rsid": "10486607"}, {"body_part": "", "fun": false, "description": "Diabetes related insulin traits", "rsid": "2066219"}, {"body_part": "heart", "fun": false, "description": "Fasting plasma glucose", "rsid": "180730"}, {"body_part": "heart", "fun": false, "description": "Fasting plasma glucose", "rsid": "7731657"}, {"body_part": "", "fun": false, "description": "Diabetes related insulin traits", "rsid": "2877832"}], "chrom": "14", "pos": 27800177, "personal": false}, {"title": "A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.", "authors": "Murabito JM", "abstract": "Breast and prostate cancer are two commonly\n diagnosed cancers in the United States. Prior work suggests that cancer\n causing genes and cancer susceptibility genes can be identified. METHODS: We\n conducted a genome-wide association study (Affymetrix 100K SNP GeneChip) of\n cancer in the community-based Framingham Heart Study. We report on 2 cancer\n traits--prostate cancer and breast cancer--in up to 1335 participants from\n 330 families (54% women, mean entry age 33 years). Multivariable-adjusted\n residuals, computed using Cox proportional hazards models, were tested for\n association with qualifying SNPs (70, 987 autosomal SNPs with genotypic call\n rate > or =80%, minor allele frequency > or =10%, Hardy-Weinberg test p > or\n = 0.001) using generalized estimating equations (GEE) models and family based\n association tests (FBAT). RESULTS: There were 58 women with breast cancer and\n 59 men with prostate cancer. No SNP associations attained genome-wide\n significance. The top SNP associations in GEE models for each trait were as\n follows: breast cancer, rs2075555, p = 8.0 x 10(-8) in COL1A1; and prostate\n cancer, rs9311171, p = 1.75 x 10(-6) in CTDSPL. In analysis of selected\n candidate cancer susceptibility genes, two MSR1 SNPs (rs9325782, GEE p =\n 0.008 and rs2410373, FBAT p = 0.021) were associated with prostate cancer and\n three ERBB4 SNPs (rs905883 GEE p = 0.0002, rs7564590 GEE p = 0.003, rs7558615\n GEE p = 0.0078) were associated with breast cancer. The previously reported\n risk SNP for prostate cancer, rs1447295, was not included on the 100K chip.\n Results of cancer phenotype-genotype associations for all autosomal SNPs are\n web posted at\n http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007\n webcite. CONCLUSION: Although no association attained genome-wide\n significance, several interesting associations emerged for breast and\n prostate cancer. These findings can serve as a resource for replication in\n other populations to identify novel biologic pathways contributing to cancer\n susceptibility.", "journal": {"name": "BMC Med Genet", "impact_factor": 0.0}, "refcount": 48, "pubmed_id": "17903305", "published_on": "2007-09-19", "metadata": "{u'essn': u'1471-2350', u'pages': u'S6', u'locationlabel': u'', u'pubdate': u'2007 Sep 19', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'', u'booktitle': u'', u'epubdate': u'2007 Sep 19', u'sorttitle': u'genome wide association study of breast and prostate cancer in the nhlbi s framingham heart study', u'lastauthor': u'Hwang SJ', u'title': u\"A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.\", u'fulljournalname': u'BMC medical genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Murabito JM', u'sortpubdate': u'2007/09/19 00:00', u'uid': u'17903305', u'pmcrefcount': 48, u'pubstatus': u'3', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/10/16 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/11/08 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/10/16 09:00'}], u'issn': u'', u'nlmuniqueid': u'100968552', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Murabito JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rosenberg CL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Finger D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kreger BE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Levy D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Splansky GL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Antman K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hwang SJ', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'BMC Med Genet', u'chapter': u'', u'articleids': [{u'value': u'17903305', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1471-2350-8-S1-S6', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1186/1471-2350-8-S1-S6', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1995609', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17903305', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17903305', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1995609;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'8 Suppl 1'}", "phenotypes": [{"body_part": "breast", "fun": false, "description": "Breast cancer", "rsid": "1978503"}, {"body_part": "breast", "fun": false, "description": "Breast cancer", "rsid": "6556756"}, {"body_part": "breast", "fun": false, "description": "Breast cancer", "rsid": "1154865"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "9311171"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "1529276"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "4466137"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "345013"}, {"body_part": "breast", "fun": false, "description": "Breast cancer", "rsid": "10263639"}, {"body_part": "breast", "fun": false, "description": "Breast cancer", "rsid": "10490113"}, {"body_part": "breast", "fun": false, "description": "Breast cancer", "rsid": "1876206"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "10498792"}, {"body_part": "breast", "fun": false, "description": "Breast cancer", "rsid": "2075555"}, {"body_part": "breast", "fun": false, "description": "Breast cancer", "rsid": "458685"}, {"body_part": "breast", "fun": false, "description": "Breast cancer", "rsid": "1926657"}], "chrom": "17", "pos": 48274291, "personal": true}, {"title": "A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study.", "authors": "Hwang SJ", "abstract": "Glomerular filtration rate (GFR) and urinary albumin\n excretion (UAE) are markers of kidney function that are known to be\n heritable. Many endocrine conditions have strong familial components. We\n tested for association between the Affymetrix GeneChip Human Mapping 100K\n single nucleotide polymorphism (SNP) set and measures of kidney function and\n endocrine traits. METHODS: Genotype information on the Affymetrix GeneChip\n Human Mapping 100K SNP set was available on 1345 participants. Serum\n creatinine and cystatin-C (cysC; n = 981) were measured at the seventh\n examination cycle (1998-2001); GFR (n = 1010) was estimated via the\n Modification of Diet in Renal Disease (MDRD) equation; UAE was measured on\n spot urine samples during the sixth examination cycle (1995-1998) and was\n indexed to urinary creatinine (n = 822). Thyroid stimulating hormone (TSH)\n was measured at the third and fourth examination cycles (1981-1984;\n 1984-1987) and mean value of the measurements were used (n = 810).\n Age-sex-adjusted and multivariable-adjusted residuals for these measurements\n were used in association with genotype data using generalized estimating\n equations (GEE) and family-based association tests (FBAT) models. We\n presented the results for association tests using additive allele model. We\n evaluated associations with 70,987 SNPs on autosomes with minor allele\n frequencies of at least 0.10, Hardy-Weinberg Equilibrium p-value > or =\n 0.001, and call rates of at least 80%. RESULTS: The top SNPs associated with\n these traits using the GEE method were rs2839235 with GFR (p-value\n 1.6*10(-05)), rs1158167 with cysC (p-value 8.5*10(-09)), rs1712790 with UAE\n (p-value 1.9*10(-06)), and rs6977660 with TSH (p-value 3.7*10(-06)),\n respectively. The top SNPs associated with these traits using the FBAT method\n were rs6434804 with GFR(p-value 2.4*10(-5)), rs563754 with cysC (p-value\n 4.7*10(-5)), rs1243400 with UAE (p-value 4.8*10(-6)), and rs4128956 with TSH\n (p-value 3.6*10(-5)), respectively. Detailed association test results can be\n found at\n http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007\n webcite. Four SNPs in or near the CST3 gene were highly associated with cysC\n levels (p-value 8.5*10(-09) to 0.007). CONCLUSION: Kidney function traits and\n TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K\n SNP set. These data will serve as a valuable resource for replication as more\n SNPs associated with kidney function and endocrine traits are identified.", "journal": {"name": "BMC Med Genet", "impact_factor": 0.0}, "refcount": 28, "pubmed_id": "17903292", "published_on": "2007-09-19", "metadata": "{u'essn': u'1471-2350', u'pages': u'S10', u'locationlabel': u'', u'pubdate': u'2007 Sep 19', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'', u'booktitle': u'', u'epubdate': u'2007 Sep 19', u'sorttitle': u'genome wide association for kidney function and endocrine related traits in the nhlbi s framingham heart study', u'lastauthor': u'Fox CS', u'title': u\"A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study.\", u'fulljournalname': u'BMC medical genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Hwang SJ', u'sortpubdate': u'2007/09/19 00:00', u'uid': u'17903292', u'pmcrefcount': 28, u'pubstatus': u'3', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/10/16 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/11/08 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/10/16 09:00'}], u'issn': u'', u'nlmuniqueid': u'100968552', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Hwang SJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yang Q', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Meigs JB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pearce EN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fox CS', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'BMC Med Genet', u'chapter': u'', u'articleids': [{u'value': u'17903292', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1471-2350-8-S1-S10', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1186/1471-2350-8-S1-S10', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1995611', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17903292', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17903292', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1995611;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'8 Suppl 1'}", "phenotypes": [{"body_part": "heart", "fun": false, "description": "Cystatin C", "rsid": "1158167"}, {"body_part": "thyroid", "fun": false, "description": "Thyroid stimulating hormone", "rsid": "6977660"}, {"body_part": "thyroid", "fun": false, "description": "Thyroid stimulating hormone", "rsid": "9322817"}, {"body_part": "thyroid", "fun": false, "description": "Thyroid stimulating hormone", "rsid": "10499559"}, {"body_part": "kidney", "fun": false, "description": "Urinary albumin excretion", "rsid": "1712790"}, {"body_part": "kidney", "fun": false, "description": "Urinary albumin excretion", "rsid": "9305354"}], "chrom": "20", "pos": 23578189, "personal": false}, {"title": "Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.", "authors": "Yang Q", "abstract": "Increased circulating levels of hemostatic factors\n as well as anemia have been associated with increased risk of cardiovascular\n disease (CVD). Known associations between hemostatic factors and sequence\n variants at genes encoding these factors explain only a small proportion of\n total phenotypic variation. We sought to confirm known putative loci and\n identify novel loci that may influence either trait in genome-wide\n association and linkage analyses using the Affymetrix GeneChip 100K single\n nucleotide polymorphism (SNP) set. METHODS: Plasma levels of circulating\n hemostatic factors (fibrinogen, factor VII, plasminogen activator\n inhibitor-1, von Willebrand factor, tissue plasminogen activator, D-dimer)\n and hematological phenotypes (platelet aggregation, viscosity, hemoglobin,\n red blood cell count, mean corpuscular volume, mean corpuscular hemoglobin\n concentration) were obtained in approximately 1000 Framingham Heart Study\n (FHS) participants from 310 families. Population-based association analyses\n using the generalized estimating equations (GEE), family-based association\n test (FBAT), and multipoint variance components linkage analyses were\n performed on the multivariable adjusted residuals of hemostatic and\n hematological phenotypes. RESULTS: In association analysis, the lowest GEE\n p-value for hemostatic factors was p = 4.5*10(-16) for factor VII at SNP\n rs561241, a variant located near the F7 gene and in complete linkage\n disequilibrium (LD) (r2 = 1) with the Arg353Gln F7 SNP previously shown to\n account for 9% of total phenotypic variance. The lowest GEE p-value for\n hematological phenotypes was 7*10(-8) at SNP rs2412522 on chromosome 4 for\n mean corpuscular hemoglobin concentration. We presented top 25 most\n significant GEE results with p-values in the range of 10(-6) to 10(-5) for\n hemostatic or hematological phenotypes. In relating 100K SNPs to known\n candidate genes, we identified two SNPs (rs1582055, rs4897475) in erythrocyte\n membrane protein band 4.1-like 2 (EPB41L2) associated with hematological\n phenotypes (GEE p < 10(-3)). In linkage analyses, the highest linkage LOD\n score for hemostatic factors was 3.3 for factor VII on chromosome 10 around\n 15 Mb, and for hematological phenotypes, LOD 3.4 for hemoglobin on chromosome\n 4 around 55 Mb. All GEE and FBAT association and variance components linkage\n results can be found at\n http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007\n webcite. CONCLUSION: Using genome-wide association methodology, we have\n successfully identified a SNP in complete LD with a sequence variant\n previously shown to be strongly associated with factor VII, providing proof\n of principle for this approach. Further study of additional strongly\n associated SNPs and linked regions may identify novel variants that influence\n the inter-individual variability in hemostatic factors and hematological\n phenotypes.", "journal": {"name": "BMC Med Genet", "impact_factor": 0.0}, "refcount": 29, "pubmed_id": "17903294", "published_on": "2007-09-19", "metadata": "{u'essn': u'1471-2350', u'pages': u'S12', u'locationlabel': u'', u'pubdate': u'2007 Sep 19', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'', u'booktitle': u'', u'epubdate': u'2007 Sep 19', u'sorttitle': u'genome wide association and linkage analyses of hemostatic factors and hematological phenotypes in the framingham heart study', u'lastauthor': u\"O'Donnell CJ\", u'title': u'Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.', u'fulljournalname': u'BMC medical genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Yang Q', u'sortpubdate': u'2007/09/19 00:00', u'uid': u'17903294', u'pmcrefcount': 29, u'pubstatus': u'3', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/10/16 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/11/08 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/10/16 09:00'}], u'issn': u'', u'nlmuniqueid': u'100968552', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Yang Q', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kathiresan S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lin JP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tofler GH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"O'Donnell CJ\", u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'BMC Med Genet', u'chapter': u'', u'articleids': [{u'value': u'17903294', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1471-2350-8-S1-S12', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1186/1471-2350-8-S1-S12', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1995619', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17903294', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17903294', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1995619;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'8 Suppl 1'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Factor VII", "rsid": "10488360"}, {"body_part": "", "fun": false, "description": "Factor VII", "rsid": "966321"}, {"body_part": "", "fun": false, "description": "Hemostatic factors and hematological phenotypes", "rsid": "10493485"}, {"body_part": "", "fun": false, "description": "Factor VII", "rsid": "4591494"}, {"body_part": "", "fun": false, "description": "Factor VII", "rsid": "561241"}, {"body_part": "", "fun": false, "description": "Hemostatic factors and hematological phenotypes", "rsid": "4133289"}, {"body_part": "", "fun": false, "description": "Hemostatic factors and hematological phenotypes", "rsid": "1160297"}, {"body_part": "", "fun": false, "description": "Hemostatic factors and hematological phenotypes", "rsid": "7844723"}, {"body_part": "", "fun": false, "description": "Hemostatic factors and hematological phenotypes", "rsid": "1829883"}, {"body_part": "", "fun": false, "description": "Hemostatic factors and hematological phenotypes", "rsid": "1200821"}, {"body_part": "", "fun": false, "description": "Hemostatic factors and hematological phenotypes", "rsid": "1397048"}, {"body_part": "", "fun": false, "description": "Hemostatic factors and hematological phenotypes", "rsid": "565229"}, {"body_part": "", "fun": false, "description": "Hemostatic factors and hematological phenotypes", "rsid": "10506458"}, {"body_part": "", "fun": false, "description": "Hemostatic factors and hematological phenotypes", "rsid": "9253"}, {"body_part": "", "fun": false, "description": "Hemostatic factors and hematological phenotypes", "rsid": "10489087"}, {"body_part": "", "fun": false, "description": "Hemostatic factors and hematological phenotypes", "rsid": "636864"}, {"body_part": "", "fun": false, "description": "Hemostatic factors and hematological phenotypes", "rsid": "6108011"}, {"body_part": "", "fun": false, "description": "Hemostatic factors and hematological phenotypes", "rsid": "7159841"}, {"body_part": "", "fun": false, "description": "Hemostatic factors and hematological phenotypes", "rsid": "2357013"}, {"body_part": "", "fun": false, "description": "Hemostatic factors and hematological phenotypes", "rsid": "727979"}, {"body_part": "", "fun": false, "description": "Hemostatic factors and hematological phenotypes", "rsid": "4460176"}, {"body_part": "", "fun": false, "description": "Hemostatic factors and hematological phenotypes", "rsid": "10484128"}], "chrom": "7", "pos": 4411209, "personal": false}, {"title": "Genome-wide association with select biomarker traits in the Framingham Heart Study.", "authors": "Benjamin EJ", "abstract": "Systemic biomarkers provide insights into disease\n pathogenesis, diagnosis, and risk stratification. Many systemic biomarker\n concentrations are heritable phenotypes. Genome-wide association studies\n (GWAS) provide mechanisms to investigate the genetic contributions to\n biomarker variability unconstrained by current knowledge of physiological\n relations. METHODS: We examined the association of Affymetrix 100K GeneChip\n single nucleotide polymorphisms (SNPs) to 22 systemic biomarker\n concentrations in 4 biological domains: inflammation/oxidative stress;\n natriuretic peptides; liver function; and vitamins. Related members of the\n Framingham Offspring cohort (n = 1012; mean age 59 +/- 10 years, 51% women)\n had both phenotype and genotype data (minimum-maximum per phenotype n =\n 507-1008). We used Generalized Estimating Equations (GEE), Family Based\n Association Tests (FBAT) and variance components linkage to relate SNPs to\n multivariable-adjusted biomarker residuals. Autosomal SNPs (n = 70,987)\n meeting the following criteria were studied: minor allele frequency > or =\n 10%, call rate > or = 80% and Hardy-Weinberg equilibrium p > or = 0.001.\n RESULTS: With GEE, 58 SNPs had p < 10(-6): the top SNPs were rs2494250 (p =\n 1.00*10(-14)) and rs4128725 (p = 3.68*10(-12)) for monocyte chemoattractant\n protein-1 (MCP1), and rs2794520 (p = 2.83*10(-8)) and rs2808629 (p =\n 3.19*10(-8)) for C-reactive protein (CRP) averaged from 3 examinations (over\n about 20 years). With FBAT, 11 SNPs had p < 10(-6): the top SNPs were the\n same for MCP1 (rs4128725, p = 3.28*10(-8), and rs2494250, p = 3.55*10(-8)),\n and also included B-type natriuretic peptide (rs437021, p = 1.01*10(-6)) and\n Vitamin K percent undercarboxylated osteocalcin (rs2052028, p = 1.07*10(-6)).\n The peak LOD (logarithm of the odds) scores were for MCP1 (4.38, chromosome\n 1) and CRP (3.28, chromosome 1; previously described) concentrations; of note\n the 1.5 support interval included the MCP1 and CRP SNPs reported above (GEE\n model). Previous candidate SNP associations with circulating CRP\n concentrations were replicated at p < 0.05; the SNPs rs2794520 and rs2808629\n are in linkage disequilibrium with previously reported SNPs. GEE, FBAT and\n linkage results are posted at\n http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007\n webcite. CONCLUSION: The Framingham GWAS represents a resource to describe\n potentially novel genetic influences on systemic biomarker variability. The\n newly described associations will need to be replicated in other studies.", "journal": {"name": "BMC Med Genet", "impact_factor": 0.0}, "refcount": 41, "pubmed_id": "17903293", "published_on": "2007-09-19", "metadata": "{u'essn': u'1471-2350', u'pages': u'S11', u'locationlabel': u'', u'pubdate': u'2007 Sep 19', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'', u'booktitle': u'', u'epubdate': u'2007 Sep 19', u'sorttitle': u'genome wide association with select biomarker traits in the framingham heart study', u'lastauthor': u'Vasan RS', u'title': u'Genome-wide association with select biomarker traits in the Framingham Heart Study.', u'fulljournalname': u'BMC medical genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Benjamin EJ', u'sortpubdate': u'2007/09/19 00:00', u'uid': u'17903293', u'pmcrefcount': 41, u'pubstatus': u'3', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/10/16 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/11/08 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/10/16 09:00'}], u'issn': u'', u'nlmuniqueid': u'100968552', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Benjamin EJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dupuis J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Larson MG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lunetta KL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Booth SL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Govindaraju DR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kathiresan S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Keaney JF Jr', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Keyes MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lin JP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Meigs JB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Robins SJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rong J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schnabel R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vita JA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wang TJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wilson PW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wolf PA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vasan RS', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'BMC Med Genet', u'chapter': u'', u'articleids': [{u'value': u'17903293', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1471-2350-8-S1-S11', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1186/1471-2350-8-S1-S11', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1995615', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17903293', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17903293', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1995615;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'8 Suppl 1'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "2494250"}, {"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "4128725"}, {"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "2794520"}, {"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "746961"}, {"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "1594468"}, {"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "1998303"}, {"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "10489849"}, {"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "2387326"}, {"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "10485165"}, {"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "1417352"}, {"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "583012"}, {"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "1486139"}, {"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "10492681"}, {"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "10507577"}, {"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "1474747"}, {"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "7778619"}, {"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "8005745"}, {"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "7552393"}, {"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "10518765"}, {"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "1079596"}, {"body_part": "", "fun": false, "description": "Select biomarker traits", "rsid": "465384"}], "chrom": "1", "pos": 159278251, "personal": false}, {"title": "Genome-wide association of sleep and circadian phenotypes.", "authors": "Gottlieb DJ", "abstract": "Numerous studies suggest genetic influences on\n sleepiness and circadian rhythms. The Sleep Heart Health Study collected\n questionnaire data on sleep habits and sleepiness from 2848 Framingham Heart\n Study Offspring Cohort participants. More than 700 participants were\n genotyped using the Affymetrix 100K SNP GeneChip, providing a unique\n opportunity to assess genetic linkage and association of these traits.\n METHODS: Sleepiness (defined as the Epworth Sleepiness Scale score), usual\n bedtime and usual sleep duration were assessed by self-completion\n questionnaire. Standardized residual measures adjusted for age, sex and BMI\n were analyzed. Multipoint variance components linkage analysis was performed.\n Association of SNPs to sleep phenotypes was analyzed with both\n population-based and family-based association tests, with analysis limited to\n 70,987 autosomal SNPs with minor allele frequency > or =10%, call rate > or\n =80%, and no significant deviation from Hardy-Weinberg equilibrium (p > or =\n 0.001). RESULTS: Heritability of sleepiness was 0.29, bedtime 0.22, and sleep\n duration 0.17. Both genotype and sleep phenotype data were available for 749\n subjects. Linkage analysis revealed five linkage peaks of LOD >2: four to\n usual bedtime, one to sleep duration. These peaks include several candidate\n sleep-related genes, including CSNK2A2, encoding a known component of the\n circadian molecular clock, and PROK2, encoding a putative transmitter of the\n behavioral circadian rhythm from the suprachiasmatic nucleus. Association\n tests identified an association of usual bedtime with a non-synonymous coding\n SNP in NPSR1 that has been shown to encode a gain of function mutation of the\n neuropeptide S receptor, whose endogenous ligand is a potent promoter of\n wakefulness. Each copy of the minor allele of this SNP was associated with a\n 15 minute later mean bedtime. The lowest p value was for association of\n sleepiness with a SNP located in an intron of PDE4D, which encodes a\n cAMP-specific phosphodiesterase widely expressed in human brain. Full\n association results are posted at\n http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007\n webcite. CONCLUSION: This analysis confirms prior reports of significant\n heritability of sleepiness, usual bedtime, and usual sleep duration. Several\n genetic loci with suggestive linkage to these traits are identified,\n including linkage peaks containing circadian clock-related genes. Association\n tests identify NPSR1 and PDE4D as possible mediators of bedtime and\n sleepiness.", "journal": {"name": "BMC Med Genet", "impact_factor": 0.0}, "refcount": 71, "pubmed_id": "17903308", "published_on": "2007-09-19", "metadata": "{u'essn': u'1471-2350', u'pages': u'S9', u'locationlabel': u'', u'pubdate': u'2007 Sep 19', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'', u'booktitle': u'', u'epubdate': u'2007 Sep 19', u'sorttitle': u'genome wide association of sleep and circadian phenotypes', u'lastauthor': u'Wilk JB', u'title': u'Genome-wide association of sleep and circadian phenotypes.', u'fulljournalname': u'BMC medical genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Gottlieb DJ', u'sortpubdate': u'2007/09/19 00:00', u'uid': u'17903308', u'pmcrefcount': 71, u'pubstatus': u'3', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/10/16 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/11/08 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/10/16 09:00'}], u'issn': u'', u'nlmuniqueid': u'100968552', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Gottlieb DJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"O'Connor GT\", u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wilk JB', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'BMC Med Genet', u'chapter': u'', u'articleids': [{u'value': u'17903308', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1471-2350-8-S1-S9', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1186/1471-2350-8-S1-S9', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1995620', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17903308', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17903308', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1995620;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'8 Suppl 1'}", "phenotypes": [{"body_part": "psychological", "fun": false, "description": "Sleep-related phenotypes", "rsid": "6599077"}, {"body_part": "psychological", "fun": false, "description": "Sleep-related phenotypes", "rsid": "1823068"}, {"body_part": "psychological", "fun": false, "description": "Sleep-related phenotypes", "rsid": "2218488"}, {"body_part": "psychological", "fun": false, "description": "Sleep-related phenotypes", "rsid": "1940013"}, {"body_part": "psychological", "fun": false, "description": "Sleep-related phenotypes", "rsid": "10492604"}], "chrom": "3", "pos": 40096618, "personal": false}, {"title": "Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.", "authors": "Vasan RS", "abstract": "Echocardiographic left ventricular (LV)\n measurements, exercise responses to standardized treadmill test (ETT) and\n brachial artery (BA) vascular function are heritable traits that are\n associated with cardiovascular disease risk. We conducted a genome-wide\n association study (GWAS) in the community-based Framingham Heart Study.\n METHODS: We estimated multivariable-adjusted residuals for quantitative\n echocardiography, ETT and BA function traits. Echocardiography residuals were\n averaged across 4 examinations and included LV mass, diastolic and systolic\n dimensions, wall thickness, fractional shortening, left atrial and aortic\n root size. ETT measures (single exam) included systolic blood pressure and\n heart rate responses during exercise stage 2, and at 3 minutes post-exercise.\n BA measures (single exam) included vessel diameter, flow-mediated dilation\n (FMD), and baseline and hyperemic flow responses. Generalized estimating\n equations (GEE), family-based association tests (FBAT) and\n variance-components linkage were used to relate multivariable-adjusted trait\n residuals to 70,987 SNPs (Human 100K GeneChip, Affymetrix) restricted to\n autosomal SNPs with minor allele frequency > or =0.10, genotype call rate >\n or =0.80, and Hardy-Weinberg equilibrium p > or = 0.001. RESULTS: We\n summarize results from 17 traits in up to 1238 related middle-aged to elderly\n men and women. Results of all association and linkage analyses are web-posted\n at http://ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007\n webcite. We confirmed modest-to-strong heritabilities (estimates 0.30-0.52)\n for several Echo, ETT and BA function traits. Overall, p < 10(-5) in either\n GEE or FBAT models were observed for 21 SNPs (nine for echocardiography,\n eleven for ETT and one for BA function). The top SNPs associated were (GEE\n results): LV diastolic dimension, rs1379659 (SLIT2, p = 1.17*10(-7)); LV\n systolic dimension, rs10504543 (KCNB2, p = 5.18*10(-6)); LV mass, rs10498091\n (p = 5.68*10(-6)); Left atrial size, rs1935881 (FAM5C, p = 6.56*10(-6));\n exercise heart rate, rs6847149 (NOLA1, p = 2.74*10(-6)); exercise systolic\n blood pressure, rs2553268 (WRN, p = 6.3*10(-6)); BA baseline flow, rs3814219\n (OBFC1, 9.48*10(-7)), and FMD, rs4148686 (CFTR, p = 1.13*10(-5)). Several\n SNPs are reasonable biological candidates, with some being related to\n multiple traits suggesting pleiotropy. The peak LOD score was for LV mass\n (4.38; chromosome 5); the 1.5 LOD support interval included NRG2. CONCLUSION:\n In hypothesis-generating GWAS of echocardiography, ETT and BA vascular\n function in a moderate-sized community-based sample, we identified several\n SNPs that are candidates for replication attempts and we provide a web-based\n GWAS resource for the research community.", "journal": {"name": "BMC Med Genet", "impact_factor": 0.0}, "refcount": 43, "pubmed_id": "17903301", "published_on": "2007-09-19", "metadata": "{u'essn': u'1471-2350', u'pages': u'S2', u'locationlabel': u'', u'pubdate': u'2007 Sep 19', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'', u'booktitle': u'', u'epubdate': u'2007 Sep 19', u'sorttitle': u'genome wide association of echocardiographic dimensions brachial artery endothelial function and treadmill exercise responses in the framingham heart study', u'lastauthor': u'Benjamin EJ', u'title': u'Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.', u'fulljournalname': u'BMC medical genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Vasan RS', u'sortpubdate': u'2007/09/19 00:00', u'uid': u'17903301', u'pmcrefcount': 43, u'pubstatus': u'3', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/10/20 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/11/08 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/10/20 09:00'}], u'issn': u'', u'nlmuniqueid': u'100968552', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Vasan RS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Larson MG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Aragam J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wang TJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mitchell GF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kathiresan S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Newton-Cheh C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vita JA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Keyes MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"O'Donnell CJ\", u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Levy D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Benjamin EJ', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'BMC Med Genet', u'chapter': u'', u'articleids': [{u'value': u'17903301', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1471-2350-8-S1-S2', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1186/1471-2350-8-S1-S2', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1995617', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17903301', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17903301', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1995617;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'8 Suppl 1'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Endothelial function traits", "rsid": "3814219"}, {"body_part": "", "fun": true, "description": "Exercise treadmill test traits", "rsid": "2819770"}, {"body_part": "heart", "fun": false, "description": "Echocardiographic traits", "rsid": "666088"}, {"body_part": "heart", "fun": false, "description": "Echocardiographic traits", "rsid": "10504543"}, {"body_part": "heart", "fun": false, "description": "Echocardiographic traits", "rsid": "1935881"}, {"body_part": "heart", "fun": false, "description": "Echocardiographic traits", "rsid": "10493389"}, {"body_part": "heart", "fun": false, "description": "Echocardiographic traits", "rsid": "4920799"}, {"body_part": "", "fun": true, "description": "Exercise treadmill test traits", "rsid": "746463"}, {"body_part": "", "fun": true, "description": "Exercise treadmill test traits", "rsid": "2553268"}, {"body_part": "heart", "fun": false, "description": "Echocardiographic traits", "rsid": "10498091"}, {"body_part": "", "fun": true, "description": "Exercise treadmill test traits", "rsid": "6847149"}, {"body_part": "heart", "fun": false, "description": "Echocardiographic traits", "rsid": "366676"}, {"body_part": "heart", "fun": false, "description": "Echocardiographic traits", "rsid": "1379659"}], "chrom": "4", "pos": 20620683, "personal": false}, {"title": "Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes.", "authors": "Larson MG", "abstract": "Cardiovascular disease (CVD) and its most common\n manifestations--including coronary heart disease (CHD), stroke, heart failure\n (HF), and atrial fibrillation (AF)--are major causes of morbidity and\n mortality. In many industrialized countries, cardiovascular disease (CVD)\n claims more lives each year than any other disease. Heart disease and stroke\n are the first and third leading causes of death in the United States. Prior\n investigations have reported several single gene variants associated with\n CHD, stroke, HF, and AF. We report a community-based genome-wide association\n study of major CVD outcomes. METHODS: In 1345 Framingham Heart Study\n participants from the largest 310 pedigrees (54% women, mean age 33 years at\n entry), we analyzed associations of 70,987 qualifying SNPs (Affymetrix 100K\n GeneChip) to four major CVD outcomes: major atherosclerotic CVD (n = 142;\n myocardial infarction, stroke, CHD death), major CHD (n = 118; myocardial\n infarction, CHD death), AF (n = 151), and HF (n = 73). Participants free of\n the condition at entry were included in proportional hazards models. We\n analyzed model-based deviance residuals using generalized estimating\n equations to test associations between SNP genotypes and traits in additive\n genetic models restricted to autosomal SNPs with minor allele frequency > or\n =0.10, genotype call rate > or =0.80, and Hardy-Weinberg equilibrium p-value\n > or = 0.001. RESULTS: Six associations yielded p < 10(-5). The lowest\n p-values for each CVD trait were as follows: major CVD, rs499818, p = 6.6 x\n 10(-6); major CHD, rs2549513, p = 9.7 x 10(-6); AF, rs958546, p = 4.8 x\n 10(-6); HF: rs740363, p = 8.8 x 10(-6). Of note, we found associations of a\n 13 Kb region on chromosome 9p21 with major CVD (p 1.7-1.9 x 10(-5)) and major\n CHD (p 2.5-3.5 x 10(-4)) that confirm associations with CHD in two recently\n reported genome-wide association studies. Also, rs10501920 in CNTN5 was\n associated with AF (p = 9.4 x 10(-6)) and HF (p = 1.2 x 10(-4)). Complete\n results for these phenotypes can be found at the dbgap website\n http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007\n webcite. CONCLUSION: No association attained genome-wide significance, but\n several intriguing findings emerged. Notably, we replicated associations of\n chromosome 9p21 with major CVD. Additional studies are needed to validate\n these results. Finding genetic variants associated with CVD may point to\n novel disease pathways and identify potential targeted preventive therapies.", "journal": {"name": "BMC Med Genet", "impact_factor": 0.0}, "refcount": 75, "pubmed_id": "17903304", "published_on": "2007-09-19", "metadata": "{u'essn': u'1471-2350', u'pages': u'S5', u'locationlabel': u'', u'pubdate': u'2007 Sep 19', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'', u'booktitle': u'', u'epubdate': u'2007 Sep 19', u'sorttitle': u'framingham heart study 100k project genome wide associations for cardiovascular disease outcomes', u'lastauthor': u'Levy D', u'title': u'Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes.', u'fulljournalname': u'BMC medical genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Larson MG', u'sortpubdate': u'2007/09/19 00:00', u'uid': u'17903304', u'pmcrefcount': 75, u'pubstatus': u'3', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/10/16 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/11/08 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/10/16 09:00'}], u'issn': u'', u'nlmuniqueid': u'100968552', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Larson MG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Atwood LD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Benjamin EJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cupples LA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"D'Agostino RB Sr\", u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fox CS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Govindaraju DR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Guo CY', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heard-Costa NL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hwang SJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Murabito JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Newton-Cheh C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"O'Donnell CJ\", u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Seshadri S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vasan RS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wang TJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wolf PA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Levy D', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'BMC Med Genet', u'chapter': u'', u'articleids': [{u'value': u'17903304', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1471-2350-8-S1-S5', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1186/1471-2350-8-S1-S5', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC1995607', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17903304', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17903304', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC1995607;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'8 Suppl 1'}", "phenotypes": [{"body_part": "heart", "fun": false, "description": "Atrial fibrillation", "rsid": "4776472"}, {"body_part": "heart", "fun": false, "description": "Atrial fibrillation", "rsid": "10501920"}, {"body_part": "heart", "fun": false, "description": "Heart failure", "rsid": "740363"}, {"body_part": "", "fun": false, "description": "Major CVD", "rsid": "499818"}, {"body_part": "heart", "fun": false, "description": "Atrial fibrillation", "rsid": "958546"}], "chrom": "13", "pos": 46833717, "personal": false}, {"title": "A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.", "authors": "Broderick P", "abstract": "To identify risk variants for colorectal cancer (CRC), we\n conducted a genome-wide association study, genotyping 550,163 tag SNPs in 940\n individuals with familial colorectal tumor (627 CRC, 313 advanced adenomas)\n and 965 controls. We evaluated selected SNPs in three replication sample sets\n (7,473 cases, 5,984 controls) and identified three SNPs in SMAD7 (involved in\n TGF-beta and Wnt signaling) associated with CRC. Across the four sample sets,\n the association between rs4939827 and CRC was highly statistically\n significant (P(trend) = 1.0 x 10(-12)).", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 199, "pubmed_id": "17934461", "published_on": "2007-10-14", "metadata": "{u'essn': u'1546-1718', u'pages': u'1315-7', u'locationlabel': u'', u'pubdate': u'2007 Nov', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'11', u'booktitle': u'', u'epubdate': u'2007 Oct 14', u'sorttitle': u'genome wide association study shows that common alleles of smad7 influence colorectal cancer risk', u'lastauthor': u'Houlston RS', u'title': u'A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Broderick P', u'sortpubdate': u'2007/11/01 00:00', u'uid': u'17934461', u'pmcrefcount': 199, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/07/31 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/09/18 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/10/16 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/01/16 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/10/16 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Broderick P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Carvajal-Carmona L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pittman AM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Webb E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Howarth K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rowan A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lubbe S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Spain S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sullivan K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fielding S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jaeger E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vijayakrishnan J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kemp Z', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gorman M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chandler I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Papaemmanuil E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Penegar S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wood W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sellick G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Qureshi M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Teixeira A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Domingo E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barclay E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Martin L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sieber O', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'CORGI Consortium.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Kerr D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gray R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Peto J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cazier JB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tomlinson I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Houlston RS', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'17934461', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.2007.18', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.2007.18', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17934461', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17934461', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'39'}", "phenotypes": [{"body_part": "colorectal", "fun": false, "description": "Colorectal cancer", "rsid": "4939827"}], "chrom": "18", "pos": 46453463, "personal": true}, {"title": "A genomewide association study of skin pigmentation in a South Asian population.", "authors": "Stokowski RP", "abstract": "We have conducted a multistage genomewide association study,\n using 1,620,742 single-nucleotide polymorphisms to systematically investigate\n the genetic factors influencing intrinsic skin pigmentation in a population\n of South Asian descent. Polymorphisms in three genes--SLC24A5, TYR, and\n SLC45A2--yielded highly significant replicated associations with\n skin-reflectance measurements, an indirect measure of melanin content in the\n skin. The associations detected in these three genes, in an additive manner,\n collectively account for a large fraction of the natural variation of skin\n pigmentation in a South Asian population. Our study is the first to\n interrogate polymorphisms across the genome, to find genetic determinants of\n the natural variation of skin pigmentation within a human population.", "journal": {"name": "Am J Hum Genet", "impact_factor": 0.0}, "refcount": 73, "pubmed_id": "17999355", "published_on": "2007-10-15", "metadata": "{u'essn': u'1537-6605', u'pages': u'1119-32', u'locationlabel': u'', u'pubdate': u'2007 Dec', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'6', u'booktitle': u'', u'epubdate': u'2007 Oct 15', u'sorttitle': u'genomewide association study of skin pigmentation in a south asian population', u'lastauthor': u'Cox DR', u'title': u'A genomewide association study of skin pigmentation in a South Asian population.', u'fulljournalname': u'American journal of human genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Stokowski RP', u'sortpubdate': u'2007/12/01 00:00', u'uid': u'17999355', u'pmcrefcount': 73, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/04/24 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/08/01 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/11/14 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/12/14 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/11/14 09:00'}], u'issn': u'0002-9297', u'nlmuniqueid': u'0370475', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Stokowski RP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pant PV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dadd T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fereday A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hinds DA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jarman C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Filsell W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ginger RS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Green MR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'van der Ouderaa FJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cox DR', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Am J Hum Genet', u'chapter': u'', u'articleids': [{u'value': u'17999355', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'S0002-9297(07)63763-X', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1086/522235', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2276347', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17999355', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17999355', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2276347;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'81'}", "phenotypes": [{"body_part": "skin", "fun": true, "description": "Skin pigmentation", "rsid": "1834640"}, {"body_part": "skin", "fun": true, "description": "Skin pigmentation", "rsid": "1042602"}, {"body_part": "skin", "fun": true, "description": "Skin pigmentation", "rsid": "16891982"}], "chrom": "15", "pos": 48392165, "personal": true}, {"title": "Genetic determinants of hair, eye and skin pigmentation in Europeans.", "authors": "Sulem P", "abstract": "Hair, skin and eye colors are highly heritable and visible\n traits in humans. We carried out a genome-wide association scan for variants\n associated with hair and eye pigmentation, skin sensitivity to sun and\n freckling among 2,986 Icelanders. We then tested the most closely associated\n SNPs from six regions--four not previously implicated in the normal variation\n of human pigmentation--and replicated their association in a second sample of\n 2,718 Icelanders and a sample of 1,214 Dutch. The SNPs from all six regions\n met the criteria for genome-wide significance. A variant in SLC24A4 is\n associated with eye and hair color, a variant near KITLG is associated with\n hair color, two coding variants in TYR are associated with eye color and\n freckles, and a variant on 6p25.3 is associated with freckles. The fifth\n region provided refinements to a previously reported association in OCA2, and\n the sixth encompasses previously described variants in MC1R.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 180, "pubmed_id": "17952075", "published_on": "2007-10-21", "metadata": "{u'essn': u'1546-1718', u'pages': u'1443-52', u'locationlabel': u'', u'pubdate': u'2007 Dec', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'12', u'booktitle': u'', u'epubdate': u'2007 Oct 21', u'sorttitle': u'genetic determinants of hair eye and skin pigmentation in europeans', u'lastauthor': u'Stefansson K', u'title': u'Genetic determinants of hair, eye and skin pigmentation in Europeans.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Sulem P', u'sortpubdate': u'2007/12/01 00:00', u'uid': u'17952075', u'pmcrefcount': 180, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/06/13 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/09/13 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/10/24 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/12/12 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/10/24 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18046321, u'refsource': u'Nat Genet. 2007 Dec;39(12):1415', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Sulem P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudbjartsson DF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stacey SN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Helgason A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rafnar T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Magnusson KP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Manolescu A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Karason A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Palsson A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorleifsson G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jakobsdottir M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Steinberg S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'P\\xe1lsson S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonasson F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sigurgeirsson B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorisdottir K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ragnarsson R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Benediktsdottir KR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Aben KK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kiemeney LA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Olafsson JH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gulcher J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kong A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorsteinsdottir U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansson K', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'17952075', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.2007.13', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.2007.13', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17952075', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17952075', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'39'}", "phenotypes": [{"body_part": "face", "fun": true, "description": "Blond vs. brown hair color", "rsid": "12896399"}, {"body_part": "face", "fun": true, "description": "Blue vs. green eyes", "rsid": "12896399"}, {"body_part": "skin", "fun": true, "description": "Freckles", "rsid": "1540771"}, {"body_part": "face", "fun": true, "description": "Red vs non-red hair color", "rsid": "1805007"}, {"body_part": "face", "fun": true, "description": "Blond vs. brown hair color", "rsid": "1805007"}, {"body_part": "face", "fun": true, "description": "Blond vs. brown hair color", "rsid": "1667394"}, {"body_part": "face", "fun": true, "description": "Blue vs. brown eyes", "rsid": "1667394"}, {"body_part": "face", "fun": true, "description": "Blue vs. green eyes", "rsid": "1393350"}, {"body_part": "skin", "fun": true, "description": "Freckles", "rsid": "1042602"}, {"body_part": "skin", "fun": true, "description": "Freckles", "rsid": "1805007"}, {"body_part": "skin", "fun": true, "description": "Skin sensitivity to sun", "rsid": "1393350"}, {"body_part": "skin", "fun": true, "description": "Skin sensitivity to sun", "rsid": "1805007"}, {"body_part": "face", "fun": true, "description": "Blond vs. brown hair color", "rsid": "12821256"}, {"body_part": "face", "fun": true, "description": "Blue vs. green eyes", "rsid": "1667394"}], "chrom": "12", "pos": 89328335, "personal": false}, {"title": "Sorl1 as an Alzheimer's disease predisposition gene?", "authors": "Webster JA", "abstract": "Alzheimer's disease (AD) is a neurodegenerative disorder\n characterized by progressively disabling impairments in memory, cognition,\n and non-cognitive behavioural symptoms. Sporadic AD is multifactorial and\n genetically complex. While several monogenic mutations cause early-onset AD\n and gene alleles have been suggested as AD susceptibility factors, the only\n extensively validated susceptibility gene for late-onset AD is the\n apolipoprotein E (APOE) epsilon4 allele. Alleles of the APOE gene do not\n account for all of the genetic load calculated to be responsible for AD\n predisposition. Recently, polymorphisms across the neuronal sortilin-related\n receptor (SORL1) gene were shown to be significantly associated with AD in\n several cohorts. Here we present the results of our large case-control\n whole-genome scan at over 500,000 polymorphisms which presents weak evidence\n for association and potentially narrows the association interval.", "journal": {"name": "Neurodegener Dis", "impact_factor": 0.0}, "refcount": 30, "pubmed_id": "17975299", "published_on": "2007-11-01", "metadata": "{u'essn': u'1660-2862', u'pages': u'60-4', u'locationlabel': u'', u'pubdate': u'2008', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'2', u'booktitle': u'', u'epubdate': u'2007 Nov 1', u'sorttitle': u'sorl1 as an alzheimer s disease predisposition gene', u'lastauthor': u'Stephan DA', u'title': u\"Sorl1 as an Alzheimer's disease predisposition gene?\", u'fulljournalname': u'Neuro-degenerative diseases', u'publisherlocation': u'', u'sortfirstauthor': u'Webster JA', u'sortpubdate': u'2008/01/01 00:00', u'uid': u'17975299', u'pmcrefcount': 30, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/03/08 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/06/04 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/11/03 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/04/26 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/11/03 09:00'}], u'issn': u'1660-2854', u'nlmuniqueid': u'101189034', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Webster JA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Myers AJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pearson JV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Craig DW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hu-Lince D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Coon KD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zismann VL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Beach T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Leung D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bryden L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Halperin RF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Marlowe L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kaleem M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Huentelman MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Joshipura K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Walker D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heward CB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ravid R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rogers J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Papassotiropoulos A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hardy J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Reiman EM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stephan DA', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Neurodegener Dis', u'chapter': u'', u'articleids': [{u'value': u'17975299', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'000110789', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1159/000110789', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17975299', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17975299', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'5'}", "phenotypes": [{"body_part": "brain", "fun": false, "description": "Alzheimer's disease", "rsid": "4420638"}], "chrom": "19", "pos": 45422946, "personal": false}, {"title": "Two independent alleles at 6q23 associated with risk of rheumatoid arthritis.", "authors": "Plenge RM", "abstract": "To identify susceptibility alleles associated with rheumatoid\n arthritis, we genotyped 397 individuals with rheumatoid arthritis for 116,204\n SNPs and carried out an association analysis in comparison to publicly\n available genotype data for 1,211 related individuals from the Framingham\n Heart Study. After evaluating and adjusting for technical and population\n biases, we identified a SNP at 6q23 (rs10499194, approximately 150 kb from\n TNFAIP3 and OLIG3) that was reproducibly associated with rheumatoid arthritis\n both in the genome-wide association (GWA) scan and in 5,541 additional\n case-control samples (P = 10(-3), GWA scan; P < 10(-6), replication; P =\n 10(-9), combined). In a concurrent study, the Wellcome Trust Case Control\n Consortium (WTCCC) has reported strong association of rheumatoid arthritis\n susceptibility to a different SNP located 3.8 kb from rs10499194 (rs6920220;\n P = 5 x 10(-6) in WTCCC). We show that these two SNP associations are\n statistically independent, are each reproducible in the comparison of our\n data and WTCCC data, and define risk and protective haplotypes for rheumatoid\n arthritis at 6q23.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 215, "pubmed_id": "17982456", "published_on": "2007-11-04", "metadata": "{u'essn': u'1546-1718', u'pages': u'1477-82', u'locationlabel': u'', u'pubdate': u'2007 Dec', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'12', u'booktitle': u'', u'epubdate': u'2007 Nov 4', u'sorttitle': u'two independent alleles at 6q23 associated with risk of rheumatoid arthritis', u'lastauthor': u'Altshuler D', u'title': u'Two independent alleles at 6q23 associated with risk of rheumatoid arthritis.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Plenge RM', u'sortpubdate': u'2007/12/01 00:00', u'uid': u'17982456', u'pmcrefcount': 215, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/04/19 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/09/26 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/11/06 09:00'}, {u'pubstatus': u'medline', u'date': u'2007/12/12 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/11/06 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Plenge RM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cotsapas C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Davies L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Price AL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'de Bakker PI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Maller J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"Pe'er I\", u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Burtt NP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Blumenstiel B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'DeFelice M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Parkin M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barry R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Winslow W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Healy C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Graham RR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Neale BM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Izmailova E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Roubenoff R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Parker AN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Glass R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Karlson EW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Maher N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hafler DA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lee DM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Seldin MF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Remmers EF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lee AT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Padyukov L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Alfredsson L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Coblyn J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Weinblatt ME', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gabriel SB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Purcell S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Klareskog L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gregersen PK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Shadick NA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Daly MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Altshuler D', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'17982456', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.2007.27', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.2007.27', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2652744', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS85969', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'17982456', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17982456', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2652744;manuscript-id: NIHMS85969;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'39'}", "phenotypes": [{"body_part": "bone", "fun": false, "description": "Rheumatoid arthritis", "rsid": "10499194"}, {"body_part": "bone", "fun": false, "description": "Rheumatoid arthritis", "rsid": "6920220"}], "chrom": "6", "pos": 138002637, "personal": false}, {"title": "The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts.", "authors": "Li S", "abstract": "High serum uric acid levels elevate pro-inflammatory-state gout\n crystal arthropathy and place individuals at high risk for cardiovascular\n morbidity and mortality. Genome-wide scans in the genetically isolated\n Sardinian population identified variants associated with serum uric acid\n levels as a quantitative trait. They mapped within GLUT9, a Chromosome 4\n glucose transporter gene predominantly expressed in liver and kidney. SNP\n rs6855911 showed the strongest association (p = 1.84 x 10(-16)), along with\n eight others (p = 7.75 x 10(-16) to 6.05 x 10(-11)). Individuals homozygous\n for the rare allele of rs6855911 (minor allele frequency = 0.26) had 0.6\n mg/dl less uric acid than those homozygous for the common allele; the results\n were replicated in an unrelated cohort from Tuscany. Our results suggest that\n polymorphisms in GLUT9 could affect glucose metabolism and uric acid\n synthesis and/or renal reabsorption, influencing serum uric acid levels over\n a wide range of values.", "journal": {"name": "PLoS Genet", "impact_factor": 0.0}, "refcount": 89, "pubmed_id": "17997608", "published_on": "2007-11-09", "metadata": "{u'essn': u'1553-7404', u'pages': u'e194', u'locationlabel': u'', u'pubdate': u'2007 Nov', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'11', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'glut9 gene is associated with serum uric acid levels in sardinia and chianti cohorts', u'lastauthor': u'Nagaraja R', u'title': u'The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts.', u'fulljournalname': u'PLoS genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Li S', u'sortpubdate': u'2007/11/01 00:00', u'uid': u'17997608', u'pmcrefcount': 89, u'pubstatus': u'4', u'history': [{u'pubstatus': u'received', u'date': u'2007/07/27 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/09/24 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/11/14 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/05/16 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/11/14 09:00'}], u'issn': u'1553-7390', u'nlmuniqueid': u'101239074', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Li S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sanna S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Maschio A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Busonero F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Usala G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mulas A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lai S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dei M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Orr\\xf9 M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Albai G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bandinelli S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schlessinger D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lakatta E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Scuteri A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Najjar SS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Guralnik J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Naitza S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Crisponi L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cao A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Abecasis G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ferrucci L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Uda M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chen WM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nagaraja R', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'PLoS Genet', u'chapter': u'', u'articleids': [{u'value': u'17997608', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'07-PLGE-RA-0574', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1371/journal.pgen.0030194', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2065883', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'17997608', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17997608', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2065883;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'3'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Urate levels", "rsid": "6855911"}], "chrom": "4", "pos": 9935910, "personal": false}, {"title": "Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.", "authors": "Li H", "abstract": "OBJECTIVE: To identify single-nucleotide polymorphisms (SNPs)\n associated with risk and age at onset of Alzheimer disease (AD) in a\n genomewide association study of 469 438 SNPs. DESIGN: Case-control study with\n replication. SETTING: Memory referral clinics in Canada and the United\n Kingdom. PARTICIPANTS: The hypothesis-generating data set consisted of 753\n individuals with AD by National Institute of Neurological and Communicative\n Diseases and Stroke/Alzheimer's Disease and Related Disorders Association\n criteria recruited from 9 memory referral clinics in Canada and 736\n ethnically matched control subjects; control subjects were recruited from\n nonbiological relatives, friends, or spouses of the patients and did not\n exhibit cognitive impairment by history or cognitive testing. The follow-up\n data set consisted of 418 AD cases and 249 nondemented control cases from the\n United Kingdom Medical Research Council Genetic Resource for Late-Onset AD\n recruited from clinics at Cardiff University, Cardiff, Wales, and King's\n College London, London, England. MAIN OUTCOME MEASURES: Odds ratios and 95%\n confidence intervals for association of SNPs with AD by logistic regression\n adjusted for age, sex, education, study site, and French Canadian ancestry\n (for the Canadian data set). Hazard ratios and 95% confidence intervals from\n Cox proportional hazards regression for age at onset with similar covariate\n adjustments. RESULTS: Unadjusted, SNP RS4420638 within APOC1 was strongly\n associated with AD due entirely to linkage disequilibrium with APOE. In the\n multivariable adjusted analyses, 3 SNPs within the top 120 by P value in the\n logistic analysis and 1 in the Cox analysis of the Canadian data set provided\n additional evidence for association at P< .05 within the United Kingdom\n Medical Research Council data set: RS7019241 (GOLPH2), RS10868366 (GOLPH2),\n RS9886784 (chromosome 9), and RS10519262 (intergenic between ATP8B4 and\n SLC27A2). CONCLUSIONS: Our genomewide association analysis again identified\n the APOE linkage disequilibrium region as the strongest genetic risk factor\n for AD. This could be a consequence of the coevolution of more than 1\n susceptibility allele, such as APOC1, in this region. We also provide new\n evidence for additional candidate genetic risk factors for AD that can be\n tested in further studies.", "journal": {"name": "Arch Neurol", "impact_factor": 0.0}, "refcount": 159, "pubmed_id": "17998437", "published_on": "2007-11-12", "metadata": "{u'essn': u'1538-3687', u'pages': u'45-53', u'locationlabel': u'', u'pubdate': u'2008 Jan', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'1', u'booktitle': u'', u'epubdate': u'2007 Nov 12', u'sorttitle': u'candidate single nucleotide polymorphisms from a genomewide association study of alzheimer disease', u'lastauthor': u'Roses AD', u'title': u'Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.', u'fulljournalname': u'Archives of neurology', u'publisherlocation': u'', u'sortfirstauthor': u'Li H', u'sortpubdate': u'2008/01/01 00:00', u'uid': u'17998437', u'pmcrefcount': 159, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/11/14 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/02/15 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/11/14 09:00'}], u'issn': u'0003-9942', u'nlmuniqueid': u'0372436', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Li H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wetten S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Li L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'St Jean PL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Upmanyu R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Surh L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hosford D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barnes MR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Briley JD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Borrie M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Coletta N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Delisle R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dhalla D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ehm MG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Feldman HH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fornazzari L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gauthier S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Goodgame N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Guzman D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hammond S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hollingworth P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hsiung GY', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Johnson J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kelly DD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Keren R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kertesz A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'King KS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lovestone S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Loy-English I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Matthews PM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Owen MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Plumpton M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pryse-Phillips W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Prinjha RK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Richardson JC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Saunders A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Slater AJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'St George-Hyslop PH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stinnett SW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Swartz JE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Taylor RL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wherrett J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Williams J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yarnall DP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gibson RA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Irizarry MC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Middleton LT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Roses AD', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Arch Neurol', u'chapter': u'', u'articleids': [{u'value': u'17998437', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'2007.3', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1001/archneurol.2007.3', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'17998437', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'17998437', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'65'}", "phenotypes": [{"body_part": "brain", "fun": false, "description": "Alzheimer's disease", "rsid": "4420638"}], "chrom": "19", "pos": 45422946, "personal": false}, {"title": "A novel genetic marker for coronary spasm in women from a genome-wide single nucleotide polymorphism analysis.", "authors": "Suzuki S", "abstract": "OBJECTIVE: Coronary spasm plays an important role in the\n pathogenesis of variant angina and also ischemic heart diseases in general,\n and it is more likely to occur in angiographically normal coronary arteries\n than in stenotic coronary arteries. We previously found a -786T/C\n polymorphism in the 5'-flanking region of the endothelial nitric oxide\n synthase (eNOS) gene and reported that this polymorphism is associated with\n coronary spasm. We report on an investigation of the genetic factor(s)\n associated with coronary spasm utilizing a genome-wide case-control study.\n METHODS AND RESULTS: We recruited 411 consecutive Japanese women (201 with\n coronary spasm; 210 controls) who were all underwent an acetylcholine\n provocation test. For single nucleotide polymorphism analysis (SNP), 116,204\n SNPs were genotyped for 100 women (50 with coronary spasm; 50 controls)\n utilizing the Affymetrix GeneChip 100 K Set. Case-control studies were\n performed with 311 women (151 with coronary spasm; 160 controls) using the 10\n lowest permutation P value SNPs from the initial SNP analysis. Finally, we\n discovered SNP rs10498345, a genetic marker for coronary spasm in Japanese\n women (Odds ratio=0.43, P=9.48x10(-7)). Haplotype analysis showed that\n haplotype H2, the only haplotype containing the protective A allele at SNP\n rs10498345, was most strongly associated with coronary spasm (permutation P\n value <1x10(-4)). SNP rs10498345 was strongly associated with the\n vasoconstrictor response to acetylcholine. Northern blot analysis revealed a\n novel 4.7 kb RNA transcript, which lacked poly (A), nearby SNP rs10498345.\n CONCLUSIONS: SNP rs10498345 was strongly associated with coronary spasm in\n Japanese women utilizing genome-wide SNP analysis.", "journal": {"name": "Pharmacogenet Genomics", "impact_factor": 0.0}, "refcount": 3, "pubmed_id": "18075462", "published_on": "2007-11-17", "metadata": "{u'essn': u'1744-6880', u'pages': u'919-30', u'locationlabel': u'', u'pubdate': u'2007 Nov', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'11', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'novel genetic marker for coronary spasm in women from a genome wide single nucleotide polymorphism analysis', u'lastauthor': u'Ogawa H', u'title': u'A novel genetic marker for coronary spasm in women from a genome-wide single nucleotide polymorphism analysis.', u'fulljournalname': u'Pharmacogenetics and genomics', u'publisherlocation': u'', u'sortfirstauthor': u'Suzuki S', u'sortpubdate': u'2007/11/01 00:00', u'uid': u'18075462', u'pmcrefcount': 3, u'pubstatus': u'4', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/12/14 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/01/16 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/12/14 09:00'}], u'issn': u'1744-6872', u'nlmuniqueid': u'101231005', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Suzuki S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yoshimura M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nakayama M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Abe K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yamamuro M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nagayoshi Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kojima S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kaikita K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sugiyama S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yasue H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ogawa H', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Pharmacogenet Genomics', u'chapter': u'', u'articleids': [{u'value': u'18075462', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'10.1097/FPC.0b013e328136bd35', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'01213011-200711000-00003', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'18075462', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18075462', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'17'}", "phenotypes": [{"body_part": "heart", "fun": false, "description": "Coronary spasm", "rsid": "10498345"}], "chrom": "14", "pos": 39020505, "personal": false}, {"title": "A genome-wide association study of sporadic ALS in a homogenous Irish population.", "authors": "Cronin S", "abstract": "Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative\n disease characterized by progressive limb or bulbar weakness. Efforts to\n elucidate the disease-associated loci have to date produced conflicting\n results. One strategy to improve power in genome-wide studies is to genotype\n a genetically homogenous population. Such a population exhibits extended\n linkage disequilibrium (LD) and lower allelic heterogeneity to facilitate\n disease gene mapping. We sought to identify associated variants for ALS in\n the Irish, a stable population of relatively homogenous genetic background,\n and to replicate these findings in larger genetically out-bred populations.\n We conducted a genome-wide association study in 432 Irish individuals using\n Illumina HumanHap 550K single nucleotide polymorphism chips. We demonstrated\n extended LD and increased homogeneity in the Irish sample when compared to an\n out-bred population of mixed European ancestry. The Irish scan identified 35\n loci associated with P-values below 0.0001. For replication, we identified\n seven chromosomal regions commonly associated in a joint analysis of\n genome-wide data on 958 ALS cases and 932 controls from Ireland and the\n previously published datasets from the US and The Netherlands. When pooled,\n the strongest association was a variant in the gene encoding DPP6, a\n component of type A neuronal transmembrane potassium channels. Further\n confirmation of the candidate loci is warranted in additional genome-wide\n datasets. We have made our individual genotyping data publicly available,\n contributing to a powerful world-wide resource to refine our understanding of\n the genetics of sporadic ALS.", "journal": {"name": "Hum Mol Genet", "impact_factor": 0.0}, "refcount": 66, "pubmed_id": "18057069", "published_on": "2007-12-07", "metadata": "{u'essn': u'1460-2083', u'pages': u'768-74', u'locationlabel': u'', u'pubdate': u'2008 Mar 1', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5', u'booktitle': u'', u'epubdate': u'2007 Dec 5', u'sorttitle': u'genome wide association study of sporadic als in a homogenous irish population', u'lastauthor': u'Hardiman O', u'title': u'A genome-wide association study of sporadic ALS in a homogenous Irish population.', u'fulljournalname': u'Human molecular genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Cronin S', u'sortpubdate': u'2008/03/01 00:00', u'uid': u'18057069', u'pmcrefcount': 66, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2007/12/07 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/03/15 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/12/07 09:00'}], u'issn': u'0964-6906', u'nlmuniqueid': u'9208958', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Cronin S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Berger S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ding J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schymick JC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Washecka N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hernandez DG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Greenway MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bradley DG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Traynor BJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hardiman O', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Hum Mol Genet', u'chapter': u'', u'articleids': [{u'value': u'18057069', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ddm361', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1093/hmg/ddm361', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18057069', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18057069', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'17'}", "phenotypes": [{"body_part": "brain", "fun": false, "description": "Amyotrophic lateral sclerosis", "rsid": "10260404"}], "chrom": "7", "pos": 154210798, "personal": false}, {"title": "Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.", "authors": "van Es MA", "abstract": "We identified a SNP in the DPP6 gene that is consistently\n strongly associated with susceptibility to amyotrophic lateral sclerosis\n (ALS) in different populations of European ancestry, with an overall P value\n of 5.04 x 10(-8) in 1,767 cases and 1,916 healthy controls and with an odds\n ratio of 1.30 (95% confidence interval (CI) of 1.18-1.43). Our finding is the\n first report of a genome-wide significant association with sporadic ALS and\n may be a target for future functional studies.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 72, "pubmed_id": "18084291", "published_on": "2007-12-16", "metadata": "{u'essn': u'1546-1718', u'pages': u'29-31', u'locationlabel': u'', u'pubdate': u'2008 Jan', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'1', u'booktitle': u'', u'epubdate': u'2007 Dec 16', u'sorttitle': u'genetic variation in dpp6 is associated with susceptibility to amyotrophic lateral sclerosis', u'lastauthor': u'van den Berg LH', u'title': u'Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'van Es MA', u'sortpubdate': u'2008/01/01 00:00', u'uid': u'18084291', u'pmcrefcount': 72, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/06/26 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/10/16 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/12/18 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/01/19 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/12/18 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'van Es MA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'van Vught PW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Blauw HM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Franke L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Saris CG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Van den Bosch L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'de Jong SW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'de Jong V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Baas F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"van't Slot R\", u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lemmens R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schelhaas HJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Birve A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sleegers K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Van Broeckhoven C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schymick JC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Traynor BJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wokke JH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wijmenga C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Robberecht W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Andersen PM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Veldink JH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ophoff RA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'van den Berg LH', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18084291', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.2007.52', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.2007.52', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18084291', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18084291', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "brain", "fun": false, "description": "Amyotrophic lateral sclerosis", "rsid": "10260404"}, {"body_part": "brain", "fun": false, "description": "Amyotrophic lateral sclerosis", "rsid": "3825776"}, {"body_part": "brain", "fun": false, "description": "Amyotrophic lateral sclerosis", "rsid": "7580332"}], "chrom": "7", "pos": 154210798, "personal": false}, {"title": "Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.", "authors": "Hinney A", "abstract": "Obesity is a major health problem. Although\n heritability is substantial, genetic mechanisms predisposing to obesity are\n not very well understood. We have performed a genome wide association study\n (GWA) for early onset (extreme) obesity. METHODOLOGY/PRINCIPAL FINDINGS: a)\n GWA (Genome-Wide Human SNP Array 5.0 comprising 440,794 single nucleotide\n polymorphisms) for early onset extreme obesity based on 487 extremely obese\n young German individuals and 442 healthy lean German controls; b)\n confirmatory analyses on 644 independent families with at least one obese\n offspring and both parents. We aimed to identify and subsequently confirm the\n 15 SNPs (minor allele frequency > or =10%) with the lowest p-values of the\n GWA by four genetic models: additive, recessive, dominant and allelic. Six\n single nucleotide polymorphisms (SNPs) in FTO (fat mass and obesity\n associated gene) within one linkage disequilibrium (LD) block including the\n GWA SNP rendering the lowest p-value (rs1121980; log-additive model: nominal\n p = 1.13 x 10(-7), corrected p = 0.0494; odds ratio (OR)(CT) 1.67, 95%\n confidence interval (CI) 1.22-2.27; OR(TT) 2.76, 95% CI 1.88-4.03) belonged\n to the 15 SNPs showing the strongest evidence for association with obesity.\n For confirmation we genotyped 11 of these in the 644 independent families (of\n the six FTO SNPs we chose only two representing the LD bock). For both FTO\n SNPs the initial association was confirmed (both Bonferroni corrected\n p<0.01). However, none of the nine non-FTO SNPs revealed significant\n transmission disequilibrium. CONCLUSIONS/SIGNIFICANCE: Our GWA for extreme\n early onset obesity substantiates that variation in FTO strongly contributes\n to early onset obesity. This is a further proof of concept for GWA to detect\n genes relevant for highly complex phenotypes. We concurrently show that nine\n additional SNPs with initially low p-values in the GWA were not confirmed in\n our family study, thus suggesting that of the best 15 SNPs in the GWA only\n the FTO SNPs represent true positive findings.", "journal": {"name": "PLoS One", "impact_factor": 0.0}, "refcount": 168, "pubmed_id": "18159244", "published_on": "2007-12-26", "metadata": "{u'essn': u'1932-6203', u'pages': u'e1361', u'locationlabel': u'', u'pubdate': u'2007 Dec 26', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'12', u'booktitle': u'', u'epubdate': u'2007 Dec 26', u'sorttitle': u'genome wide association gwa study for early onset extreme obesity supports the role of fat mass and obesity associated gene fto variants', u'lastauthor': u'Hebebrand J', u'title': u'Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.', u'fulljournalname': u'PloS one', u'publisherlocation': u'', u'sortfirstauthor': u'Hinney A', u'sortpubdate': u'2007/12/26 00:00', u'uid': u'18159244', u'pmcrefcount': 168, u'pubstatus': u'3', u'history': [{u'pubstatus': u'received', u'date': u'2007/07/12 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/12/04 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2007/12/27 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/08/09 09:00'}, {u'pubstatus': u'entrez', u'date': u'2007/12/27 09:00'}], u'issn': u'', u'nlmuniqueid': u'101285081', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'', u'authors': [{u'name': u'Hinney A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nguyen TT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Scherag A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Friedel S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Br\\xf6nner G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'M\\xfcller TD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Grallert H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Illig T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wichmann HE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rief W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sch\\xe4fer H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hebebrand J', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'PLoS One', u'chapter': u'', u'articleids': [{u'value': u'18159244', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'10.1371/journal.pone.0001361', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2137937', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'18159244', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18159244', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2137937;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'2'}", "phenotypes": [{"body_part": "weight", "fun": false, "description": "Obesity (early onset extreme)", "rsid": "1121980"}], "chrom": "16", "pos": 53809247, "personal": false}, {"title": "Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.", "authors": "Wallace C", "abstract": "Many common diseases are accompanied by disturbances in\n biochemical traits. Identifying the genetic determinants could provide novel\n insights into disease mechanisms and reveal avenues for developing new\n therapies. Here, we report a genome-wide association analysis for commonly\n measured serum and urine biochemical traits. As part of the WTCCC, 500,000\n SNPs genome wide were genotyped in 1955 hypertensive individuals\n characterized for 25 serum and urine biochemical traits. For each trait, we\n assessed association with individual SNPs, adjusting for age, sex, and BMI.\n Lipid measurements were further examined in a meta-analysis of genome-wide\n data from a type 2 diabetes scan. The most promising associations were\n examined in two epidemiological cohorts. We discovered association between\n serum urate and SLC2A9, a glucose transporter (p = 2 x 10(-15)) and confirmed\n this in two independent cohorts, GRAPHIC study (p = 9 x 10(-15)) and TwinsUK\n (p = 8 x 10(-19)). The odds ratio for hyperuricaemia (defined as urate >0.4\n mMol/l) is 1.89 (95% CI = 1.36-2.61) per copy of common allele. We also\n replicated many genes previously associated with serum lipids and found\n previously recognized association between LDL levels and SNPs close to genes\n encoding PSRC1 and CELSR2 (p = 1 x 10(-7)). The common allele was associated\n with a 6% increase in nonfasting serum LDL. This region showed increased\n association in the meta-analysis (p = 4 x 10(-14)). This finding provides a\n potential biological mechanism for the recent association of this same allele\n of the same SNP with increased risk of coronary disease.", "journal": {"name": "Am J Hum Genet", "impact_factor": 0.0}, "refcount": 173, "pubmed_id": "18179892", "published_on": "2008-01-10", "metadata": "{u'essn': u'1537-6605', u'pages': u'139-49', u'locationlabel': u'', u'pubdate': u'2008 Jan', u'medium': u'', u'pubtype': [u'Journal Article', u'Meta-Analysis'], u'availablefromurl': u'', u'issue': u'1', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'genome wide association study identifies genes for biomarkers of cardiovascular disease serum urate and dyslipidemia', u'lastauthor': u'Munroe PB', u'title': u'Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.', u'fulljournalname': u'American journal of human genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Wallace C', u'sortpubdate': u'2008/01/01 00:00', u'uid': u'18179892', u'pmcrefcount': 173, u'pubstatus': u'4', u'history': [{u'pubstatus': u'received', u'date': u'2007/09/18 00:00'}, {u'pubstatus': u'revised', u'date': u'2007/10/25 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/11/05 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/01/09 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/01/31 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/01/09 09:00'}], u'issn': u'0002-9297', u'nlmuniqueid': u'0370475', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1016/j.ajhg.2007.11.001', u'authors': [{u'name': u'Wallace C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Newhouse SJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Braund P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zhang F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tobin M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Falchi M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ahmadi K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dobson RJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mar\\xe7ano AC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hajat C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Burton P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Deloukas P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Brown M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Connell JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dominiczak A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lathrop GM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Webster J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Farrall M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Spector T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Samani NJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Caulfield MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Munroe PB', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Am J Hum Genet', u'chapter': u'', u'articleids': [{u'value': u'18179892', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'S0002-9297(07)00026-2', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1016/j.ajhg.2007.11.001', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2253977', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'18179892', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18179892', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2253977;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'82'}", "phenotypes": [{"body_part": "heart", "fun": false, "description": "LDL cholesterol", "rsid": "599839"}, {"body_part": "heart", "fun": false, "description": "LDL cholesterol", "rsid": "6589566"}, {"body_part": "heart", "fun": false, "description": "LDL cholesterol", "rsid": "780094"}, {"body_part": "", "fun": false, "description": "Urate levels", "rsid": "7442295"}], "chrom": "1", "pos": 109822166, "personal": false}, {"title": "Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.", "authors": "Kooner JS", "abstract": "We tested over 267,000 SNPs in 1,005 Northern Europeans and\n 248,000 in 1,006 Indian Asians for association with triglycerides and HDL\n cholesterol, with replication in 10,536 subjects. We found association of a\n nonsynonymous SNP (rs3812316, G771C, Gln241His) in MLXIPL with plasma\n triglyceride levels (combined P = 1.4 x 10(-10)). MLXIPL coordinates\n transcriptional regulation of enzymes that channel glycolytic end-products\n into lipogenesis and energy storage, making MLXIPL a plausible 'thrifty gene'.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 116, "pubmed_id": "18193046", "published_on": "2008-01-13", "metadata": "{u'essn': u'1546-1718', u'pages': u'149-51', u'locationlabel': u'', u'pubdate': u'2008 Feb', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'2', u'booktitle': u'', u'epubdate': u'2008 Jan 13', u'sorttitle': u'genome wide scan identifies variation in mlxipl associated with plasma triglycerides', u'lastauthor': u'Thompson JF', u'title': u'Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Kooner JS', u'sortpubdate': u'2008/02/01 00:00', u'uid': u'18193046', u'pmcrefcount': 116, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/08/02 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/11/02 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/01/15 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/02/27 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/01/15 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18227868, u'refsource': u'Nat Genet. 2008 Feb;40(2):129-30', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.2007.61', u'authors': [{u'name': u'Kooner JS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chambers JC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Aguilar-Salinas CA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hinds DA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hyde CL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Warnes GR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'G\\xf3mez P\\xe9rez FJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Frazer KA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Elliott P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Scott J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Milos PM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cox DR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thompson JF', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18193046', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.2007.61', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.2007.61', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18193046', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18193046', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "3812316"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "1558861"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "326"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "2075292"}], "chrom": "7", "pos": 73020337, "personal": false}, {"title": "Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.", "authors": "Kathiresan S DUP", "abstract": "Blood concentrations of lipoproteins and lipids are heritable\n risk factors for cardiovascular disease. Using genome-wide association data\n from three studies (n = 8,816 that included 2,758 individuals from the\n Diabetes Genetics Initiative specific to the current paper as well as 1,874\n individuals from the FUSION study of type 2 diabetes and 4,184 individuals\n from the SardiNIA study of aging-associated variables reported in a companion\n paper in this issue) and targeted replication association analyses in up to\n 18,554 independent participants, we show that common SNPs at 18 loci are\n reproducibly associated with concentrations of low-density lipoprotein (LDL)\n cholesterol, high-density lipoprotein (HDL) cholesterol, and/or\n triglycerides. Six of these loci are new (P < 5 x 10(-8) for each new locus).\n Of the six newly identified chromosomal regions, two were associated with LDL\n cholesterol (1p13 near CELSR2, PSRC1 and SORT1 and 19p13 near CILP2 and\n PBX4), one with HDL cholesterol (1q42 in GALNT2) and five with triglycerides\n (7q11 near TBL2 and MLXIPL, 8q24 near TRIB1, 1q42 in GALNT2, 19p13 near CILP2\n and PBX4 and 1p31 near ANGPTL3). At 1p13, the LDL-associated SNP was also\n strongly correlated with CELSR2, PSRC1, and SORT1 transcript levels in human\n liver, and a proxy for this SNP was recently shown to affect risk for\n coronary artery disease. Understanding the molecular, cellular and clinical\n consequences of the newly identified loci may inform therapy and clinical\n care.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 475, "pubmed_id": "18193044", "published_on": "2008-01-13", "metadata": "{u'essn': u'1546-1718', u'pages': u'189-97', u'locationlabel': u'', u'pubdate': u'2008 Feb', u'medium': u'', u'pubtype': [u'Journal Article', u'Meta-Analysis'], u'availablefromurl': u'', u'issue': u'2', u'booktitle': u'', u'epubdate': u'2008 Jan 13', u'sorttitle': u'six new loci associated with blood low density lipoprotein cholesterol high density lipoprotein cholesterol or triglycerides in humans', u'lastauthor': u'Orho-Melander M', u'title': u'Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Kathiresan S', u'sortpubdate': u'2008/02/01 00:00', u'uid': u'18193044', u'pmcrefcount': 475, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/10/03 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/12/07 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/01/15 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/02/27 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/01/15 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18227868, u'refsource': u'Nat Genet. 2008 Feb;40(2):129-30', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': u'', u'refsource': u'Nat Genet. 2008 Nov;40(11):1384', u'reftype': u'Erratum in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.75', u'authors': [{u'name': u'Kathiresan S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Melander O', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Guiducci C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Surti A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Burtt NP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rieder MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cooper GM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Roos C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Voight BF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Havulinna AS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wahlstrand B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hedner T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Corella D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tai ES', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ordovas JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Berglund G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vartiainen E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jousilahti P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hedblad B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Taskinen MR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Newton-Cheh C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Salomaa V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Peltonen L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Groop L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Altshuler DM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Orho-Melander M', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18193044', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.75', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.75', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2682493', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'UKMS4356', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18193044', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18193044', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2682493;manuscript-id: UKMS4356;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "heart", "fun": false, "description": "HDL cholesterol", "rsid": "4846914"}, {"body_part": "heart", "fun": false, "description": "HDL cholesterol", "rsid": "3890182"}, {"body_part": "heart", "fun": false, "description": "HDL cholesterol", "rsid": "1800775"}, {"body_part": "heart", "fun": false, "description": "HDL cholesterol", "rsid": "1800588"}, {"body_part": "heart", "fun": false, "description": "HDL cholesterol", "rsid": "328"}, {"body_part": "heart", "fun": false, "description": "LDL cholesterol", "rsid": "646776"}, {"body_part": "heart", "fun": false, "description": "LDL cholesterol", "rsid": "16996148"}, {"body_part": "heart", "fun": false, "description": "LDL cholesterol", "rsid": "4420638"}, {"body_part": "heart", "fun": false, "description": "LDL cholesterol", "rsid": "6511720"}, {"body_part": "heart", "fun": false, "description": "LDL cholesterol", "rsid": "11591147"}, {"body_part": "heart", "fun": false, "description": "LDL cholesterol", "rsid": "12654264"}, {"body_part": "heart", "fun": false, "description": "LDL cholesterol", "rsid": "693"}, {"body_part": "heart", "fun": false, "description": "HDL cholesterol", "rsid": "2156552"}], "chrom": "1", "pos": 230295691, "personal": false}, {"title": "Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.", "authors": "Kathiresan S", "abstract": "Blood concentrations of lipoproteins and lipids are heritable\n risk factors for cardiovascular disease. Using genome-wide association data\n from three studies (n = 8,816 that included 2,758 individuals from the\n Diabetes Genetics Initiative specific to the current paper as well as 1,874\n individuals from the FUSION study of type 2 diabetes and 4,184 individuals\n from the SardiNIA study of aging-associated variables reported in a companion\n paper in this issue) and targeted replication association analyses in up to\n 18,554 independent participants, we show that common SNPs at 18 loci are\n reproducibly associated with concentrations of low-density lipoprotein (LDL)\n cholesterol, high-density lipoprotein (HDL) cholesterol, and/or\n triglycerides. Six of these loci are new (P < 5 x 10(-8) for each new locus).\n Of the six newly identified chromosomal regions, two were associated with LDL\n cholesterol (1p13 near CELSR2, PSRC1 and SORT1 and 19p13 near CILP2 and\n PBX4), one with HDL cholesterol (1q42 in GALNT2) and five with triglycerides\n (7q11 near TBL2 and MLXIPL, 8q24 near TRIB1, 1q42 in GALNT2, 19p13 near CILP2\n and PBX4 and 1p31 near ANGPTL3). At 1p13, the LDL-associated SNP was also\n strongly correlated with CELSR2, PSRC1, and SORT1 transcript levels in human\n liver, and a proxy for this SNP was recently shown to affect risk for\n coronary artery disease. Understanding the molecular, cellular and clinical\n consequences of the newly identified loci may inform therapy and clinical\n care.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 475, "pubmed_id": "18193044", "published_on": "2008-01-13", "metadata": "{u'essn': u'1546-1718', u'pages': u'189-97', u'locationlabel': u'', u'pubdate': u'2008 Feb', u'medium': u'', u'pubtype': [u'Journal Article', u'Meta-Analysis'], u'availablefromurl': u'', u'issue': u'2', u'booktitle': u'', u'epubdate': u'2008 Jan 13', u'sorttitle': u'six new loci associated with blood low density lipoprotein cholesterol high density lipoprotein cholesterol or triglycerides in humans', u'lastauthor': u'Orho-Melander M', u'title': u'Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Kathiresan S', u'sortpubdate': u'2008/02/01 00:00', u'uid': u'18193044', u'pmcrefcount': 475, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/10/03 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/12/07 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/01/15 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/02/27 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/01/15 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18227868, u'refsource': u'Nat Genet. 2008 Feb;40(2):129-30', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': u'', u'refsource': u'Nat Genet. 2008 Nov;40(11):1384', u'reftype': u'Erratum in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.75', u'authors': [{u'name': u'Kathiresan S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Melander O', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Guiducci C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Surti A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Burtt NP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rieder MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cooper GM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Roos C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Voight BF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Havulinna AS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wahlstrand B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hedner T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Corella D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tai ES', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ordovas JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Berglund G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vartiainen E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jousilahti P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hedblad B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Taskinen MR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Newton-Cheh C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Salomaa V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Peltonen L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Groop L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Altshuler DM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Orho-Melander M', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18193044', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.75', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.75', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2682493', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'UKMS4356', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18193044', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18193044', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2682493;manuscript-id: UKMS4356;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "17145738"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "17321515"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "16996148"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "12130333"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "28927680"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "693"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "328"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "4846914"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "780094"}], "chrom": "7", "pos": 72982874, "personal": false}, {"title": "Common variants in the GDF5-UQCC region are associated with variation in human height.", "authors": "Sanna S", "abstract": "Identifying genetic variants that influence human height will\n advance our understanding of skeletal growth and development. Several rare\n genetic variants have been convincingly and reproducibly associated with\n height in mendelian syndromes, and common variants in the transcription\n factor gene HMGA2 are associated with variation in height in the general\n population. Here we report genome-wide association analyses, using genotyped\n and imputed markers, of 6,669 individuals from Finland and Sardinia, and\n follow-up analyses in an additional 28,801 individuals. We show that common\n variants in the osteoarthritis-associated locus GDF5-UQCC contribute to\n variation in height with an estimated additive effect of 0.44 cm (overall P <\n 10(-15)). Our results indicate that there may be a link between the genetic\n basis of height and osteoarthritis, potentially mediated through alterations\n in bone growth and development.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 145, "pubmed_id": "18193045", "published_on": "2008-01-13", "metadata": "{u'essn': u'1546-1718', u'pages': u'198-203', u'locationlabel': u'', u'pubdate': u'2008 Feb', u'medium': u'', u'pubtype': [u'Journal Article', u'Meta-Analysis'], u'availablefromurl': u'', u'issue': u'2', u'booktitle': u'', u'epubdate': u'2008 Jan 13', u'sorttitle': u'common variants in the gdf5 uqcc region are associated with variation in human height', u'lastauthor': u'Mohlke KL', u'title': u'Common variants in the GDF5-UQCC region are associated with variation in human height.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Sanna S', u'sortpubdate': u'2008/02/01 00:00', u'uid': u'18193045', u'pmcrefcount': 145, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/09/19 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/11/29 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/01/15 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/02/27 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/01/15 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.74', u'authors': [{u'name': u'Sanna S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jackson AU', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nagaraja R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Willer CJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chen WM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bonnycastle LL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Shen H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Timpson N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lettre G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Usala G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chines PS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stringham HM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Scott LJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dei M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lai S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Albai G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Crisponi L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Naitza S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Doheny KF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pugh EW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ben-Shlomo Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ebrahim S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lawlor DA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bergman RN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Watanabe RM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Uda M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tuomilehto J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Coresh J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hirschhorn JN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Shuldiner AR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schlessinger D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Collins FS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Davey Smith G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Boerwinkle E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cao A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Boehnke M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Abecasis GR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mohlke KL', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18193045', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.74', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.74', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2914680', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS92527', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18193045', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18193045', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2914680;manuscript-id: NIHMS92527;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Height", "rsid": "6060369"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "17690232"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "4932217"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "724016"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "10078095"}], "chrom": "20", "pos": 33907161, "personal": false}, {"title": "Newly identified loci that influence lipid concentrations and risk of coronary artery disease.", "authors": "Willer CJ", "abstract": "To identify genetic variants influencing plasma lipid\n concentrations, we first used genotype imputation and meta-analysis to\n combine three genome-wide scans totaling 8,816 individuals and comprising\n 6,068 individuals specific to our study (1,874 individuals from the FUSION\n study of type 2 diabetes and 4,184 individuals from the SardiNIA study of\n aging-associated variables) and 2,758 individuals from the Diabetes Genetics\n Initiative, reported in a companion study in this issue. We subsequently\n examined promising signals in 11,569 additional individuals. Overall, we\n identify strongly associated variants in eleven loci previously implicated in\n lipid metabolism (ABCA1, the APOA5-APOA4-APOC3-APOA1 and APOE-APOC clusters,\n APOB, CETP, GCKR, LDLR, LPL, LIPC, LIPG and PCSK9) and also in several newly\n identified loci (near MVK-MMAB and GALNT2, with variants primarily associated\n with high-density lipoprotein (HDL) cholesterol; near SORT1, with variants\n primarily associated with low-density lipoprotein (LDL) cholesterol; near\n TRIB1, MLXIPL and ANGPTL3, with variants primarily associated with\n triglycerides; and a locus encompassing several genes near NCAN, with\n variants strongly associated with both triglycerides and LDL cholesterol).\n Notably, the 11 independent variants associated with increased LDL\n cholesterol concentrations in our study also showed increased frequency in a\n sample of coronary artery disease cases versus controls.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 592, "pubmed_id": "18193043", "published_on": "2008-01-13", "metadata": "{u'essn': u'1546-1718', u'pages': u'161-9', u'locationlabel': u'', u'pubdate': u'2008 Feb', u'medium': u'', u'pubtype': [u'Journal Article', u'Meta-Analysis'], u'availablefromurl': u'', u'issue': u'2', u'booktitle': u'', u'epubdate': u'2008 Jan 13', u'sorttitle': u'newly identified loci that influence lipid concentrations and risk of coronary artery disease', u'lastauthor': u'Abecasis GR', u'title': u'Newly identified loci that influence lipid concentrations and risk of coronary artery disease.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Willer CJ', u'sortpubdate': u'2008/02/01 00:00', u'uid': u'18193043', u'pmcrefcount': 592, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/10/03 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/12/07 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/01/15 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/02/27 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/01/15 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18227868, u'refsource': u'Nat Genet. 2008 Feb;40(2):129-30', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.76', u'authors': [{u'name': u'Willer CJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sanna S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jackson AU', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Scuteri A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bonnycastle LL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Clarke R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heath SC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Timpson NJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Najjar SS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stringham HM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Strait J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Duren WL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Maschio A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Busonero F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mulas A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Albai G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Swift AJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Morken MA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Narisu N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bennett D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Parish S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Shen H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Galan P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Meneton P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hercberg S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zelenika D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chen WM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Li Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Scott LJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Scheet PA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sundvall J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Watanabe RM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nagaraja R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ebrahim S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lawlor DA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ben-Shlomo Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Davey-Smith G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Shuldiner AR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Collins R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bergman RN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Uda M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tuomilehto J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cao A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Collins FS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lakatta E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lathrop GM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Boehnke M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schlessinger D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mohlke KL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Abecasis GR', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18193043', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.76', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.76', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC5206900', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS836655', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18193043', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18193043', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC5206900;manuscript-id: NIHMS836655;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "17145738"}, {"body_part": "heart", "fun": false, "description": "LDL cholesterol", "rsid": "2254287"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "780094"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "17321515"}, {"body_part": "heart", "fun": false, "description": "LDL cholesterol", "rsid": "6511720"}, {"body_part": "heart", "fun": false, "description": "LDL cholesterol", "rsid": "11206510"}, {"body_part": "heart", "fun": false, "description": "LDL cholesterol", "rsid": "562338"}, {"body_part": "heart", "fun": false, "description": "LDL cholesterol", "rsid": "16996148"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "4775041"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "12286037"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "10503669"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "2144300"}, {"body_part": "heart", "fun": false, "description": "HDL cholesterol", "rsid": "2156552"}, {"body_part": "heart", "fun": false, "description": "HDL cholesterol", "rsid": "9989419"}, {"body_part": "heart", "fun": false, "description": "HDL cholesterol", "rsid": "2338104"}, {"body_part": "heart", "fun": false, "description": "HDL cholesterol", "rsid": "3764261"}, {"body_part": "heart", "fun": false, "description": "HDL cholesterol", "rsid": "4775041"}, {"body_part": "heart", "fun": false, "description": "HDL cholesterol", "rsid": "4149268"}, {"body_part": "heart", "fun": false, "description": "HDL cholesterol", "rsid": "255052"}, {"body_part": "heart", "fun": false, "description": "HDL cholesterol", "rsid": "10503669"}, {"body_part": "heart", "fun": false, "description": "HDL cholesterol", "rsid": "1864163"}, {"body_part": "heart", "fun": false, "description": "LDL cholesterol", "rsid": "599839"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "1748195"}, {"body_part": "", "fun": false, "description": "Triglycerides", "rsid": "16996148"}, {"body_part": "heart", "fun": false, "description": "LDL cholesterol", "rsid": "4420638"}, {"body_part": "heart", "fun": false, "description": "HDL cholesterol", "rsid": "2144300"}], "chrom": "1", "pos": 109822166, "personal": false}, {"title": "A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study.", "authors": "Hakonarson H", "abstract": "OBJECTIVE: In stage 1 of our genome-wide association (GWA) study\n for type 1 diabetes, one locus at 16p13 was detected (P = 1.03 x 10(-10)) and\n confirmed in two additional cohorts. Here we describe the results of testing,\n in these additional cohorts, 23 loci that were next in rank of statistical\n significance. RESEARCH DESIGN AND METHODS: Two independent cohorts were\n studied. The Type 1 Diabetes Genetics Consortium replication cohort consisted\n of 549 families with at least one child diagnosed with diabetes (946 total\n affected) and DNA from both parents. The Canadian replication cohort\n consisted of 364 nuclear family trios with one type 1 diabetes-affected\n offspring and two parents (1,092 individuals). RESULTS: One locus at 12q13,\n with the highest statistical significance among the 23, was confirmed. It\n involves type 1 diabetes association with the minor allele of rs1701704 (P =\n 9.13 x 10(-10), OR 1.25 [95% CI 1.12-1.40]). CONCLUSIONS: We have discovered\n a type 1 diabetes locus at 12q13 that is replicated in an independent cohort\n of type 1 diabetic patients and confers a type 1 diabetes risk comparable\n with that of the 16p13 locus we recently reported. These two loci are\n identical to two loci identified by the whole-genome association study of the\n Wellcome Trust Case-Control Consortium, a parallel independent discovery that\n adds further support to the validity of the GWA approach.", "journal": {"name": "Diabetes", "impact_factor": 0.0}, "refcount": 48, "pubmed_id": "18198356", "published_on": "2008-01-15", "metadata": "{u'essn': u'1939-327X', u'pages': u'1143-6', u'locationlabel': u'', u'pubdate': u'2008 Apr', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'4', u'booktitle': u'', u'epubdate': u'2008 Jan 15', u'sorttitle': u'novel susceptibility locus for type 1 diabetes on chr12q13 identified by a genome wide association study', u'lastauthor': u'Polychronakos C', u'title': u'A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study.', u'fulljournalname': u'Diabetes', u'publisherlocation': u'', u'sortfirstauthor': u'Hakonarson H', u'sortpubdate': u'2008/04/01 00:00', u'uid': u'18198356', u'pmcrefcount': 48, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2008/01/17 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/04/26 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/01/17 09:00'}], u'issn': u'0012-1797', u'nlmuniqueid': u'0372763', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.2337/db07-1305', u'authors': [{u'name': u'Hakonarson H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Qu HQ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bradfield JP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Marchand L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kim CE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Glessner JT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Grabs R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Casalunovo T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Taback SP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Frackelton EC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Eckert AW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Annaiah K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lawson ML', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Otieno FG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Santa E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Shaner JL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Smith RM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Onyiah CC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Skraban R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chiavacci RM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Robinson LJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stanley CA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kirsch SE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Devoto M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Monos DS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Grant SF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Polychronakos C', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Diabetes', u'chapter': u'', u'articleids': [{u'value': u'18198356', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'db07-1305', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.2337/db07-1305', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18198356', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18198356', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'57'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Type 1 diabetes", "rsid": "1701704"}], "chrom": "12", "pos": 56412487, "personal": false}, {"title": "Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.", "authors": "Hom G", "abstract": "Systemic lupus erythematosus (SLE) is a clinically\n heterogeneous disease in which the risk of disease is influenced by complex\n genetic and environmental contributions. Alleles of HLA-DRB1, IRF5, and STAT4\n are established susceptibility genes; there is strong evidence for the\n existence of additional risk loci. METHODS: We genotyped more than 500,000\n single-nucleotide polymorphisms (SNPs) in DNA samples from 1311 case subjects\n with SLE and 1783 control subjects; all subjects were North Americans of\n European descent. Genotypes from 1557 additional control subjects were\n obtained from public data repositories. We measured the association between\n the SNPs and SLE after applying strict quality-control filters to reduce\n technical artifacts and to correct for the presence of population\n stratification. Replication of the top loci was performed in 793 case\n subjects and 857 control subjects from Sweden. RESULTS: Genetic variation in\n the region upstream from the transcription initiation site of the gene\n encoding B lymphoid tyrosine kinase (BLK) and C8orf13 (chromosome 8p23.1) was\n associated with disease risk in both the U.S. and Swedish case-control series\n (rs13277113; odds ratio, 1.39; P=1x10(-10)) and also with altered levels of\n messenger RNA in B-cell lines. In addition, variants on chromosome 16p11.22,\n near the genes encoding integrin alpha M (ITGAM, or CD11b) and integrin alpha\n X (ITGAX), were associated with SLE in the combined sample (rs11574637; odds\n ratio, 1.33; P=3x10(-11)). CONCLUSIONS: We identified and then confirmed\n through replication two new genetic loci for SLE: a promoter-region allele\n associated with reduced expression of BLK and increased expression of C8orf13\n and variants in the ITGAM-ITGAX region.", "journal": {"name": "N Engl J Med", "impact_factor": 0.0}, "refcount": 278, "pubmed_id": "18204098", "published_on": "2008-01-20", "metadata": "{u'essn': u'1533-4406', u'pages': u'900-9', u'locationlabel': u'', u'pubdate': u'2008 Feb 28', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'9', u'booktitle': u'', u'epubdate': u'2008 Jan 20', u'sorttitle': u'association of systemic lupus erythematosus with c8orf13 blk and itgam itgax', u'lastauthor': u'Behrens TW', u'title': u'Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.', u'fulljournalname': u'The New England journal of medicine', u'publisherlocation': u'', u'sortfirstauthor': u'Hom G', u'sortpubdate': u'2008/02/28 00:00', u'uid': u'18204098', u'pmcrefcount': 278, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2008/01/22 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/03/05 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/01/22 09:00'}], u'issn': u'0028-4793', u'nlmuniqueid': u'0255562', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18204099, u'refsource': u'N Engl J Med. 2008 Feb 28;358(9):956-61', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1056/NEJMoa0707865', u'authors': [{u'name': u'Hom G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Graham RR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Modrek B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Taylor KE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ortmann W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Garnier S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lee AT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chung SA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ferreira RC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pant PV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ballinger DG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kosoy R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Demirci FY', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kamboh MI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kao AH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tian C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gunnarsson I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bengtsson AA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rantap\\xe4\\xe4-Dahlqvist S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Petri M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Manzi S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Seldin MF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'R\\xf6nnblom L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Syv\\xe4nen AC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Criswell LA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gregersen PK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Behrens TW', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'N Engl J Med', u'chapter': u'', u'articleids': [{u'value': u'18204098', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'NEJMoa0707865', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1056/NEJMoa0707865', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18204098', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18204098', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'358'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Systemic lupus erythematosus", "rsid": "13277113"}, {"body_part": "", "fun": false, "description": "Systemic lupus erythematosus", "rsid": "11574637"}, {"body_part": "", "fun": false, "description": "Systemic lupus erythematosus", "rsid": "11243676"}, {"body_part": "", "fun": false, "description": "Systemic lupus erythematosus", "rsid": "979233"}, {"body_part": "", "fun": false, "description": "Systemic lupus erythematosus", "rsid": "17083844"}, {"body_part": "", "fun": false, "description": "Systemic lupus erythematosus", "rsid": "2187668"}, {"body_part": "", "fun": false, "description": "Systemic lupus erythematosus", "rsid": "10488631"}, {"body_part": "", "fun": false, "description": "Systemic lupus erythematosus", "rsid": "7574865"}, {"body_part": "", "fun": false, "description": "Systemic lupus erythematosus", "rsid": "12141391"}], "chrom": "8", "pos": 11349186, "personal": false}, {"title": "Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.", "authors": "Harley JB", "abstract": "Systemic lupus erythematosus (SLE) is a common systemic\n autoimmune disease with complex etiology but strong clustering in families\n (lambda(S) = approximately 30). We performed a genome-wide association scan\n using 317,501 SNPs in 720 women of European ancestry with SLE and in 2,337\n controls, and we genotyped consistently associated SNPs in two additional\n independent sample sets totaling 1,846 affected women and 1,825 controls.\n Aside from the expected strong association between SLE and the HLA region on\n chromosome 6p21 and the previously confirmed non-HLA locus IRF5 on chromosome\n 7q32, we found evidence of association with replication (1.1 x 10(-7) <\n P(overall) < 1.6 x 10(-23); odds ratio = 0.82-1.62) in four regions: 16p11.2\n (ITGAM), 11p15.5 (KIAA1542), 3p14.3 (PXK) and 1q25.1 (rs10798269). We also\n found evidence for association (P < 1 x 10(-5)) at FCGR2A, PTPN22 and STAT4,\n regions previously associated with SLE and other autoimmune diseases, as well\n as at > or =9 other loci (P < 2 x 10(-7)). Our results show that numerous\n genes, some with known immune-related functions, predispose to SLE.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 428, "pubmed_id": "18204446", "published_on": "2008-01-20", "metadata": "{u'essn': u'1546-1718', u'pages': u'204-10', u'locationlabel': u'', u'pubdate': u'2008 Feb', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'2', u'booktitle': u'', u'epubdate': u'2008 Jan 20', u'sorttitle': u'genome wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in itgam pxk kiaa1542 and other loci', u'lastauthor': u'Kelly JA', u'title': u'Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Harley JB', u'sortpubdate': u'2008/02/01 00:00', u'uid': u'18204446', u'pmcrefcount': 428, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/10/02 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/12/18 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/01/22 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/02/27 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/01/22 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18227869, u'refsource': u'Nat Genet. 2008 Feb;40(2):131-2', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.81', u'authors': [{u'name': u'International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN).', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Harley JB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Alarc\\xf3n-Riquelme ME', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Criswell LA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jacob CO', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kimberly RP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Moser KL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tsao BP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vyse TJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Langefeld CD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nath SK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Guthridge JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cobb BL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mirel DB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Marion MC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Williams AH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Divers J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wang W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Frank SG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Namjou B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gabriel SB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lee AT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gregersen PK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Behrens TW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Taylor KE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fernando M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zidovetzki R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gaffney PM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Edberg JC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rioux JD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ojwang JO', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'James JA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Merrill JT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gilkeson GS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Seldin MF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yin H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Baechler EC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Li QZ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wakeland EK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bruner GR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kaufman KM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kelly JA', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18204446', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.81', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.81', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC3712260', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'EMS53768', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18204446', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18204446', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC3712260;manuscript-id: EMS53768;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Systemic lupus erythematosus", "rsid": "4963128"}, {"body_part": "", "fun": false, "description": "Systemic lupus erythematosus", "rsid": "6445975"}, {"body_part": "", "fun": false, "description": "Systemic lupus erythematosus", "rsid": "10798269"}, {"body_part": "", "fun": false, "description": "Systemic lupus erythematosus", "rsid": "12537284"}, {"body_part": "", "fun": false, "description": "Systemic lupus erythematosus", "rsid": "9888739"}, {"body_part": "", "fun": false, "description": "Systemic lupus erythematosus", "rsid": "3131379"}], "chrom": "16", "pos": 31313253, "personal": false}, {"title": "Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.", "authors": "Kozyrev SV", "abstract": "Systemic lupus erythematosus (SLE) is a prototypical autoimmune\n disease characterized by production of autoantibodies and complex genetic\n inheritance. In a genome-wide scan using 85,042 SNPs, we identified an\n association between SLE and a nonsynonymous substitution (rs10516487, R61H)\n in the B-cell scaffold protein with ankyrin repeats gene, BANK1. We\n replicated the association in four independent case-control sets (combined P\n = 3.7 x 10(-10); OR = 1.38). We analyzed BANK1 cDNA and found two isoforms,\n one full-length and the other alternatively spliced and lacking exon 2\n (Delta2), encoding a protein without a putative IP3R-binding domain. The\n transcripts were differentially expressed depending on a branch point-site\n SNP, rs17266594, in strong linkage disequilibrium (LD) with rs10516487. A\n third associated variant was found in the ankyrin domain (rs3733197, A383T).\n Our findings implicate BANK1 as a susceptibility gene for SLE, with variants\n affecting regulatory sites and key functional domains. The disease-associated\n variants could contribute to sustained B cell-receptor signaling and B-cell\n hyperactivity characteristic of this disease.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 147, "pubmed_id": "18204447", "published_on": "2008-01-20", "metadata": "{u'essn': u'1546-1718', u'pages': u'211-6', u'locationlabel': u'', u'pubdate': u'2008 Feb', u'medium': u'', u'pubtype': [u'Journal Article', u'Meta-Analysis'], u'availablefromurl': u'', u'issue': u'2', u'booktitle': u'', u'epubdate': u'2008 Jan 20', u'sorttitle': u'functional variants in the b cell gene bank1 are associated with systemic lupus erythematosus', u'lastauthor': u'Alarc\\xf3n-Riquelme ME', u'title': u'Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Kozyrev SV', u'sortpubdate': u'2008/02/01 00:00', u'uid': u'18204447', u'pmcrefcount': 147, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/09/04 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/12/12 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/01/22 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/02/27 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/01/22 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18227869, u'refsource': u'Nat Genet. 2008 Feb;40(2):131-2', u'reftype': u'Comment in'}, {u'note': u'Barrizzone, Nadia [corrected to Barizzone, Nadia]', u'pmid': u'', u'refsource': u'Nat Genet. 2008 Apr;40(4):484', u'reftype': u'Erratum in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.79', u'authors': [{u'name': u'Kozyrev SV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Abelson AK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wojcik J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zaghlool A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Linga Reddy MV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sanchez E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gunnarsson I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Svenungsson E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sturfelt G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'J\\xf6nsen A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Truedsson L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pons-Estel BA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Witte T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"D'Alfonso S\", u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barizzone N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Danieli MG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gutierrez C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Suarez A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Junker P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Laustrup H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gonz\\xe1lez-Escribano MF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Martin J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Abderrahim H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Alarc\\xf3n-Riquelme ME', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18204447', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.79', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.79', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18204447', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18204447', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Systemic lupus erythematosus", "rsid": "10516487"}], "chrom": "4", "pos": 102751076, "personal": false}, {"title": "Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.", "authors": "Kayser M", "abstract": "Human iris color was one of the first traits for which Mendelian\n segregation was established. To date, the genetics of iris color is still not\n fully understood and is of interest, particularly in view of forensic\n applications. In three independent genome-wide association (GWA) studies of a\n total of 1406 persons and a genome-wide linkage study of 1292 relatives, all\n from the Netherlands, we found that the 15q13.1 region is the predominant\n region involved in human iris color. There were no other regions showing\n consistent genome-wide evidence for association and linkage to iris color.\n Single nucleotide polymorphisms (SNPs) in the HERC2 gene and, to a lesser\n extent, in the neighboring OCA2 gene were independently associated to iris\n color variation. OCA2 has been implicated in iris color previously. A\n replication study within two populations confirmed that the HERC2 gene is a\n new and significant determinant of human iris color variation, in addition to\n OCA2. Furthermore, HERC2 rs916977 showed a clinal allele distribution across\n 23 European populations, which was significantly correlated to iris color\n variation. We suggest that genetic variants regulating expression of the OCA2\n gene exist in the HERC2 gene or, alternatively, within the 11.7 kb of\n sequence between OCA2 and HERC2, and that most iris color variation in\n Europeans is explained by those two genes. Testing markers in the HERC2-OCA2\n region may be useful in forensic applications to predict eye color phenotypes\n of unknown persons of European genetic origin.", "journal": {"name": "Am J Hum Genet", "impact_factor": 0.0}, "refcount": 57, "pubmed_id": "18252221", "published_on": "2008-01-24", "metadata": "{u'essn': u'1537-6605', u'pages': u'411-23', u'locationlabel': u'', u'pubdate': u'2008 Feb', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'2', u'booktitle': u'', u'epubdate': u'2008 Jan 25', u'sorttitle': u'three genome wide association studies and a linkage analysis identify herc2 as a human iris color gene', u'lastauthor': u'van Duijn CM', u'title': u'Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.', u'fulljournalname': u'American journal of human genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Kayser M', u'sortpubdate': u'2008/02/01 00:00', u'uid': u'18252221', u'pmcrefcount': 57, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/08/31 00:00'}, {u'pubstatus': u'revised', u'date': u'2007/10/05 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/10/18 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/02/07 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/03/18 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/02/07 09:00'}], u'issn': u'0002-9297', u'nlmuniqueid': u'0370475', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': u'', u'refsource': u'Am J Hum Genet. 2008 Mar;82(3):801', u'reftype': u'Erratum in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1016/j.ajhg.2007.10.003', u'authors': [{u'name': u'Kayser M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Liu F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Janssens AC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rivadeneira F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lao O', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'van Duijn K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vermeulen M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Arp P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jhamai MM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'van Ijcken WF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'den Dunnen JT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heath S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zelenika D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Despriet DD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Klaver CC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vingerling JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'de Jong PT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hofman A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Aulchenko YS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Uitterlinden AG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Oostra BA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'van Duijn CM', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Am J Hum Genet', u'chapter': u'', u'articleids': [{u'value': u'18252221', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'S0002-9297(08)00074-8', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1016/j.ajhg.2007.10.003', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2427174', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'18252221', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18252221', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2427174;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'82'}", "phenotypes": [{"body_part": "", "fun": true, "description": "Iris color", "rsid": "916977"}], "chrom": "15", "pos": 28513364, "personal": false}, {"title": "Sequence variants in the RNF212 gene associate with genome-wide recombination rate.", "authors": "Kong A", "abstract": "The genome-wide recombination rate varies between individuals,\n but the mechanism controlling this variation in humans has remained elusive.\n A genome-wide search identified sequence variants in the 4p16.3 region\n correlated with recombination rate in both males and females. These variants\n are located in the RNF212 gene, a putative ortholog of the ZHP-3 gene that is\n essential for recombinations and chiasma formation in Caenorhabditis elegans.\n It is noteworthy that the haplotype formed by two single-nucleotide\n polymorphisms (SNPs) associated with the highest recombination rate in males\n is associated with a low recombination rate in females. Consequently, if the\n frequency of the haplotype changes, the average recombination rate will\n increase for one sex and decrease for the other, but the sex-averaged\n recombination rate of the population can stay relatively constant.", "journal": {"name": "Science", "impact_factor": 37.205}, "refcount": 75, "pubmed_id": "18239089", "published_on": "2008-02-02", "metadata": "{u'essn': u'1095-9203', u'pages': u'1398-401', u'locationlabel': u'', u'pubdate': u'2008 Mar 7', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5868', u'booktitle': u'', u'epubdate': u'2008 Jan 31', u'sorttitle': u'sequence variants in the rnf212 gene associate with genome wide recombination rate', u'lastauthor': u'Stefansson K', u'title': u'Sequence variants in the RNF212 gene associate with genome-wide recombination rate.', u'fulljournalname': u'Science (New York, N.Y.)', u'publisherlocation': u'', u'sortfirstauthor': u'Kong A', u'sortpubdate': u'2008/03/07 00:00', u'uid': u'18239089', u'pmcrefcount': 75, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2008/02/02 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/03/22 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/02/02 09:00'}], u'issn': u'0036-8075', u'nlmuniqueid': u'0404511', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1126/science.1152422', u'authors': [{u'name': u'Kong A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorleifsson G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansson H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Masson G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Helgason A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudbjartsson DF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonsdottir GM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudjonsson SA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sverrisson S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorlacius T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonasdottir A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hardarson GA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Palsson ST', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Frigge ML', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gulcher JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorsteinsdottir U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansson K', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Science', u'chapter': u'', u'articleids': [{u'value': u'18239089', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1152422', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1126/science.1152422', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18239089', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18239089', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'319'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Recombination rate (females)", "rsid": "1670533"}, {"body_part": "", "fun": false, "description": "Recombination rate (males)", "rsid": "3796619"}], "chrom": "4", "pos": 1078187, "personal": false}, {"title": "Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.", "authors": "Uda M", "abstract": "beta-Thalassemia and sickle cell disease both display a great\n deal of phenotypic heterogeneity, despite being generally thought of as\n simple Mendelian diseases. The reasons for this are not well understood,\n although the level of fetal hemoglobin (HbF) is one well characterized\n ameliorating factor in both of these conditions. To better understand the\n genetic basis of this heterogeneity, we carried out genome-wide scans with\n 362,129 common SNPs on 4,305 Sardinians to look for genetic linkage and\n association with HbF levels, as well as other red blood cell-related traits.\n Among major variants affecting HbF levels, SNP rs11886868 in the BCL11A gene\n was strongly associated with this trait (P < 10(-35)). The C allele frequency\n was significantly higher in Sardinian individuals with elevated HbF levels,\n detected by screening for beta-thalassemia, and patients with attenuated\n forms of beta-thalassemia vs. those with thalassemia major. We also show that\n the same BCL11A variant is strongly associated with HbF levels in a large\n cohort of sickle cell patients. These results indicate that BCL11A variants,\n by modulating HbF levels, act as an important ameliorating factor of the\n beta-thalassemia phenotype, and it is likely they could help ameliorate other\n hemoglobin disorders. We expect our findings will help to characterize the\n molecular mechanisms of fetal globin regulation and could eventually\n contribute to the development of new therapeutic approaches for\n beta-thalassemia and sickle cell anemia.", "journal": {"name": "Proc Natl Acad Sci U S A", "impact_factor": 0.0}, "refcount": 158, "pubmed_id": "18245381", "published_on": "2008-02-05", "metadata": "{u'essn': u'1091-6490', u'pages': u'1620-5', u'locationlabel': u'', u'pubdate': u'2008 Feb 5', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5', u'booktitle': u'', u'epubdate': u'2008 Feb 1', u'sorttitle': u'genome wide association study shows bcl11a associated with persistent fetal hemoglobin and amelioration of the phenotype of beta thalassemia', u'lastauthor': u'Cao A', u'title': u'Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.', u'fulljournalname': u'Proceedings of the National Academy of Sciences of the United States of America', u'publisherlocation': u'', u'sortfirstauthor': u'Uda M', u'sortpubdate': u'2008/02/05 00:00', u'uid': u'18245381', u'pmcrefcount': 158, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2008/02/05 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/03/08 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/02/05 09:00'}], u'issn': u'0027-8424', u'nlmuniqueid': u'7505876', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1073/pnas.0711566105', u'authors': [{u'name': u'Uda M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Galanello R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sanna S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lettre G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sankaran VG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chen W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Usala G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Busonero F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Maschio A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Albai G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Piras MG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sestu N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lai S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dei M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mulas A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Crisponi L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Naitza S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Asunis I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Deiana M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nagaraja R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Perseu L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Satta S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cipollina MD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sollaino C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Moi P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hirschhorn JN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Orkin SH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Abecasis GR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schlessinger D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cao A', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Proc Natl Acad Sci U S A', u'chapter': u'', u'articleids': [{u'value': u'18245381', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'0711566105', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1073/pnas.0711566105', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2234194', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'18245381', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18245381', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2234194;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'105'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Fetal hemoglobin levels", "rsid": "4910742"}, {"body_part": "", "fun": false, "description": "Fetal hemoglobin levels", "rsid": "11886868"}], "chrom": "11", "pos": 5306509, "personal": false}, {"title": "LDL-cholesterol concentrations: a genome-wide association study.", "authors": "Sandhu MS", "abstract": "LDL cholesterol has a causal role in the development\n of cardiovascular disease. Improved understanding of the biological\n mechanisms that underlie the metabolism and regulation of LDL cholesterol\n might help to identify novel therapeutic targets. We therefore did a\n genome-wide association study of LDL-cholesterol concentrations. METHODS: We\n used genome-wide association data from up to 11,685 participants with\n measures of circulating LDL-cholesterol concentrations across five studies,\n including data for 293 461 autosomal single nucleotide polymorphisms (SNPs)\n with a minor allele frequency of 5% or more that passed our quality control\n criteria. We also used data from a second genome-wide array in up to 4337\n participants from three of these five studies, with data for 290,140 SNPs. We\n did replication studies in two independent populations consisting of up to\n 4979 participants. Statistical approaches, including meta-analysis and\n linkage disequilibrium plots, were used to refine association signals; we\n analysed pooled data from all seven populations to determine the effect of\n each SNP on variations in circulating LDL-cholesterol concentrations.\n FINDINGS: In our initial scan, we found two SNPs (rs599839 [p=1.7x10(-15)]\n and rs4970834 [p=3.0x10(-11)]) that showed genome-wide statistical\n association with LDL cholesterol at chromosomal locus 1p13.3. The second\n genome screen found a third statistically associated SNP at the same locus\n (rs646776 [p=4.3x10(-9)]). Meta-analysis of data from all studies showed an\n association of SNPs rs599839 (combined p=1.2x10(-33)) and rs646776\n (p=4.8x10(-20)) with LDL-cholesterol concentrations. SNPs rs599839 and\n rs646776 both explained around 1% of the variation in circulating\n LDL-cholesterol concentrations and were associated with about 15% of an SD\n change in LDL cholesterol per allele, assuming an SD of 1 mmol/L.\n INTERPRETATION: We found evidence for a novel locus for LDL cholesterol on\n chromosome 1p13.3. These results potentially provide insight into the\n biological mechanisms that underlie the regulation of LDL cholesterol and\n might help in the discovery of novel therapeutic targets for cardiovascular\n disease.", "journal": {"name": "Lancet", "impact_factor": 0.0}, "refcount": 135, "pubmed_id": "18262040", "published_on": "2008-02-09", "metadata": "{u'essn': u'1474-547X', u'pages': u'483-91', u'locationlabel': u'', u'pubdate': u'2008 Feb 9', u'medium': u'', u'pubtype': [u'Journal Article', u'Meta-Analysis'], u'availablefromurl': u'', u'issue': u'9611', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'ldl cholesterol concentrations a genome wide association study', u'lastauthor': u'Mooser V', u'title': u'LDL-cholesterol concentrations: a genome-wide association study.', u'fulljournalname': u'Lancet (London, England)', u'publisherlocation': u'', u'sortfirstauthor': u'Sandhu MS', u'sortpubdate': u'2008/02/09 00:00', u'uid': u'18262040', u'pmcrefcount': 135, u'pubstatus': u'4', u'history': [{u'pubstatus': u'pubmed', u'date': u'2008/02/12 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/03/18 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/02/12 09:00'}], u'issn': u'0140-6736', u'nlmuniqueid': u'2985213R', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18262024, u'refsource': u'Lancet. 2008 Feb 9;371(9611):450-2', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1016/S0140-6736(08)60208-1', u'authors': [{u'name': u'Sandhu MS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Waterworth DM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Debenham SL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wheeler E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Papadakis K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zhao JH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Song K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yuan X', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Johnson T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ashford S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Inouye M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Luben R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sims M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hadley D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McArdle W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barter P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kes\\xe4niemi YA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mahley RW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McPherson R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Grundy SM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wellcome Trust Case Control Consortium.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Bingham SA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Khaw KT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Loos RJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Waeber G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barroso I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Strachan DP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Deloukas P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vollenweider P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wareham NJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mooser V', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Lancet', u'chapter': u'', u'articleids': [{u'value': u'18262040', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'S0140-6736(08)60208-1', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1016/S0140-6736(08)60208-1', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2292820', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'18262040', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18262040', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2292820;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'371'}", "phenotypes": [{"body_part": "heart", "fun": false, "description": "LDL cholesterol", "rsid": "599839"}, {"body_part": "heart", "fun": false, "description": "LDL cholesterol", "rsid": "4420638"}, {"body_part": "heart", "fun": false, "description": "LDL cholesterol", "rsid": "562338"}], "chrom": "1", "pos": 109822166, "personal": false}, {"title": "Multiple loci identified in a genome-wide association study of prostate cancer.", "authors": "Thomas G", "abstract": "We followed our initial genome-wide association study (GWAS) of\n 527,869 SNPs on 1,172 individuals with prostate cancer and 1,157 controls of\n European origin-nested in the Prostate, Lung, Colorectal, and Ovarian (PLCO)\n Cancer Screening Trial prospective study-by testing 26,958 SNPs in four\n independent studies (total of 3,941 cases and 3,964 controls). In the\n combined joint analysis, we confirmed three previously reported loci (two\n independent SNPs at 8q24 and one in HNF1B (formerly known as TCF2 on 17q); P\n < 10(-10)). In addition, loci on chromosomes 7, 10 (two loci) and 11 were\n highly significant (between P < 7.31 x 10(-13) and P < 2.14 x 10(-6)). Loci\n on chromosome 10 include MSMB, which encodes beta-microseminoprotein, a\n primary constituent of semen and a proposed prostate cancer biomarker, and\n CTBP2, a gene with antiapoptotic activity; the locus on chromosome 7 is at\n JAZF1, a transcriptional repressor that is fused by chromosome translocation\n to SUZ12 in endometrial cancer. Of the nine loci that showed highly\n suggestive associations (P < 2.5 x 10(-5)), four best fit a recessive model\n and included candidate susceptibility genes: CPNE3, IL16 and CDH13. Our\n findings point to multiple loci with moderate effects associated with\n susceptibility to prostate cancer that, taken together, in the future may\n predict high risk in select individuals.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 404, "pubmed_id": "18264096", "published_on": "2008-02-10", "metadata": "{u'essn': u'1546-1718', u'pages': u'310-5', u'locationlabel': u'', u'pubdate': u'2008 Mar', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'3', u'booktitle': u'', u'epubdate': u'2008 Feb 10', u'sorttitle': u'multiple loci identified in a genome wide association study of prostate cancer', u'lastauthor': u'Chanock SJ', u'title': u'Multiple loci identified in a genome-wide association study of prostate cancer.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Thomas G', u'sortpubdate': u'2008/03/01 00:00', u'uid': u'18264096', u'pmcrefcount': 404, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/11/09 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/12/26 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/02/12 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/04/03 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/02/12 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.91', u'authors': [{u'name': u'Thomas G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jacobs KB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yeager M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kraft P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wacholder S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Orr N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yu K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chatterjee N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Welch R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hutchinson A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Crenshaw A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cancel-Tassin G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Staats BJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wang Z', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gonzalez-Bosquet J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fang J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Deng X', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Berndt SI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Calle EE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Feigelson HS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thun MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rodriguez C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Albanes D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Virtamo J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Weinstein S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schumacher FR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Giovannucci E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Willett WC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cussenot O', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Valeri A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Andriole GL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Crawford ED', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tucker M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gerhard DS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fraumeni JF Jr', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hoover R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hayes RB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hunter DJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chanock SJ', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18264096', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.91', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.91', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18264096', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18264096', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "10993994"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "10896449"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "4962416"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "4242382"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "4430796"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "6983267"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "10486567"}], "chrom": "10", "pos": 51549496, "personal": true}, {"title": "Multiple newly identified loci associated with prostate cancer susceptibility.", "authors": "Eeles RA", "abstract": "Prostate cancer is the most common cancer affecting males in\n developed countries. It shows consistent evidence of familial aggregation,\n but the causes of this aggregation are mostly unknown. To identify common\n alleles associated with prostate cancer risk, we conducted a genome-wide\n association study (GWAS) using blood DNA samples from 1,854 individuals with\n clinically detected prostate cancer diagnosed at </=60 years or with a family\n history of disease, and 1,894 population-screened controls with a low\n prostate-specific antigen (PSA) concentration (<0.5 ng/ml). We analyzed these\n samples for 541,129 SNPs using the Illumina Infinium platform. Initial\n putative associations were confirmed using a further 3,268 cases and 3,366\n controls. We identified seven loci associated with prostate cancer on\n chromosomes 3, 6, 7, 10, 11, 19 and X (P = 2.7 x 10(-8) to P = 8.7 x\n 10(-29)). We confirmed previous reports of common loci associated with\n prostate cancer at 8q24 and 17q. Moreover, we found that three of the newly\n identified loci contain candidate susceptibility genes: MSMB, LMTK2 and KLK3.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 376, "pubmed_id": "18264097", "published_on": "2008-02-10", "metadata": "{u'essn': u'1546-1718', u'pages': u'316-21', u'locationlabel': u'', u'pubdate': u'2008 Mar', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'3', u'booktitle': u'', u'epubdate': u'2008 Feb 10', u'sorttitle': u'multiple newly identified loci associated with prostate cancer susceptibility', u'lastauthor': u'Easton DF', u'title': u'Multiple newly identified loci associated with prostate cancer susceptibility.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Eeles RA', u'sortpubdate': u'2008/03/01 00:00', u'uid': u'18264097', u'pmcrefcount': 376, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/10/12 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/12/22 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/02/12 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/04/03 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/02/12 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 19165914, u'refsource': u'Nat Genet. 2008 Sep;40(9):1032-4; author reply 1035-6', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.90', u'authors': [{u'name': u'Eeles RA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kote-Jarai Z', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Giles GG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Olama AA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Guy M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jugurnauth SK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mulholland S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Leongamornlert DA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Edwards SM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Morrison J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Field HI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Southey MC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Severi G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Donovan JL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hamdy FC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dearnaley DP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Muir KR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Smith C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bagnato M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ardern-Jones AT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hall AL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"O'Brien LT\", u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gehr-Swain BN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wilkinson RA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cox A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lewis S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Brown PM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jhavar SG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tymrakiewicz M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lophatananon A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bryant SL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'UK Genetic Prostate Cancer Study Collaborators.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u\"British Association of Urological Surgeons' Section of Oncology.\", u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'UK ProtecT Study Collaborators.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Horwich A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Huddart RA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Khoo VS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Parker CC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Woodhouse CJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thompson A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Christmas T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ogden C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fisher C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jamieson C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cooper CS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'English DR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hopper JL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Neal DE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Easton DF', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18264097', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.90', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.90', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18264097', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18264097', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "2735839"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "9364554"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "10993994"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "4242384"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "7501939"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "5945619"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "2660753"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "6983267"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "1016343"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "7931342"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "1859962"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "6465657"}], "chrom": "10", "pos": 51549496, "personal": true}, {"title": "Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer.", "authors": "Gudmundsson J", "abstract": "We conducted a genome-wide SNP association study on prostate\n cancer on over 23,000 Icelanders, followed by a replication study including\n over 15,500 individuals from Europe and the United States. Two newly\n identified variants were shown to be associated with prostate cancer:\n rs5945572 on Xp11.22 and rs721048 on 2p15 (odds ratios (OR) = 1.23 and 1.15;\n P = 3.9 x 10(-13) and 7.7 x 10(-9), respectively). The 2p15 variant shows a\n significantly stronger association with more aggressive, rather than less\n aggressive, forms of the disease.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 181, "pubmed_id": "18264098", "published_on": "2008-02-10", "metadata": "{u'essn': u'1546-1718', u'pages': u'281-3', u'locationlabel': u'', u'pubdate': u'2008 Mar', u'medium': u'', u'pubtype': [u'Journal Article', u'Multicenter Study'], u'availablefromurl': u'', u'issue': u'3', u'booktitle': u'', u'epubdate': u'2008 Feb 10', u'sorttitle': u'common sequence variants on 2p15 and xp11 22 confer susceptibility to prostate cancer', u'lastauthor': u'Stefansson K', u'title': u'Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Gudmundsson J', u'sortpubdate': u'2008/03/01 00:00', u'uid': u'18264098', u'pmcrefcount': 181, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/11/14 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/12/27 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/02/12 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/04/03 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/02/12 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.89', u'authors': [{u'name': u'Gudmundsson J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sulem P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rafnar T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bergthorsson JT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Manolescu A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudbjartsson D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Agnarsson BA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sigurdsson A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Benediktsdottir KR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Blondal T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jakobsdottir M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stacey SN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kostic J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kristinsson KT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Birgisdottir B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ghosh S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Magnusdottir DN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorlacius S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorleifsson G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zheng SL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sun J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chang BL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Elmore JB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Breyer JP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McReynolds KM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bradley KM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yaspan BL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wiklund F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stattin P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lindstr\\xf6m S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Adami HO', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McDonnell SK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schaid DJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cunningham JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wang L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cerhan JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'St Sauver JL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Isaacs SD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wiley KE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Partin AW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Walsh PC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Polo S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ruiz-Echarri M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Navarrete S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fuertes F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Saez B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Godino J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Weijerman PC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Swinkels DW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Aben KK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Witjes JA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Suarez BK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Helfand BT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Frigge ML', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kristjansson K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ober C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonsson E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Einarsson GV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Xu J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gronberg H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Smith JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thibodeau SN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Isaacs WB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Catalona WJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mayordomo JI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kiemeney LA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barkardottir RB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gulcher JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorsteinsdottir U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kong A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansson K', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18264098', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.89', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.89', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC3598012', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS371835', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18264098', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18264098', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC3598012;manuscript-id: NIHMS371835;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "5945572"}, {"body_part": "prostate", "fun": false, "description": "Prostate cancer", "rsid": "721048"}], "chrom": "X", "pos": 51229683, "personal": true}, {"title": "Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women.", "authors": "Shifman S", "abstract": "Sex differences in schizophrenia are well known, but their\n genetic basis has not been identified. We performed a genome-wide association\n scan for schizophrenia in an Ashkenazi Jewish population using DNA pooling.\n We found a female-specific association with rs7341475, a SNP in the fourth\n intron of the reelin (RELN) gene (p = 2.9 x 10(-5) in women), with a\n significant gene-sex effect (p = 1.8 x 10(-4)). We studied rs7341475 in four\n additional populations, totaling 2,274 cases and 4,401 controls. A\n significant effect was observed only in women, replicating the initial result\n (p = 2.1 x 10(-3) in women; p = 4.2 x 10(-3) for gene-sex interaction). Based\n on all populations the estimated relative risk of women carrying the common\n genotype is 1.58 (p = 8.8 x 10(-7); p = 1.6 x 10(-5) for gene-sex\n interaction). The female-specific association between RELN and schizophrenia\n is one of the few examples of a replicated sex-specific genetic association\n in any disease.", "journal": {"name": "PLoS Genet", "impact_factor": 0.0}, "refcount": 105, "pubmed_id": "18282107", "published_on": "2008-02-15", "metadata": "{u'essn': u'1553-7404', u'pages': u'e28', u'locationlabel': u'', u'pubdate': u'2008 Feb', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'2', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'genome wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women', u'lastauthor': u'Darvasi A', u'title': u'Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women.', u'fulljournalname': u'PLoS genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Shifman S', u'sortpubdate': u'2008/02/01 00:00', u'uid': u'18282107', u'pmcrefcount': 105, u'pubstatus': u'4', u'history': [{u'pubstatus': u'received', u'date': u'2007/10/05 00:00'}, {u'pubstatus': u'accepted', u'date': u'2007/12/17 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/02/20 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/06/05 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/02/20 09:00'}], u'issn': u'1553-7390', u'nlmuniqueid': u'101239074', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1371/journal.pgen.0040028', u'authors': [{u'name': u'Shifman S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Johannesson M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bronstein M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chen SX', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Collier DA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Craddock NJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kendler KS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Li T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"O'Donovan M\", u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"O'Neill FA\", u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Owen MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Walsh D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Weinberger DR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sun C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Flint J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Darvasi A', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'PLoS Genet', u'chapter': u'', u'articleids': [{u'value': u'18282107', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'07-PLGE-RA-0891', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1371/journal.pgen.0040028', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2242812', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'18282107', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18282107', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2242812;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'4'}", "phenotypes": [{"body_part": "psychological", "fun": false, "description": "Schizophrenia", "rsid": "7341475"}], "chrom": "7", "pos": 103404815, "personal": false}, {"title": "Newly identified genetic risk variants for celiac disease related to the immune response.", "authors": "Hunt KA", "abstract": "Our genome-wide association study of celiac disease previously\n identified risk variants in the IL2-IL21 region. To identify additional risk\n variants, we genotyped 1,020 of the most strongly associated non-HLA markers\n in an additional 1,643 cases and 3,406 controls. Through joint analysis\n including the genome-wide association study data (767 cases, 1,422 controls),\n we identified seven previously unknown risk regions (P < 5 x 10(-7)). Six\n regions harbor genes controlling immune responses, including CCR3, IL12A,\n IL18RAP, RGS1, SH2B3 (nsSNP rs3184504) and TAGAP. Whole-blood IL18RAP mRNA\n expression correlated with IL18RAP genotype. Type 1 diabetes and celiac\n disease share HLA-DQ, IL2-IL21, CCR3 and SH2B3 risk regions. Thus, this\n extensive genome-wide association follow-up study has identified additional\n celiac disease risk variants in relevant biological pathways.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 199, "pubmed_id": "18311140", "published_on": "2008-03-02", "metadata": "{u'essn': u'1546-1718', u'pages': u'395-402', u'locationlabel': u'', u'pubdate': u'2008 Apr', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'4', u'booktitle': u'', u'epubdate': u'2008 Mar 2', u'sorttitle': u'newly identified genetic risk variants for celiac disease related to the immune response', u'lastauthor': u'van Heel DA', u'title': u'Newly identified genetic risk variants for celiac disease related to the immune response.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Hunt KA', u'sortpubdate': u'2008/04/01 00:00', u'uid': u'18311140', u'pmcrefcount': 199, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/11/07 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/01/08 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/03/04 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/05/01 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/03/04 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.102', u'authors': [{u'name': u'Hunt KA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zhernakova A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Turner G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heap GA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Franke L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bruinenberg M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Romanos J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dinesen LC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ryan AW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Panesar D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gwilliam R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Takeuchi F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McLaren WM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Holmes GK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Howdle PD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Walters JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sanders DS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Playford RJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Trynka G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mulder CJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mearin ML', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Verbeek WH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Trimble V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stevens FM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"O'Morain C\", u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kennedy NP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kelleher D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pennington DJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Strachan DP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McArdle WL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mein CA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wapenaar MC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Deloukas P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McGinnis R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McManus R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wijmenga C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'van Heel DA', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18311140', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.102', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.102', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2673512', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'UKMS2751', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18311140', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18311140', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2673512;manuscript-id: UKMS2751;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "gut", "fun": false, "description": "Celiac disease", "rsid": "2816316"}, {"body_part": "gut", "fun": false, "description": "Celiac disease", "rsid": "13015714"}, {"body_part": "gut", "fun": false, "description": "Celiac disease", "rsid": "17810546"}, {"body_part": "gut", "fun": false, "description": "Celiac disease", "rsid": "1464510"}, {"body_part": "gut", "fun": false, "description": "Celiac disease", "rsid": "6441961"}, {"body_part": "gut", "fun": false, "description": "Celiac disease", "rsid": "653178"}, {"body_part": "gut", "fun": false, "description": "Celiac disease", "rsid": "6822844"}, {"body_part": "gut", "fun": false, "description": "Celiac disease", "rsid": "1738074"}], "chrom": "1", "pos": 192536813, "personal": false}, {"title": "SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.", "authors": "Vitart V", "abstract": "Uric acid is the end product of purine metabolism in humans and\n great apes, which have lost hepatic uricase activity, leading to uniquely\n high serum uric acid concentrations (200-500 microM) compared with other\n mammals (3-120 microM). About 70% of daily urate disposal occurs via the\n kidneys, and in 5-25% of the human population, impaired renal excretion leads\n to hyperuricemia. About 10% of people with hyperuricemia develop gout, an\n inflammatory arthritis that results from deposition of monosodium urate\n crystals in the joint. We have identified genetic variants within a\n transporter gene, SLC2A9, that explain 1.7-5.3% of the variance in serum uric\n acid concentrations, following a genome-wide association scan in a Croatian\n population sample. SLC2A9 variants were also associated with low fractional\n excretion of uric acid and/or gout in UK, Croatian and German population\n samples. SLC2A9 is a known fructose transporter, and we now show that it has\n strong uric acid transport activity in Xenopus laevis oocytes.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 183, "pubmed_id": "18327257", "published_on": "2008-03-09", "metadata": "{u'essn': u'1546-1718', u'pages': u'437-42', u'locationlabel': u'', u'pubdate': u'2008 Apr', u'medium': u'', u'pubtype': [u'Journal Article', u'Multicenter Study'], u'availablefromurl': u'', u'issue': u'4', u'booktitle': u'', u'epubdate': u'2008 Mar 9', u'sorttitle': u'slc2a9 is a newly identified urate transporter influencing serum urate concentration urate excretion and gout', u'lastauthor': u'Wright AF', u'title': u'SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Vitart V', u'sortpubdate': u'2008/04/01 00:00', u'uid': u'18327257', u'pmcrefcount': 183, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/11/05 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/02/04 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/03/11 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/05/01 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/03/11 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.106', u'authors': [{u'name': u'Vitart V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rudan I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hayward C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gray NK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Floyd J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Palmer CN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Knott SA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kolcic I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Polasek O', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Graessler J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wilson JF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Marinaki A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Riches PL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Shu X', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Janicijevic B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Smolej-Narancic N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gorgoni B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Morgan J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Campbell S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Biloglav Z', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barac-Lauc L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pericic M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Klaric IM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zgaga L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Skaric-Juric T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wild SH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Richardson WA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hohenstein P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kimber CH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tenesa A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Donnelly LA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fairbanks LD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Aringer M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McKeigue PM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ralston SH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Morris AD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rudan P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hastie ND', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Campbell H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wright AF', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18327257', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.106', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.106', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18327257', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18327257', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Urate levels", "rsid": "737267"}], "chrom": "4", "pos": 9934744, "personal": false}, {"title": "SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.", "authors": "Doring A", "abstract": "Serum uric acid concentrations are correlated with gout and\n clinical entities such as cardiovascular disease and diabetes. In the\n genome-wide association study KORA (Kooperative Gesundheitsforschung in der\n Region Augsburg) F3 500K (n = 1,644), the most significant SNPs associated\n with uric acid concentrations mapped within introns 4 and 6 of SLC2A9, a gene\n encoding a putative hexose transporter (effects: -0.23 to -0.36 mg/dl per\n copy of the minor allele). We replicated these findings in three independent\n samples from Germany (KORA S4 and SHIP (Study of Health in Pomerania)) and\n Austria (SAPHIR; Salzburg Atherosclerosis Prevention Program in Subjects at\n High Individual Risk), with P values ranging from 1.2 x 10(-8) to 1.0 x\n 10(-32). Analysis of whole blood RNA expression profiles from a KORA F3 500K\n subgroup (n = 117) showed a significant association between the SLC2A9\n isoform 2 and urate concentrations. The SLC2A9 genotypes also showed\n significant association with self-reported gout. The proportion of the\n variance of serum uric acid concentrations explained by genotypes was about\n 1.2% in men and 6% in women, and the percentage accounted for by expression\n levels was 3.5% in men and 15% in women.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 131, "pubmed_id": "18327256", "published_on": "2008-03-09", "metadata": "{u'essn': u'1546-1718', u'pages': u'430-6', u'locationlabel': u'', u'pubdate': u'2008 Apr', u'medium': u'', u'pubtype': [u'Journal Article', u'Multicenter Study'], u'availablefromurl': u'', u'issue': u'4', u'booktitle': u'', u'epubdate': u'2008 Mar 9', u'sorttitle': u'slc2a9 influences uric acid concentrations with pronounced sex specific effects', u'lastauthor': u'Meisinger C', u'title': u'SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'D\\xf6ring A', u'sortpubdate': u'2008/04/01 00:00', u'uid': u'18327256', u'pmcrefcount': 131, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/10/22 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/02/01 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/03/11 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/05/01 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/03/11 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.107', u'authors': [{u'name': u'D\\xf6ring A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gieger C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mehta D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gohlke H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Prokisch H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Coassin S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fischer G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Henke K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Klopp N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kronenberg F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Paulweber B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pfeufer A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rosskopf D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'V\\xf6lzke H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Illig T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Meitinger T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wichmann HE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Meisinger C', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18327256', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.107', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.107', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18327256', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18327256', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Urate levels", "rsid": "7442295"}], "chrom": "4", "pos": 9966380, "personal": false}, {"title": "A genome-wide association study in 574 schizophrenia trios using DNA pooling.", "authors": "Kirov G", "abstract": "The cost of genome-wide association (GWA) studies can be\n prohibitively high when large samples are genotyped. We conducted a GWA study\n on schizophrenia (SZ) and to reduce the cost, we used DNA pooling. We used a\n parent-offspring trios design to avoid the potential problems of population\n stratification. We constructed pools from 605 unaffected controls, 574 SZ\n patients and a third pool from all the parents of the patients. We hybridized\n each pool eight times on Illumina HumanHap550 arrays. We estimated the allele\n frequencies of each pool from the averaged intensities of the arrays. The\n significance level of results in the trios sample was estimated on the basis\n of the allele frequencies in cases and non-transmitted pseudocontrols, taking\n into account the technical variability of the data. We selected the highest\n ranked SNPs for individual genotyping, after excluding poorly performing SNPs\n and those that showed a trend in the opposite direction in the control pool.\n We genotyped 63 SNPs in 574 trios and analysed the results with the\n transmission disequilibrium test. Forty of those were significant at P<0.05,\n with the best result at P=1.2 x 10(-6) for rs11064768. This SNP is within the\n gene CCDC60, a coiled-coil domain gene. The third best SNP (P=0.00016) is\n rs893703, within RBP1, a candidate gene for schizophrenia.", "journal": {"name": "Mol Psychiatry", "impact_factor": 0.0}, "refcount": 46, "pubmed_id": "18332876", "published_on": "2008-03-11", "metadata": "{u'essn': u'1476-5578', u'pages': u'796-803', u'locationlabel': u'', u'pubdate': u'2009 Aug', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'8', u'booktitle': u'', u'epubdate': u'2008 Mar 11', u'sorttitle': u'genome wide association study in 574 schizophrenia trios using dna pooling', u'lastauthor': u\"O'Donovan MC\", u'title': u'A genome-wide association study in 574 schizophrenia trios using DNA pooling.', u'fulljournalname': u'Molecular psychiatry', u'publisherlocation': u'', u'sortfirstauthor': u'Kirov G', u'sortpubdate': u'2009/08/01 00:00', u'uid': u'18332876', u'pmcrefcount': 46, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2008/03/12 09:00'}, {u'pubstatus': u'medline', u'date': u'2009/12/16 06:00'}, {u'pubstatus': u'entrez', u'date': u'2008/03/12 09:00'}], u'issn': u'1359-4184', u'nlmuniqueid': u'9607835', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/mp.2008.33', u'authors': [{u'name': u'Kirov G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zaharieva I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Georgieva L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Moskvina V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nikolov I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cichon S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hillmer A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Toncheva D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Owen MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u\"O'Donovan MC\", u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Mol Psychiatry', u'chapter': u'', u'articleids': [{u'value': u'18332876', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'mp200833', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/mp.2008.33', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18332876', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18332876', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'14'}", "phenotypes": [{"body_part": "psychological", "fun": false, "description": "Schizophrenia", "rsid": "11064768"}], "chrom": "12", "pos": 119818509, "personal": false}, {"title": "Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33.", "authors": "Gold B", "abstract": "We performed a three-phase genome-wide association study (GWAS)\n using cases and controls from a genetically isolated population, Ashkenazi\n Jews (AJ), to identify loci associated with breast cancer risk. In the first\n phase, we compared allele frequencies of 150,080 SNPs in 249 high-risk,\n BRCA1/2 mutation-negative AJ familial cases and 299 cancer-free AJ controls\n using chi(2) and the Cochran-Armitage trend tests. In the second phase, we\n genotyped 343 SNPs from 123 regions most significantly associated from stage\n 1, including 4 SNPs from the FGFR2 region, in 950 consecutive AJ breast\n cancer cases and 979 age-matched AJ controls. We replicated major\n associations in a third independent set of 243 AJ cases and 187 controls. We\n obtained a significant allele P value of association with AJ breast cancer in\n the FGFR2 region (P = 1.5 x 10(-5), odds ratio (OR) 1.26, 95% confidence\n interval (CI) 1.13-1.40 at rs1078806 for all phases combined). In addition,\n we found a risk locus in a region of chromosome 6q22.33 (P = 2.9 x 10(-8), OR\n 1.41, 95% CI 1.25-1.59 at rs2180341). Using several SNPs at each implicated\n locus, we were able to verify associations and impute haplotypes. The major\n haplotype at the 6q22.33 locus conferred protection from disease, whereas the\n minor haplotype conferred risk. Candidate genes in the 6q22.33 region include\n ECHDC1, which encodes a protein involved in mitochondrial fatty acid\n oxidation, and also RNF146, which encodes a ubiquitin protein ligase, both\n known pathways in breast cancer pathogenesis.", "journal": {"name": "Proc Natl Acad Sci U S A", "impact_factor": 0.0}, "refcount": 142, "pubmed_id": "18326623", "published_on": "2008-03-11", "metadata": "{u'essn': u'1091-6490', u'pages': u'4340-5', u'locationlabel': u'', u'pubdate': u'2008 Mar 18', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'11', u'booktitle': u'', u'epubdate': u'2008 Mar 7', u'sorttitle': u'genome wide association study provides evidence for a breast cancer risk locus at 6q22 33', u'lastauthor': u'Offit K', u'title': u'Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33.', u'fulljournalname': u'Proceedings of the National Academy of Sciences of the United States of America', u'publisherlocation': u'', u'sortfirstauthor': u'Gold B', u'sortpubdate': u'2008/03/18 00:00', u'uid': u'18326623', u'pmcrefcount': 142, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2008/03/11 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/04/16 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/03/11 09:00'}], u'issn': u'0027-8424', u'nlmuniqueid': u'7505876', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1073/pnas.0800441105', u'authors': [{u'name': u'Gold B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kirchhoff T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefanov S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lautenberger J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Viale A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Garber J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Friedman E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Narod S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Olshen AB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gregersen P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kosarin K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Olsh A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bergeron J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ellis NA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Klein RJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Clark AG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Norton L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dean M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Boyd J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Offit K', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Proc Natl Acad Sci U S A', u'chapter': u'', u'articleids': [{u'value': u'18326623', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'0800441105', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1073/pnas.0800441105', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2393811', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'18326623', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18326623', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2393811;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'105'}", "phenotypes": [{"body_part": "breast", "fun": false, "description": "Breast cancer", "rsid": "2180341"}], "chrom": "6", "pos": 127600630, "personal": false}, {"title": "Genomewide association for schizophrenia in the CATIE study: results of stage 1.", "authors": "Sullivan PF", "abstract": "Little is known for certain about the genetics of schizophrenia.\n The advent of genomewide association has been widely anticipated as a\n promising means to identify reproducible DNA sequence variation associated\n with this important and debilitating disorder. A total of 738 cases with\n DSM-IV schizophrenia (all participants in the CATIE study) and 733\n group-matched controls were genotyped for 492,900 single-nucleotide\n polymorphisms (SNPs) using the Affymetrix 500K two-chip genotyping platform\n plus a custom 164K fill-in chip. Following multiple quality control steps for\n both subjects and SNPs, logistic regression analyses were used to assess the\n evidence for association of all SNPs with schizophrenia. We identified a\n number of promising SNPs for follow-up studies, although no SNP or\n multimarker combination of SNPs achieved genomewide statistical significance.\n Although a few signals coincided with genomic regions previously implicated\n in schizophrenia, chance could not be excluded. These data do not provide\n evidence for the involvement of any genomic region with schizophrenia\n detectable with moderate sample size. However, a planned genomewide\n association study for response phenotypes and inclusion of individual\n phenotype and genotype data from this study in meta-analyses hold promise for\n eventual identification of susceptibility and protective variants.", "journal": {"name": "Mol Psychiatry", "impact_factor": 0.0}, "refcount": 134, "pubmed_id": "18347602", "published_on": "2008-03-18", "metadata": "{u'essn': u'1476-5578', u'pages': u'570-84', u'locationlabel': u'', u'pubdate': u'2008 Jun', u'medium': u'', u'pubtype': [u'Journal Article', u'Randomized Controlled Trial'], u'availablefromurl': u'', u'issue': u'6', u'booktitle': u'', u'epubdate': u'2008 Mar 18', u'sorttitle': u'genomewide association for schizophrenia in the catie study results of stage 1', u'lastauthor': u'Close SL', u'title': u'Genomewide association for schizophrenia in the CATIE study: results of stage 1.', u'fulljournalname': u'Molecular psychiatry', u'publisherlocation': u'', u'sortfirstauthor': u'Sullivan PF', u'sortpubdate': u'2008/06/01 00:00', u'uid': u'18347602', u'pmcrefcount': 134, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2008/03/19 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/08/07 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/03/19 09:00'}], u'issn': u'1359-4184', u'nlmuniqueid': u'9607835', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': u'', u'refsource': u'Mol Psychiatry. 2009 Dec;14(12):1144', u'reftype': u'Erratum in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/mp.2008.25', u'authors': [{u'name': u'Sullivan PF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lin D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tzeng JY', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'van den Oord E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Perkins D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stroup TS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wagner M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lee S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wright FA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zou F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Liu W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Downing AM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lieberman J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Close SL', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Mol Psychiatry', u'chapter': u'', u'articleids': [{u'value': u'18347602', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'mp200825', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/mp.2008.25', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC3910086', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS319115', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18347602', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18347602', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC3910086;manuscript-id: NIHMS319115;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'13'}", "phenotypes": [{"body_part": "psychological", "fun": false, "description": "Schizophrenia", "rsid": "16977195"}, {"body_part": "psychological", "fun": false, "description": "Schizophrenia", "rsid": "2159767"}, {"body_part": "psychological", "fun": false, "description": "Schizophrenia", "rsid": "10911902"}, {"body_part": "psychological", "fun": false, "description": "Schizophrenia", "rsid": "4846033"}, {"body_part": "psychological", "fun": false, "description": "Schizophrenia", "rsid": "9512730"}, {"body_part": "psychological", "fun": false, "description": "Schizophrenia", "rsid": "151222"}], "chrom": "15", "pos": 86984240, "personal": false}, {"title": "Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.", "authors": "Capon F", "abstract": "Psoriasis is an immune-mediated skin disorder that is inherited\n as a multifactorial trait. Linkage studies have clearly identified a primary\n disease susceptibility locus lying within the major histocompatibility\n complex (MHC), but have generated conflicting results for other genomic\n regions. To overcome this difficulty, we have carried out a genome-wide\n association scan, where we analyzed more than 408,000 SNPs in an initial\n sample of 318 cases and 288 controls. Outside of the MHC, we observed a\n single cluster of disease-associated markers, spanning 47 kb on chromosome\n 20q13. The analysis of two replication data sets confirmed this association,\n with SNP rs495337 yielding a combined P-value of 1.4 x 10(-8) in an overall\n sample of 2679 cases and 2215 controls. Rs495337 maps to the SPATA2\n transcript and is in absolute linkage disequilibrium with five SNPs lying in\n the adjacent ZNF313 gene (also known as RNF114). Real-time PCR experiments\n showed that, unlike SPATA2, ZNF313 is abundantly expressed in skin,\n T-lymphocytes and dendritic cells. Furthermore, an analysis of the expression\n data available from the Genevar database indicated that rs495337 is\n associated with increased ZNF313 transcripts levels (P = 0.003), suggesting\n that the disease susceptibility allele may be a ZNF313 regulatory variant\n tagged by rs495337. Homology searches indicated that ZNF313 is a paralogue of\n TRAC-1, an ubiquitin ligase regulating T-cell activation. We performed\n cell-free assays and confirmed that like TRAC-1, ZNF313 binds ubiquitin via\n an ubiquitin-interaction motif (UIM). These findings collectively identify a\n novel psoriasis susceptibility gene, with a putative role in the regulation\n of immune responses.", "journal": {"name": "Hum Mol Genet", "impact_factor": 0.0}, "refcount": 52, "pubmed_id": "18364390", "published_on": "2008-03-25", "metadata": "{u'essn': u'1460-2083', u'pages': u'1938-45', u'locationlabel': u'', u'pubdate': u'2008 Jul 1', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'13', u'booktitle': u'', u'epubdate': u'2008 Mar 25', u'sorttitle': u'identification of znf313 rnf114 as a novel psoriasis susceptibility gene', u'lastauthor': u'Trembath RC', u'title': u'Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.', u'fulljournalname': u'Human molecular genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Capon F', u'sortpubdate': u'2008/07/01 00:00', u'uid': u'18364390', u'pmcrefcount': 52, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2008/03/28 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/07/24 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/03/28 09:00'}], u'issn': u'0964-6906', u'nlmuniqueid': u'9208958', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1093/hmg/ddn091', u'authors': [{u'name': u'Capon F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bijlmakers MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wolf N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Quaranta M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Huffmeier U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Allen M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Timms K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Abkevich V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gutin A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Smith R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Warren RB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Young HS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Worthington J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Burden AD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Griffiths CE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hayday A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nestle FO', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Reis A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lanchbury J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barker JN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Trembath RC', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Hum Mol Genet', u'chapter': u'', u'articleids': [{u'value': u'18364390', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ddn091', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1093/hmg/ddn091', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2900900', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'18364390', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18364390', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2900900;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'17'}", "phenotypes": [{"body_part": "skin", "fun": false, "description": "Psoriasis", "rsid": "3134792"}, {"body_part": "skin", "fun": false, "description": "Psoriasis", "rsid": "495337"}], "chrom": "20", "pos": 48522330, "personal": false}, {"title": "A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3.", "authors": "Tomlinson IP", "abstract": "To identify colorectal cancer (CRC) susceptibility alleles, we\n conducted a genome-wide association study. In phase 1, we genotyped 550,163\n tagSNPs in 940 familial colorectal tumor cases (627 CRC, 313 high-risk\n adenoma) and 965 controls. In phase 2, we genotyped 42,708 selected SNPs in\n 2,873 CRC cases and 2,871 controls. In phase 3, we evaluated 11 SNPs showing\n association at P < 10(-4) in a joint analysis of phases 1 and 2 in 4,287 CRC\n cases and 3,743 controls. Two SNPs were taken forward to phase 4 genotyping\n (10,731 CRC cases and 10,961 controls from eight centers). In addition to the\n previously reported 8q24, 15q13 and 18q21 CRC risk loci, we identified two\n previously unreported associations: rs10795668, located at 10p14 (P = 2.5 x\n 10(-13) overall; P = 6.9 x 10(-12) replication), and rs16892766, at 8q23.3 (P\n = 3.3 x 10(-18) overall; P = 9.6 x 10(-17) replication), which tags a\n plausible causative gene, EIF3H. These data provide further evidence for the \n'common-disease common-variant' model of CRC predisposition.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 239, "pubmed_id": "18372905", "published_on": "2008-03-30", "metadata": "{u'essn': u'1546-1718', u'pages': u'623-30', u'locationlabel': u'', u'pubdate': u'2008 May', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5', u'booktitle': u'', u'epubdate': u'2008 Mar 30', u'sorttitle': u'genome wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23 3', u'lastauthor': u'Houlston RS', u'title': u'A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Tomlinson IP', u'sortpubdate': u'2008/05/01 00:00', u'uid': u'18372905', u'pmcrefcount': 239, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/11/26 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/02/01 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/04/01 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/05/23 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/04/01 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.111', u'authors': [{u'name': u'Tomlinson IP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Webb E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Carvajal-Carmona L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Broderick P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Howarth K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pittman AM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Spain S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lubbe S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Walther A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sullivan K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jaeger E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fielding S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rowan A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vijayakrishnan J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Domingo E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chandler I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kemp Z', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Qureshi M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Farrington SM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tenesa A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Prendergast JG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barnetson RA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Penegar S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barclay E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wood W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Martin L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gorman M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thomas H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Peto J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bishop DT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gray R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Maher ER', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lucassen A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kerr D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Evans DG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'CORGI Consortium.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Schafmayer C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Buch S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'V\\xf6lzke H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hampe J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schreiber S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'John U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Koessler T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pharoah P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'van Wezel T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Morreau H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wijnen JT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hopper JL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Southey MC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Giles GG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Severi G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Castellv\\xed-Bel S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ruiz-Ponte C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Carracedo A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Castells A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'EPICOLON Consortium.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'F\\xf6rsti A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hemminki K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vodicka P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Naccarati A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lipton L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ho JW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cheng KK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sham PC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Luk J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ag\\xfandez JA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ladero JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'de la Hoya M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cald\\xe9s T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Niittym\\xe4ki I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tuupanen S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Karhu A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Aaltonen L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cazier JB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Campbell H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dunlop MG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Houlston RS', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18372905', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.111', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.111', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18372905', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18372905', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "colorectal", "fun": false, "description": "Colorectal cancer", "rsid": "16892766"}, {"body_part": "colorectal", "fun": false, "description": "Colorectal cancer", "rsid": "6983267"}, {"body_part": "colorectal", "fun": false, "description": "Colorectal cancer", "rsid": "4939827"}, {"body_part": "colorectal", "fun": false, "description": "Colorectal cancer", "rsid": "10795668"}, {"body_part": "colorectal", "fun": false, "description": "Colorectal cancer", "rsid": "4779584"}], "chrom": "10", "pos": 8701219, "personal": true}, {"title": "Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.", "authors": "Tenesa A", "abstract": "In a genome-wide association study to identify loci associated\n with colorectal cancer (CRC) risk, we genotyped 555,510 SNPs in 1,012\n early-onset Scottish CRC cases and 1,012 controls (phase 1). In phase 2, we\n genotyped the 15,008 highest-ranked SNPs in 2,057 Scottish cases and 2,111\n controls. We then genotyped the five highest-ranked SNPs from the joint phase\n 1 and 2 analysis in 14,500 cases and 13,294 controls from seven populations,\n and identified a previously unreported association, rs3802842 on 11q23 (OR =\n 1.1; P = 5.8 x 10(-10)), showing population differences in risk. We also\n replicated and fine-mapped associations at 8q24 (rs7014346; OR = 1.19; P =\n 8.6 x 10(-26)) and 18q21 (rs4939827; OR = 1.2; P = 7.8 x 10(-28)). Risk was\n greater for rectal than for colon cancer for rs3802842 (P < 0.008) and\n rs4939827 (P < 0.009). Carrying all six possible risk alleles yielded OR =\n 2.6 (95% CI = 1.75-3.89) for CRC. These findings extend our understanding of\n the role of common genetic variation in CRC etiology.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 247, "pubmed_id": "18372901", "published_on": "2008-03-30", "metadata": "{u'essn': u'1546-1718', u'pages': u'631-7', u'locationlabel': u'', u'pubdate': u'2008 May', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5', u'booktitle': u'', u'epubdate': u'2008 Mar 30', u'sorttitle': u'genome wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21', u'lastauthor': u'Dunlop MG', u'title': u'Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Tenesa A', u'sortpubdate': u'2008/05/01 00:00', u'uid': u'18372901', u'pmcrefcount': 247, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/12/05 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/02/29 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/04/01 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/05/23 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/04/01 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.133', u'authors': [{u'name': u'Tenesa A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Farrington SM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Prendergast JG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Porteous ME', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Walker M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Haq N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barnetson RA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Theodoratou E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cetnarskyj R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cartwright N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Semple C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Clark AJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Reid FJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Smith LA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kavoussanakis K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Koessler T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pharoah PD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Buch S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schafmayer C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tepel J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schreiber S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'V\\xf6lzke H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schmidt CO', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hampe J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chang-Claude J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hoffmeister M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Brenner H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wilkening S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Canzian F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Capella G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Moreno V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Deary IJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Starr JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tomlinson IP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kemp Z', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Howarth K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Carvajal-Carmona L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Webb E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Broderick P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vijayakrishnan J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Houlston RS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rennert G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ballinger D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rozek L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gruber SB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Matsuda K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kidokoro T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nakamura Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zanke BW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Greenwood CM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rangrej J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kustra R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Montpetit A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hudson TJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gallinger S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Campbell H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dunlop MG', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18372901', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.133', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.133', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2778004', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS142157', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18372901', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18372901', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2778004;manuscript-id: NIHMS142157;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "colorectal", "fun": false, "description": "Colorectal cancer", "rsid": "7014346"}, {"body_part": "colorectal", "fun": false, "description": "Colorectal cancer", "rsid": "4939827"}, {"body_part": "colorectal", "fun": false, "description": "Colorectal cancer", "rsid": "3802842"}], "chrom": "8", "pos": 128424792, "personal": true}, {"title": "Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.", "authors": "Zeggini E", "abstract": "Genome-wide association (GWA) studies have identified multiple\n loci at which common variants modestly but reproducibly influence risk of\n type 2 diabetes (T2D). Established associations to common and rare variants\n explain only a small proportion of the heritability of T2D. As previously\n published analyses had limited power to identify variants with modest\n effects, we carried out meta-analysis of three T2D GWA scans comprising\n 10,128 individuals of European descent and approximately 2.2 million SNPs\n (directly genotyped and imputed), followed by replication testing in an\n independent sample with an effective sample size of up to 53,975. We detected\n at least six previously unknown loci with robust evidence for association,\n including the JAZF1 (P = 5.0 x 10(-14)), CDC123-CAMK1D (P = 1.2 x 10(-10)),\n TSPAN8-LGR5 (P = 1.1 x 10(-9)), THADA (P = 1.1 x 10(-9)), ADAMTS9 (P = 1.2 x\n 10(-8)) and NOTCH2 (P = 4.1 x 10(-8)) gene regions. Our results illustrate\n the value of large discovery and follow-up samples for gaining further\n insights into the inherited basis of T2D.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 756, "pubmed_id": "18372903", "published_on": "2008-03-30", "metadata": "{u'essn': u'1546-1718', u'pages': u'638-45', u'locationlabel': u'', u'pubdate': u'2008 May', u'medium': u'', u'pubtype': [u'Journal Article', u'Meta-Analysis'], u'availablefromurl': u'', u'issue': u'5', u'booktitle': u'', u'epubdate': u'2008 Mar 30', u'sorttitle': u'meta analysis of genome wide association data and large scale replication identifies additional susceptibility loci for type 2 diabetes', u'lastauthor': u'Altshuler D', u'title': u'Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Zeggini E', u'sortpubdate': u'2008/05/01 00:00', u'uid': u'18372903', u'pmcrefcount': 756, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/12/18 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/02/12 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/04/01 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/05/23 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/04/01 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.120', u'authors': [{u'name': u'Zeggini E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Scott LJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Saxena R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Voight BF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Marchini JL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hu T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'de Bakker PI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Abecasis GR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Almgren P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Andersen G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ardlie K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bostr\\xf6m KB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bergman RN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bonnycastle LL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Borch-Johnsen K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Burtt NP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chen H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chines PS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Daly MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Deodhar P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ding CJ', u'clusterid': u'', u'authtype': 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u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Isomaa B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jackson AU', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'J\\xf8rgensen T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kong A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kubalanza K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kuruvilla FG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kuusisto J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Langenberg C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lango H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lauritzen T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Li Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lindgren CM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lyssenko V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Marvelle AF', u'clusterid': u'', u'authtype': 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u'Author'}, {u'name': u'Hattersley AT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Collins FS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Groop L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McCarthy MI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Boehnke M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Altshuler D', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18372903', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.120', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.120', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2672416', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'UKMS4376', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18372903', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18372903', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2672416;manuscript-id: UKMS4376;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "864745"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "12779790"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "7961581"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "7578597"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "4607103"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "10923931"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "1153188"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "17036101"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "4402960"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "6931514"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "7020996"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "5015480"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "7903146"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "9472138"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "8050136"}, {"body_part": "", "fun": false, "description": "Type 2 diabetes", "rsid": "5215"}], "chrom": "7", "pos": 28180556, "personal": false}, {"title": "A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25.", "authors": "Hung RJ", "abstract": "Lung cancer is the most common cause of cancer death worldwide,\n with over one million cases annually. To identify genetic factors that modify\n disease risk, we conducted a genome-wide association study by analysing\n 317,139 single-nucleotide polymorphisms in 1,989 lung cancer cases and 2,625\n controls from six central European countries. We identified a locus in\n chromosome region 15q25 that was strongly associated with lung cancer (P = 9\n x 10(-10)). This locus was replicated in five separate lung cancer studies\n comprising an additional 2,513 lung cancer cases and 4,752 controls (P = 5 x\n 10(-20) overall), and it was found to account for 14% (attributable risk) of\n lung cancer cases. Statistically similar risks were observed irrespective of\n smoking status or propensity to smoke tobacco. The association region\n contains several genes, including three that encode nicotinic acetylcholine\n receptor subunits (CHRNA5, CHRNA3 and CHRNB4). Such subunits are expressed in\n neurons and other tissues, in particular alveolar epithelial cells, pulmonary\n neuroendocrine cells and lung cancer cell lines, and they bind to N\n'-nitrosonornicotine and potential lung carcinogens. A non-synonymous variant\n of CHRNA5 that induces an amino acid substitution (D398N) at a highly\n conserved site in the second intracellular loop of the protein is among the\n markers with the strongest disease associations. Our results provide\n compelling evidence of a locus at 15q25 predisposing to lung cancer, and\n reinforce interest in nicotinic acetylcholine receptors as potential disease\n candidates and chemopreventative targets.", "journal": {"name": "Nature", "impact_factor": 0.0}, "refcount": 476, "pubmed_id": "18385738", "published_on": "2008-04-03", "metadata": "{u'essn': u'1476-4687', u'pages': u'633-7', u'locationlabel': u'', u'pubdate': u'2008 Apr 3', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'7187', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25', u'lastauthor': u'Brennan P', u'title': u'A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25.', u'fulljournalname': u'Nature', u'publisherlocation': u'', u'sortfirstauthor': u'Hung RJ', u'sortpubdate': u'2008/04/03 00:00', u'uid': u'18385738', u'pmcrefcount': 476, u'pubstatus': u'4', u'history': [{u'pubstatus': u'received', u'date': u'2007/11/30 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/03/07 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/04/04 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/05/07 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/04/04 09:00'}], u'issn': u'0028-0836', u'nlmuniqueid': u'0410462', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18385720, u'refsource': u'Nature. 2008 Apr 3;452(7187):537-8', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/nature06885', u'authors': [{u'name': u'Hung RJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McKay JD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gaborieau V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Boffetta P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hashibe M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zaridze D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mukeria A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Szeszenia-Dabrowska N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lissowska J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rudnai P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fabianova E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mates D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bencko V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Foretova L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Janout V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chen C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Goodman G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Field JK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Liloglou T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Xinarianos G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cassidy A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McLaughlin J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Liu G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Narod S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Krokan HE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Skorpen F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Elvestad MB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hveem K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vatten L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Linseisen J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Clavel-Chapelon F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vineis P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bueno-de-Mesquita HB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lund E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Martinez C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bingham S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rasmuson T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hainaut P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Riboli E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ahrens W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Benhamou S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lagiou P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Trichopoulos D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Holc\\xe1tov\\xe1 I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Merletti F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kjaerheim K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Agudo A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Macfarlane G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Talamini R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Simonato L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lowry R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Conway DI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Znaor A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Healy C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zelenika D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Boland A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Delepine M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Foglio M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lechner D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Matsuda F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Blanche H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gut I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heath S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lathrop M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Brennan P', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nature', u'chapter': u'', u'articleids': [{u'value': u'18385738', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'nature06885', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/nature06885', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18385738', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18385738', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'452'}", "phenotypes": [{"body_part": "lung", "fun": false, "description": "Lung cancer", "rsid": "8034191"}], "chrom": "15", "pos": 78806023, "personal": true}, {"title": "A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.", "authors": "Thorgeirsson TE", "abstract": "Smoking is a leading cause of preventable death, causing about 5\n million premature deaths worldwide each year. Evidence for genetic influence\n on smoking behaviour and nicotine dependence (ND) has prompted a search for\n susceptibility genes. Furthermore, assessing the impact of sequence variants\n on smoking-related diseases is important to public health. Smoking is the\n major risk factor for lung cancer (LC) and is one of the main risk factors\n for peripheral arterial disease (PAD). Here we identify a common variant in\n the nicotinic acetylcholine receptor gene cluster on chromosome 15q24 with an\n effect on smoking quantity, ND and the risk of two smoking-related diseases\n in populations of European descent. The variant has an effect on the number\n of cigarettes smoked per day in our sample of smokers. The same variant was\n associated with ND in a previous genome-wide association study that used\n low-quantity smokers as controls, and with a similar approach we observe a\n highly significant association with ND. A comparison of cases of LC and PAD\n with population controls each showed that the variant confers risk of LC and\n PAD. The findings provide a case study of a gene-environment interaction,\n highlighting the role of nicotine addiction in the pathology of other serious\n diseases.", "journal": {"name": "Nature", "impact_factor": 0.0}, "refcount": 575, "pubmed_id": "18385739", "published_on": "2008-04-03", "metadata": "{u'essn': u'1476-4687', u'pages': u'638-642', u'locationlabel': u'', u'pubdate': u'2008 Apr 3', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'7187', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'variant associated with nicotine dependence lung cancer and peripheral arterial disease', u'lastauthor': u'Stefansson K', u'title': u'A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.', u'fulljournalname': u'Nature', u'publisherlocation': u'', u'sortfirstauthor': u'Thorgeirsson TE', u'sortpubdate': u'2008/04/03 00:00', u'uid': u'18385739', u'pmcrefcount': 575, u'pubstatus': u'4', u'history': [{u'pubstatus': u'received', u'date': u'2007/12/17 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/02/25 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/04/04 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/05/07 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/04/04 09:00'}], u'issn': u'0028-0836', u'nlmuniqueid': u'0410462', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18385720, u'refsource': u'Nature. 2008 Apr 3;452(7187):537-8', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/nature06846', u'authors': [{u'name': u'Thorgeirsson TE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Geller F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sulem P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rafnar T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wiste A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Magnusson KP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Manolescu A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorleifsson G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansson H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ingason A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stacey SN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bergthorsson JT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorlacius S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudmundsson J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonsson T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jakobsdottir M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Saemundsdottir J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Olafsdottir O', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudmundsson LJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bjornsdottir G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kristjansson K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Skuladottir H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Isaksson HJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudbjartsson T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jones GT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mueller T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gotts\\xe4ter A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Flex A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Aben KKH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'de Vegt F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mulders PFA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Isla D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vidal MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Asin L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Saez B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Murillo L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Blondal T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kolbeinsson H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansson JG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hansdottir I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Runarsdottir V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pola R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lindblad B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'van Rij AM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dieplinger B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Haltmayer M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mayordomo JI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kiemeney LA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Matthiasson SE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Oskarsson H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tyrfingsson T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudbjartsson DF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gulcher JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonsson S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorsteinsdottir U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kong A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansson K', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nature', u'chapter': u'', u'articleids': [{u'value': u'18385739', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'10.1038/nature06846', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC4539558', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS389111', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18385739', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18385739', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC4539558;manuscript-id: NIHMS389111;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'452'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Nicotine dependence", "rsid": "1051730"}], "chrom": "15", "pos": 78894339, "personal": false}, {"title": "Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.", "authors": "Amos CI", "abstract": "To identify risk variants for lung cancer, we conducted a\n multistage genome-wide association study. In the discovery phase, we analyzed\n 315,450 tagging SNPs in 1,154 current and former (ever) smoking cases of\n European ancestry and 1,137 frequency-matched, ever-smoking controls from\n Houston, Texas. For replication, we evaluated the ten SNPs most significantly\n associated with lung cancer in an additional 711 cases and 632 controls from\n Texas and 2,013 cases and 3,062 controls from the UK. Two SNPs, rs1051730 and\n rs8034191, mapping to a region of strong linkage disequilibrium within\n 15q25.1 containing PSMA4 and the nicotinic acetylcholine receptor subunit\n genes CHRNA3 and CHRNA5, were significantly associated with risk in both\n replication sets. Combined analysis yielded odds ratios of 1.32 (P < 1 x\n 10(-17)) for both SNPs. Haplotype analysis was consistent with there being a\n single risk variant in this region. We conclude that variation in a region of\n 15q25.1 containing nicotinic acetylcholine receptors genes contributes to\n lung cancer risk.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 511, "pubmed_id": "18385676", "published_on": "2008-04-03", "metadata": "{u'essn': u'1546-1718', u'pages': u'616-22', u'locationlabel': u'', u'pubdate': u'2008 May', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5', u'booktitle': u'', u'epubdate': u'2008 Apr 2', u'sorttitle': u'genome wide association scan of tag snps identifies a susceptibility locus for lung cancer at 15q25 1', u'lastauthor': u'Houlston RS', u'title': u'Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Amos CI', u'sortpubdate': u'2008/05/01 00:00', u'uid': u'18385676', u'pmcrefcount': 511, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/12/11 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/02/04 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/04/04 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/05/23 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/04/04 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.109', u'authors': [{u'name': u'Amos CI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wu X', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Broderick P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gorlov IP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gu J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Eisen T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dong Q', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zhang Q', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gu X', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vijayakrishnan J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sullivan K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Matakidou A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wang Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mills G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Doheny K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tsai YY', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chen WV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Shete S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Spitz MR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Houlston RS', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18385676', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.109', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.109', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2713680', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS115953', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18385676', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18385676', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2713680;manuscript-id: NIHMS115953;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "lung", "fun": false, "description": "Lung cancer", "rsid": "7626795"}, {"body_part": "lung", "fun": false, "description": "Lung cancer", "rsid": "8034191"}, {"body_part": "lung", "fun": false, "description": "Lung cancer", "rsid": "2808630"}], "chrom": "15", "pos": 78806023, "personal": true}, {"title": "A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.", "authors": "Liu Y", "abstract": "A genome-wide association study was performed to identify\n genetic factors involved in susceptibility to psoriasis (PS) and psoriatic\n arthritis (PSA), inflammatory diseases of the skin and joints in humans. 223\n PS cases (including 91 with PSA) were genotyped with 311,398 single\n nucleotide polymorphisms (SNPs), and results were compared with those from\n 519 Northern European controls. Replications were performed with an\n independent cohort of 577 PS cases and 737 controls from the U.S., and 576\n PSA patients and 480 controls from the U.K.. Strongest associations were with\n the class I region of the major histocompatibility complex (MHC). The most\n highly associated SNP was rs10484554, which lies 34.7 kb upstream from HLA-C\n (P = 7.8x10(-11), GWA scan; P = 1.8x10(-30), replication; P = 1.8x10(-39),\n combined; U.K. PSA: P = 6.9x10(-11)). However, rs2395029 encoding the G2V\n polymorphism within the class I gene HCP5 (combined P = 2.13x10(-26) in U.S.\n cases) yielded the highest ORs with both PS and PSA (4.1 and 3.2\n respectively). This variant is associated with low viral set point following\n HIV infection and its effect is independent of rs10484554. We replicated the\n previously reported association with interleukin 23 receptor and interleukin\n 12B (IL12B) polymorphisms in PS and PSA cohorts (IL23R: rs11209026, U.S. PS,\n P = 1.4x10(-4); U.K. PSA: P = 8.0x10(-4); IL12B:rs6887695, U.S. PS, P =\n 5x10(-5) and U.K. PSA, P = 1.3x10(-3)) and detected an independent\n association in the IL23R region with a SNP 4 kb upstream from IL12RB2 (P =\n 0.001). Novel associations replicated in the U.S. PS cohort included the\n region harboring lipoma HMGIC fusion partner (LHFP) and conserved oligomeric\n golgi complex component 6 (COG6) genes on chromosome 13q13 (combined P =\n 2x10(-6) for rs7993214; OR = 0.71), the late cornified envelope gene cluster\n (LCE) from the Epidermal Differentiation Complex (PSORS4) (combined P =\n 6.2x10(-5) for rs6701216; OR 1.45) and a region of LD at 15q21 (combined P =\n 2.9x10(-5) for rs3803369; OR = 1.43). This region is of interest because it\n harbors ubiquitin-specific protease-8 whose processed pseudogene lies\n upstream from HLA-C. This region of 15q21 also harbors the gene for SPPL2A\n (signal peptide peptidase like 2a) which activates tumor necrosis factor\n alpha by cleavage, triggering the expression of IL12 in human dendritic\n cells. We also identified a novel PSA (and potentially PS) locus on\n chromosome 4q27. This region harbors the interleukin 2 (IL2) and interleukin\n 21 (IL21) genes and was recently shown to be associated with four autoimmune\n diseases (Celiac disease, Type 1 diabetes, Grave's disease and Rheumatoid\n Arthritis).", "journal": {"name": "PLoS Genet", "impact_factor": 0.0}, "refcount": 148, "pubmed_id": "18369459", "published_on": "2008-04-04", "metadata": "{u'essn': u'1553-7404', u'pages': u'e1000041', u'locationlabel': u'', u'pubdate': u'2008 Mar 28', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'3', u'booktitle': u'', u'epubdate': u'2008 Mar 28', u'sorttitle': u'genome wide association study of psoriasis and psoriatic arthritis identifies new disease loci', u'lastauthor': u'Bowcock AM', u'title': u'A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.', u'fulljournalname': u'PLoS genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Liu Y', u'sortpubdate': u'2008/03/28 00:00', u'uid': u'18369459', u'pmcrefcount': 148, u'pubstatus': u'3', u'history': [{u'pubstatus': u'received', u'date': u'2007/09/27 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/02/28 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/03/29 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/06/13 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/03/29 09:00'}], u'issn': u'1553-7390', u'nlmuniqueid': u'101239074', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 20476959, u'refsource': u'Expert Rev Clin Immunol. 2008 Sep;4(5):565-71', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1371/journal.pgen.1000041', u'authors': [{u'name': u'Liu Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Helms C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Liao W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zaba LC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Duan S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gardner J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wise C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Miner A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Malloy MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pullinger CR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kane JP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Saccone S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Worthington J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bruce I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kwok PY', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Menter A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Krueger J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barton A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Saccone NL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bowcock AM', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'PLoS Genet', u'chapter': u'', u'articleids': [{u'value': u'18369459', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'10.1371/journal.pgen.1000041', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2274885', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'18369459', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18369459', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2274885;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'4'}", "phenotypes": [{"body_part": "skin", "fun": false, "description": "Psoriasis", "rsid": "7993214"}, {"body_part": "skin", "fun": false, "description": "Psoriasis", "rsid": "2395029"}, {"body_part": "skin", "fun": false, "description": "Psoriasis", "rsid": "10484554"}], "chrom": "13", "pos": 40350912, "personal": false}, {"title": "Identification of ten loci associated with height highlights new biological pathways in human growth.", "authors": "Lettre G", "abstract": "Height is a classic polygenic trait, reflecting the combined\n influence of multiple as-yet-undiscovered genetic factors. We carried out a\n meta-analysis of genome-wide association study data of height from 15,821\n individuals at 2.2 million SNPs, and followed up the strongest findings in\n >10,000 subjects. Ten newly identified and two previously reported loci were\n strongly associated with variation in height (P values from 4 x 10(-7) to 8 x\n 10(-22)). Together, these 12 loci account for approximately 2% of the\n population variation in height. Individuals with < or =8 height-increasing\n alleles and > or =16 height-increasing alleles differ in height by\n approximately 3.5 cm. The newly identified loci, along with several\n additional loci with strongly suggestive associations, encompass both strong\n biological candidates and unexpected genes, and highlight several pathways\n (let-7 targets, chromatin remodeling proteins and Hedgehog signaling) as\n important regulators of human stature. These results expand the picture of\n the biological regulation of human height and of the genetic architecture of\n this classical complex trait.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 232, "pubmed_id": "18391950", "published_on": "2008-04-06", "metadata": "{u'essn': u'1546-1718', u'pages': u'584-91', u'locationlabel': u'', u'pubdate': u'2008 May', u'medium': u'', u'pubtype': [u'Journal Article', u'Meta-Analysis'], u'availablefromurl': u'', u'issue': u'5', u'booktitle': u'', u'epubdate': u'2008 Apr 6', u'sorttitle': u'identification of ten loci associated with height highlights new biological pathways in human growth', u'lastauthor': u'Hirschhorn JN', u'title': u'Identification of ten loci associated with height highlights new biological pathways in human growth.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Lettre G', u'sortpubdate': u'2008/05/01 00:00', u'uid': u'18391950', u'pmcrefcount': 232, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/11/15 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/02/12 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/04/09 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/05/23 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/04/09 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18443579, u'refsource': u'Nat Genet. 2008 May;40(5):489-90', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.125', u'authors': [{u'name': u'Lettre G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jackson AU', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gieger C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schumacher FR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Berndt SI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sanna S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Eyheramendy S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Voight BF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Butler JL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Guiducci C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Illig T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hackett R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heid IM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jacobs KB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lyssenko V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Uda M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Diabetes Genetics Initiative.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'FUSION.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'KORA.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Prostate, Lung Colorectal and Ovarian Cancer Screening Trial.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u\"Nurses' Health Study.\", u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'SardiNIA.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Boehnke M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chanock SJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Groop LC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hu FB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Isomaa B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kraft P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Peltonen L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Salomaa V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schlessinger D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hunter DJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hayes RB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Abecasis GR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wichmann HE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mohlke KL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hirschhorn JN', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18391950', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.125', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.125', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2687076', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'UKMS4360', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18391950', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18391950', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2687076;manuscript-id: UKMS4360;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Height", "rsid": "12449568"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "2040494"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "9650315"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "12986413"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "4896582"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "1492820"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "10946808"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "1042725"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "314277"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "17104630"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "7869550"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "2562784"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "8007661"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "6060369"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "2730245"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "7466269"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "763014"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "724016"}], "chrom": "17", "pos": 54430155, "personal": false}, {"title": "Genome-wide association analysis identifies 20 loci that influence adult height.", "authors": "Weedon MN", "abstract": "Adult height is a model polygenic trait, but there has been\n limited success in identifying the genes underlying its normal variation. To\n identify genetic variants influencing adult human height, we used genome-wide\n association data from 13,665 individuals and genotyped 39 variants in an\n additional 16,482 samples. We identified 20 variants associated with adult\n height (P < 5 x 10(-7), with 10 reaching P < 1 x 10(-10)). Combined, the 20\n SNPs explain approximately 3% of height variation, with a approximately 5 cm\n difference between the 6.2% of people with 17 or fewer 'tall' alleles\n compared to the 5.5% with 27 or more 'tall' alleles. The loci we identified\n implicate genes in Hedgehog signaling (IHH, HHIP, PTCH1), extracellular\n matrix (EFEMP1, ADAMTSL3, ACAN) and cancer (CDK6, HMGA2, DLEU7) pathways, and\n provide new insights into human growth and developmental processes. Finally,\n our results provide insights into the genetic architecture of a classic\n quantitative trait.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 289, "pubmed_id": "18391952", "published_on": "2008-04-06", "metadata": "{u'essn': u'1546-1718', u'pages': u'575-83', u'locationlabel': u'', u'pubdate': u'2008 May', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5', u'booktitle': u'', u'epubdate': u'2008 Apr 6', u'sorttitle': u'genome wide association analysis identifies 20 loci that influence adult height', u'lastauthor': u'Frayling TM', u'title': u'Genome-wide association analysis identifies 20 loci that influence adult height.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Weedon MN', u'sortpubdate': u'2008/05/01 00:00', u'uid': u'18391952', u'pmcrefcount': 289, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/11/21 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/02/06 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/04/09 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/05/23 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/04/09 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18443579, u'refsource': u'Nat Genet. 2008 May;40(5):489-90', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.121', u'authors': [{u'name': u'Weedon MN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lango H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lindgren CM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wallace C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Evans DM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mangino M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Freathy RM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Perry JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stevens S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hall AS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Samani NJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Shields B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Prokopenko I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Farrall M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dominiczak A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Diabetes Genetics Initiative.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Wellcome Trust Case Control Consortium.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Johnson T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bergmann S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Beckmann JS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vollenweider P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Waterworth DM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mooser V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Palmer CN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Morris AD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ouwehand WH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cambridge GEM Consortium.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Zhao JH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Li S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Loos RJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barroso I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Deloukas P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sandhu MS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wheeler E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Soranzo N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Inouye M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wareham NJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Caulfield M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Munroe PB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hattersley AT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McCarthy MI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Frayling TM', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18391952', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.121', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.121', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2681221', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'UKMS4442', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18391952', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18391952', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2681221;manuscript-id: UKMS4442;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Height", "rsid": "6060373"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "16896068"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "1042725"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "10906982"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "1390401"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "4549631"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "10512248"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "12735613"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "3116602"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "6686842"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "10935120"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "8041863"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "8099594"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "6724465"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "11107116"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "2814993"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "6440003"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "3791675"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "6854783"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "2282978"}], "chrom": "20", "pos": 33914208, "personal": false}, {"title": "Many sequence variants affecting diversity of adult human height.", "authors": "Gudbjartsson DF", "abstract": "Adult human height is one of the classical complex human traits.\n We searched for sequence variants that affect height by scanning the genomes\n of 25,174 Icelanders, 2,876 Dutch, 1,770 European Americans and 1,148 African\n Americans. We then combined these results with previously published results\n from the Diabetes Genetics Initiative on 3,024 Scandinavians and tested a\n selected subset of SNPs in 5,517 Danes. We identified 27 regions of the\n genome with one or more sequence variants showing significant association\n with height. The estimated effects per allele of these variants ranged\n between 0.3 and 0.6 cm and, taken together, they explain around 3.7% of the\n population variation in height. The genes neighboring the identified loci\n cluster in biological processes related to skeletal development and mitosis.\n Association to three previously reported loci are replicated in our analyses,\n and the strongest association was with SNPs in the ZBTB38 gene.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 222, "pubmed_id": "18391951", "published_on": "2008-04-06", "metadata": "{u'essn': u'1546-1718', u'pages': u'609-15', u'locationlabel': u'', u'pubdate': u'2008 May', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5', u'booktitle': u'', u'epubdate': u'2008 Apr 6', u'sorttitle': u'many sequence variants affecting diversity of adult human height', u'lastauthor': u'Stefansson K', u'title': u'Many sequence variants affecting diversity of adult human height.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Gudbjartsson DF', u'sortpubdate': u'2008/05/01 00:00', u'uid': u'18391951', u'pmcrefcount': 222, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/12/13 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/02/15 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/04/09 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/05/23 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/04/09 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18443579, u'refsource': u'Nat Genet. 2008 May;40(5):489-90', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.122', u'authors': [{u'name': u'Gudbjartsson DF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Walters GB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorleifsson G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansson H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Halldorsson BV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zusmanovich P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sulem P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorlacius S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gylfason A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Steinberg S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Helgadottir A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ingason A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Steinthorsdottir V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Olafsdottir EJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Olafsdottir GH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonsson T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Borch-Johnsen K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hansen T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Andersen G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jorgensen T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pedersen O', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Aben KK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Witjes JA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Swinkels DW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'den Heijer M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Franke B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Verbeek AL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Becker DM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yanek LR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Becker LC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tryggvadottir L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rafnar T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gulcher J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kiemeney LA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kong A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorsteinsdottir U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansson K', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18391951', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.122', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.122', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18391951', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18391951', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Height", "rsid": "6763931"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "798544"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "4794665"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "1812175"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "749052"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "1490388"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "3791679"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "1776897"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "6830062"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "2282978"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "7846385"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "4743034"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "757608"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "6733301"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "1052483"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "4345115"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "9395066"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "3825199"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "2326458"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "11177669"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "2814828"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "1474563"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "6088792"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "7153027"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "3760318"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "5751614"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "4800148"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "2274432"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "7249094"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "7209435"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "11611208"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "2187642"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "946053"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "314268"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "12199222"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "710841"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "8756"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "10958476"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "4713858"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "185819"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "10946808"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "11205277"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "31198"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "4533267"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "1239947"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "678962"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "6899976"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "2554380"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "967417"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "3748069"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "9487094"}, {"body_part": "", "fun": false, "description": "Height", "rsid": "12198986"}], "chrom": "3", "pos": 141102833, "personal": false}, {"title": "Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function.", "authors": "Ober C", "abstract": "The chitinase-like protein YKL-40 is involved in\n inflammation and tissue remodeling. We recently showed that serum YKL-40\n levels were elevated in patients with asthma and were correlated with\n severity, thickening of the subepithelial basement membrane, and pulmonary\n function. We hypothesized that single-nucleotide polymorphisms (SNPs) that\n affect YKL-40 levels also influence asthma status and lung function. METHODS:\n We carried out a genomewide association study of serum YKL-40 levels in a\n founder population of European descent, the Hutterites, and then tested for\n an association between an implicated SNP and asthma and lung function. One\n associated variant was genotyped in a birth cohort at high risk for asthma,\n in which YKL-40 levels were measured from birth through 5 years of age, and\n in two populations of unrelated case patients of European descent with asthma\n and controls. RESULTS: A promoter SNP (-131C-->G) in CHI3L1, the chitinase\n 3-like 1 gene encoding YKL-40, was associated with elevated serum YKL-40\n levels (P=1.1 x 10(-13)), asthma (P=0.047), bronchial hyperresponsiveness\n (P=0.002), and measures of pulmonary function (P=0.046 to 0.002) in the\n Hutterites. The same SNP could be used to predict the presence of asthma in\n the two case-control populations (combined P=1.2 x 10(-5)) and serum YKL-40\n levels at birth (in cord-blood specimens) through 5 years of age in the birth\n cohort (P=8.9 x 10(-3) to 2.5 x 10(-4)). CONCLUSIONS: CHI3L1 is a\n susceptibility gene for asthma, bronchial hyperresponsiveness, and reduced\n lung function, and elevated circulating YKL-40 levels are a biomarker for\n asthma and decline in lung function.", "journal": {"name": "N Engl J Med", "impact_factor": 0.0}, "refcount": 152, "pubmed_id": "18403759", "published_on": "2008-04-09", "metadata": "{u'essn': u'1533-4406', u'pages': u'1682-91', u'locationlabel': u'', u'pubdate': u'2008 Apr 17', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'16', u'booktitle': u'', u'epubdate': u'2008 Apr 9', u'sorttitle': u'effect of variation in chi3l1 on serum ykl 40 level risk of asthma and lung function', u'lastauthor': u'Chupp GL', u'title': u'Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function.', u'fulljournalname': u'The New England journal of medicine', u'publisherlocation': u'', u'sortfirstauthor': u'Ober C', u'sortpubdate': u'2008/04/17 00:00', u'uid': u'18403759', u'pmcrefcount': 152, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2008/04/12 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/04/23 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/04/12 09:00'}], u'issn': u'0028-4793', u'nlmuniqueid': u'0255562', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18403760, u'refsource': u'N Engl J Med. 2008 Apr 17;358(16):1725-6', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1056/NEJMoa0708801', u'authors': [{u'name': u'Ober C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tan Z', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sun Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Possick JD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pan L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nicolae R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Radford S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Parry RR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heinzmann A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Deichmann KA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lester LA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gern JE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lemanske RF Jr', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nicolae DL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Elias JA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chupp GL', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'N Engl J Med', u'chapter': u'', u'articleids': [{u'value': u'18403759', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'NEJMoa0708801', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1056/NEJMoa0708801', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2629486', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS76223', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18403759', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18403759', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2629486;manuscript-id: NIHMS76223;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'358'}", "phenotypes": [{"body_part": "", "fun": false, "description": "YKL-40 levels", "rsid": "4950928"}], "chrom": "1", "pos": 203155882, "personal": false}, {"title": "Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.", "authors": "Reiner AP", "abstract": "Data from the Pharmacogenomics and Risk of Cardiovascular\n Disease (PARC) study and the Cardiovascular Health Study (CHS) provide\n independent and confirmatory evidence for association between common\n polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha\n and plasma C-reactive protein (CRP) concentration. Analyses with the use of\n imputation-based methods to combine genotype data from both studies and to\n test untyped SNPs from the HapMap database identified several SNPs within a 5\n kb region of HNF1A intron 1 with the strongest evidence of association with\n CRP phenotype.", "journal": {"name": "Am J Hum Genet", "impact_factor": 0.0}, "refcount": 69, "pubmed_id": "18439552", "published_on": "2008-04-24", "metadata": "{u'essn': u'1537-6605', u'pages': u'1193-201', u'locationlabel': u'', u'pubdate': u'2008 May', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5', u'booktitle': u'', u'epubdate': u'2008 Apr 24', u'sorttitle': u'polymorphisms of the hnf1a gene encoding hepatocyte nuclear factor 1 alpha are associated with c reactive protein', u'lastauthor': u'Krauss RM', u'title': u'Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.', u'fulljournalname': u'American journal of human genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Reiner AP', u'sortpubdate': u'2008/05/01 00:00', u'uid': u'18439552', u'pmcrefcount': 69, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2008/01/07 00:00'}, {u'pubstatus': u'revised', u'date': u'2008/03/16 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/03/31 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/04/29 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/07/17 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/04/29 09:00'}], u'issn': u'0002-9297', u'nlmuniqueid': u'0370475', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1016/j.ajhg.2008.03.017', u'authors': [{u'name': u'Reiner AP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barber MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Guan Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ridker PM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lange LA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chasman DI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Walston JD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cooper GM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jenny NS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rieder MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Durda JP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Smith JD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Novembre J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tracy RP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rotter JI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stephens M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nickerson DA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Krauss RM', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Am J Hum Genet', u'chapter': u'', u'articleids': [{u'value': u'18439552', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'S0002-9297(08)00227-9', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1016/j.ajhg.2008.03.017', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2427318', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'18439552', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18439552', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2427318;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'82'}", "phenotypes": [{"body_part": "", "fun": false, "description": "C-reactive protein", "rsid": "1169310"}, {"body_part": "", "fun": false, "description": "C-reactive protein", "rsid": "11265260"}, {"body_part": "", "fun": false, "description": "C-reactive protein", "rsid": "2075650"}], "chrom": "12", "pos": 121439433, "personal": true}, {"title": "Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.", "authors": "Ridker PM", "abstract": "Although elevated levels of C-reactive protein (CRP)\n independently predict increased risk of development of metabolic syndrome,\n diabetes, myocardial infarction, and stroke, comprehensive analysis of the\n influence of genetic variation on CRP is not available. To address this\n issue, we performed a genome-wide association study among 6345 apparently\n healthy women in which we evaluated 336,108 SNPs as potential determinants of\n plasma CRP concentration. Overall, seven loci that associate with plasma CRP\n at levels achieving genome-wide statistical significance were found (range of\n p values for lead SNPs within the seven loci: 1.9 x 10(-)(8) to 6.2 x\n 10(-)(28)). Two of these loci (GCKR and HNF1A) are suspected or known to be\n associated with maturity-onset diabetes of the young, one is a gene-desert\n region on 12q23.2, and the remaining four loci are in or near the leptin\n receptor protein gene, the apolipoprotein E gene, the interleukin-6 receptor\n protein gene, or the CRP gene itself. The protein products of six of these\n seven loci are directly involved in metabolic syndrome, insulin resistance,\n beta cell function, weight homeostasis, and/or premature atherothrombosis.\n Thus, common variation in several genes involved in metabolic and\n inflammatory regulation have significant effects on CRP levels, consistent\n with CRP's identification as a useful biomarker of risk for incident vascular\n disease and diabetes.", "journal": {"name": "Am J Hum Genet", "impact_factor": 0.0}, "refcount": 115, "pubmed_id": "18439548", "published_on": "2008-04-24", "metadata": "{u'essn': u'1537-6605', u'pages': u'1185-92', u'locationlabel': u'', u'pubdate': u'2008 May', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5', u'booktitle': u'', u'epubdate': u'2008 Apr 24', u'sorttitle': u'loci related to metabolic syndrome pathways including lepr hnf1a il6r and gckr associate with plasma c reactive protein the women s genome health study', u'lastauthor': u'Chasman DI', u'title': u\"Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.\", u'fulljournalname': u'American journal of human genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Ridker PM', u'sortpubdate': u'2008/05/01 00:00', u'uid': u'18439548', u'pmcrefcount': 115, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2008/01/07 00:00'}, {u'pubstatus': u'revised', u'date': u'2008/03/12 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/03/17 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/04/29 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/07/17 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/04/29 09:00'}], u'issn': u'0002-9297', u'nlmuniqueid': u'0370475', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1016/j.ajhg.2008.03.015', u'authors': [{u'name': u'Ridker PM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pare G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Parker A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zee RY', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Danik JS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Buring JE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kwiatkowski D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cook NR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Miletich JP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chasman DI', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Am J Hum Genet', u'chapter': u'', u'articleids': [{u'value': u'18439548', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'S0002-9297(08)00225-5', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1016/j.ajhg.2008.03.015', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2427311', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'18439548', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18439548', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2427311;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'82'}", "phenotypes": [{"body_part": "", "fun": false, "description": "C-reactive protein", "rsid": "1892534"}, {"body_part": "", "fun": false, "description": "C-reactive protein", "rsid": "7310409"}, {"body_part": "", "fun": false, "description": "C-reactive protein", "rsid": "780094"}, {"body_part": "", "fun": false, "description": "C-reactive protein", "rsid": "769449"}, {"body_part": "", "fun": false, "description": "C-reactive protein", "rsid": "10778213"}, {"body_part": "", "fun": false, "description": "C-reactive protein", "rsid": "3091244"}, {"body_part": "", "fun": false, "description": "C-reactive protein", "rsid": "2228145"}], "chrom": "1", "pos": 66105944, "personal": false}, {"title": "Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.", "authors": "Richards JB", "abstract": "Osteoporosis is diagnosed by the measurement of bone\n mineral density, which is a highly heritable and multifactorial trait. We\n aimed to identify genetic loci that are associated with bone mineral density.\n METHODS: In this genome-wide association study, we identified the most\n promising of 314 075 single nucleotide polymorphisms (SNPs) in 2094 women in\n a UK study. We then tested these SNPs for replication in 6463 people from\n three other cohorts in western Europe. We also investigated allelic\n expression in lymphoblast cell lines. We tested the association between the\n replicated SNPs and osteoporotic fractures with data from two studies.\n FINDINGS: We identified genome-wide evidence for an association between bone\n mineral density and two SNPs (p<5x10(-8)). The SNPs were rs4355801, on\n chromosome 8, near to the TNFRSF11B (osteoprotegerin) gene, and rs3736228, on\n chromosome 11 in the LRP5 (lipoprotein-receptor-related protein) gene. A\n non-synonymous SNP in the LRP5 gene was associated with decreased bone\n mineral density (rs3736228, p=6.3x10(-12) for lumbar spine and p=1.9x10(-4)\n for femoral neck) and an increased risk of both osteoporotic fractures (odds\n ratio [OR] 1.3, 95% CI 1.09-1.52, p=0.002) and osteoporosis (OR 1.3,\n 1.08-1.63, p=0.008). Three SNPs near the TNFRSF11B gene were associated with\n decreased bone mineral density (top SNP, rs4355801: p=7.6x10(-10) for lumbar\n spine and p=3.3x10(-8) for femoral neck) and increased risk of osteoporosis\n (OR 1.2, 95% CI 1.01-1.42, p=0.038). For carriers of the risk allele at\n rs4355801, expression of TNFRSF11B in lymphoblast cell lines was halved\n (p=3.0x10(-6)). 1883 (22%) of 8557 people were at least heterozygous for\n these risk alleles, and these alleles had a cumulative association with bone\n mineral density (trend p=2.3x10(-17)). The presence of both risk alleles\n increased the risk of osteoporotic fractures (OR 1.3, 1.08-1.63, p=0.006) and\n this effect was independent of bone mineral density. INTERPRETATION: Two gene\n variants of key biological proteins increase the risk of osteoporosis and\n osteoporotic fracture. The combined effect of these risk alleles on fractures\n is similar to that of most well-replicated environmental risk factors, and\n they are present in more than one in five white people, suggesting a\n potential role in screening.", "journal": {"name": "Lancet", "impact_factor": 0.0}, "refcount": 191, "pubmed_id": "18455228", "published_on": "2008-04-29", "metadata": "{u'essn': u'1474-547X', u'pages': u'1505-12', u'locationlabel': u'', u'pubdate': u'2008 May 3', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'9623', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'bone mineral density osteoporosis and osteoporotic fractures a genome wide association study', u'lastauthor': u'Spector TD', u'title': u'Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.', u'fulljournalname': u'Lancet (London, England)', u'publisherlocation': u'', u'sortfirstauthor': u'Richards JB', u'sortpubdate': u'2008/05/03 00:00', u'uid': u'18455228', u'pmcrefcount': 191, u'pubstatus': u'4', u'history': [{u'pubstatus': u'pubmed', u'date': u'2008/05/06 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/05/16 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/05/06 09:00'}], u'issn': u'0140-6736', u'nlmuniqueid': u'2985213R', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18970970, u'refsource': u'Lancet. 2008 Oct 25;372(9648):1459-60; author reply 1460', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': 18455229, u'refsource': u'Lancet. 2008 May 3;371(9623):1479-80', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1016/S0140-6736(08)60599-1', u'authors': [{u'name': u'Richards JB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rivadeneira F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Inouye M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pastinen TM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Soranzo N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wilson SG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Andrew T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Falchi M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gwilliam R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ahmadi KR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Valdes AM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Arp P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Whittaker P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Verlaan DJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jhamai M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kumanduri V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Moorhouse M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'van Meurs JB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hofman A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pols HA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hart D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zhai G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kato BS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mullin BH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zhang F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Deloukas P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Uitterlinden AG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Spector TD', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Lancet', u'chapter': u'', u'articleids': [{u'value': u'18455228', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'S0140-6736(08)60599-1', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1016/S0140-6736(08)60599-1', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2679414', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'UKMS4496', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18455228', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18455228', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2679414;manuscript-id: UKMS4496;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'371'}", "phenotypes": [{"body_part": "bone", "fun": false, "description": "Bone mineral density", "rsid": "3736228"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density", "rsid": "4355801"}], "chrom": "8", "pos": 119923873, "personal": false}, {"title": "Multiple genetic loci for bone mineral density and fractures.", "authors": "Styrkarsdottir U", "abstract": "Bone mineral density influences the risk of\n osteoporosis later in life and is useful in the evaluation of the risk of\n fracture. We aimed to identify sequence variants associated with bone mineral\n density and fracture. METHODS: We performed a quantitative trait analysis of\n data from 5861 Icelandic subjects (the discovery set), testing for an\n association between 301,019 single-nucleotide polymorphisms (SNPs) and bone\n mineral density of the hip and lumbar spine. We then tested for an\n association between 74 SNPs (most of which were implicated in the discovery\n set) at 32 loci in replication sets of Icelandic, Danish, and Australian\n subjects (4165, 2269, and 1491 subjects, respectively). RESULTS: Sequence\n variants in five genomic regions were significantly associated with bone\n mineral density in the discovery set and were confirmed in the replication\n sets (combined P values, 1.2x10(-7) to 2.0x10(-21)). Three regions are close\n to or within genes previously shown to be important to the biologic\n characteristics of bone: the receptor activator of nuclear factor-kappaB\n ligand gene (RANKL) (chromosomal location, 13q14), the osteoprotegerin gene\n (OPG) (8q24), and the estrogen receptor 1 gene (ESR1) (6q25). The two other\n regions are close to the zinc finger and BTB domain containing 40 gene\n (ZBTB40) (1p36) and the major histocompatibility complex region (6p21). The\n 1p36, 8q24, and 6p21 loci were also associated with osteoporotic fractures,\n as were loci at 18q21, close to the receptor activator of the nuclear\n factor-kappaB gene (RANK), and loci at 2p16 and 11p11. CONCLUSIONS: We have\n discovered common sequence variants that are consistently associated with\n bone mineral density and with low-trauma fractures in three populations of\n European descent. Although these variants alone are not clinically useful in\n the prediction of risk to the individual person, they provide insight into\n the biochemical pathways underlying osteoporosis.", "journal": {"name": "N Engl J Med", "impact_factor": 0.0}, "refcount": 188, "pubmed_id": "18445777", "published_on": "2008-04-29", "metadata": "{u'essn': u'1533-4406', u'pages': u'2355-65', u'locationlabel': u'', u'pubdate': u'2008 May 29', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'22', u'booktitle': u'', u'epubdate': u'2008 Apr 29', u'sorttitle': u'multiple genetic loci for bone mineral density and fractures', u'lastauthor': u'Stefansson K', u'title': u'Multiple genetic loci for bone mineral density and fractures.', u'fulljournalname': u'The New England journal of medicine', u'publisherlocation': u'', u'sortfirstauthor': u'Styrkarsdottir U', u'sortpubdate': u'2008/05/29 00:00', u'uid': u'18445777', u'pmcrefcount': 188, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2008/05/01 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/06/05 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/05/01 09:00'}], u'issn': u'0028-4793', u'nlmuniqueid': u'0255562', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18445778, u'refsource': u'N Engl J Med. 2008 May 29;358(22):2403-5', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1056/NEJMoa0801197', u'authors': [{u'name': u'Styrkarsdottir U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Halldorsson BV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gretarsdottir S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudbjartsson DF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Walters GB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ingvarsson T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jonsdottir T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Saemundsdottir J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Center JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nguyen TV', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bagger Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gulcher JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Eisman JA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Christiansen C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sigurdsson G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kong A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorsteinsdottir U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansson K', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'N Engl J Med', u'chapter': u'', u'articleids': [{u'value': u'18445777', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'NEJMoa0801197', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1056/NEJMoa0801197', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18445777', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18445777', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'358'}", "phenotypes": [{"body_part": "bone", "fun": false, "description": "Bone mineral density (hip)", "rsid": "7524102"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density (hip)", "rsid": "6993813"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density (hip)", "rsid": "9594738"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density (spine)", "rsid": "7524102"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density (spine)", "rsid": "3130340"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density (spine)", "rsid": "4870044"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density (spine)", "rsid": "6469804"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density (spine)", "rsid": "9594759"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density (spine)", "rsid": "1038304"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density (spine)", "rsid": "1999805"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density (hip)", "rsid": "4870044"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density (hip)", "rsid": "1038304"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density (hip)", "rsid": "3018362"}, {"body_part": "bone", "fun": false, "description": "Bone mineral density (spine)", "rsid": "11898505"}], "chrom": "1", "pos": 22698447, "personal": false}, {"title": "Common genetic variation near MC4R is associated with waist circumference and insulin resistance.", "authors": "Chambers JC", "abstract": "We carried out a genome-wide association study (318,237 SNPs)\n for insulin resistance and related phenotypes in 2,684 Indian Asians, with\n further testing in 11,955 individuals of Indian Asian or European ancestry.\n We found associations of rs12970134 near MC4R with waist circumference (P =\n 1.7 x 10(-9)) and, independently, with insulin resistance. Homozygotes for\n the risk allele of rs12970134 have approximately 2 cm increased waist\n circumference. Common genetic variation near MC4R is associated with risk of\n adiposity and insulin resistance.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 166, "pubmed_id": "18454146", "published_on": "2008-05-04", "metadata": "{u'essn': u'1546-1718', u'pages': u'716-8', u'locationlabel': u'', u'pubdate': u'2008 Jun', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'6', u'booktitle': u'', u'epubdate': u'2008 May 4', u'sorttitle': u'common genetic variation near mc4r is associated with waist circumference and insulin resistance', u'lastauthor': u'Kooner JS', u'title': u'Common genetic variation near MC4R is associated with waist circumference and insulin resistance.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Chambers JC', u'sortpubdate': u'2008/06/01 00:00', u'uid': u'18454146', u'pmcrefcount': 166, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2008/01/29 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/04/15 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/05/06 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/06/20 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/05/06 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.156', u'authors': [{u'name': u'Chambers JC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Elliott P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zabaneh D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zhang W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Li Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Froguel P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Balding D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Scott J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kooner JS', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18454146', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.156', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.156', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18454146', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18454146', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "weight", "fun": false, "description": "Waist circumference and related phenotypes", "rsid": "12970134"}, {"body_part": "weight", "fun": false, "description": "Waist circumference and related phenotypes", "rsid": "1260326"}, {"body_part": "weight", "fun": false, "description": "Waist circumference and related phenotypes", "rsid": "2083637"}, {"body_part": "weight", "fun": false, "description": "Waist circumference and related phenotypes", "rsid": "3764261"}], "chrom": "18", "pos": 57884750, "personal": false}, {"title": "Common variants near MC4R are associated with fat mass, weight and risk of obesity.", "authors": "Loos RJ", "abstract": "To identify common variants influencing body mass index (BMI),\n we analyzed genome-wide association data from 16,876 individuals of European\n descent. After previously reported variants in FTO, the strongest association\n signal (rs17782313, P = 2.9 x 10(-6)) mapped 188 kb downstream of MC4R\n (melanocortin-4 receptor), mutations of which are the leading cause of\n monogenic severe childhood-onset obesity. We confirmed the BMI association in\n 60,352 adults (per-allele effect = 0.05 Z-score units; P = 2.8 x 10(-15)) and\n 5,988 children aged 7-11 (0.13 Z-score units; P = 1.5 x 10(-8)). In\n case-control analyses (n = 10,583), the odds for severe childhood obesity\n reached 1.30 (P = 8.0 x 10(-11)). Furthermore, we observed overtransmission\n of the risk allele to obese offspring in 660 families (P (pedigree\n disequilibrium test average; PDT-avg) = 2.4 x 10(-4)). The SNP location and\n patterns of phenotypic associations are consistent with effects mediated\n through altered MC4R function. Our findings establish that common variants\n near MC4R influence fat mass, weight and obesity risk at the population level\n and reinforce the need for large-scale data integration to identify variants\n influencing continuous biomedical traits.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 404, "pubmed_id": "18454148", "published_on": "2008-05-04", "metadata": "{u'essn': u'1546-1718', u'pages': u'768-75', u'locationlabel': u'', u'pubdate': u'2008 Jun', u'medium': u'', u'pubtype': [u'Journal Article', u'Multicenter Study'], u'availablefromurl': u'', u'issue': u'6', u'booktitle': u'', u'epubdate': u'2008 May 4', u'sorttitle': u'common variants near mc4r are associated with fat mass weight and risk of obesity', u'lastauthor': u'Mohlke KL', u'title': u'Common variants near MC4R are associated with fat mass, weight and risk of obesity.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Loos RJ', u'sortpubdate': u'2008/06/01 00:00', u'uid': u'18454148', u'pmcrefcount': 404, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/11/16 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/02/19 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/05/06 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/06/20 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/05/06 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.140', u'authors': [{u'name': u'Loos RJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lindgren CM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Li S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wheeler E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zhao JH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Prokopenko I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Inouye M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Freathy RM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Attwood AP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Beckmann JS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Berndt SI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Jacobs KB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chanock SJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hayes RB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bergmann S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bennett AJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bingham SA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bochud M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Brown M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cauchi S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Connell JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cooper C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Smith GD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Day I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dina C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'De S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dermitzakis ET', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Doney AS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Elliott KS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Elliott P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Evans DM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sadaf Farooqi I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Froguel P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ghori J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Groves CJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gwilliam R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hadley D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hall AS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hattersley AT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hebebrand J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heid IM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'KORA.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Lamina C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gieger C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Illig T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Meitinger T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wichmann HE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Herrera B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hinney A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hunt SE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jarvelin MR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Johnson T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jolley JD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Karpe F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Keniry A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Khaw KT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Luben RN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mangino M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Marchini J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McArdle WL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McGinnis R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Meyre D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Munroe PB', u'clusterid': u'', u'authtype': 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u'', u'authtype': u'CollectiveName'}, {u'name': u'Vogel CI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wallace C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Waterworth DM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Weedon MN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wellcome Trust Case Control Consortium.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Willer CJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'FUSION.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Wraight', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Yuan X', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zeggini E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hirschhorn JN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Strachan DP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ouwehand WH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Caulfield MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Samani NJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Frayling TM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vollenweider P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Waeber G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mooser V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Deloukas P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McCarthy MI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wareham NJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barroso I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jacobs KB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chanock SJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hayes RB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lamina C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gieger C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Illig T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Meitinger T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wichmann HE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kraft P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hankinson SE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hunter DJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hu FB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lyon HN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Voight BF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ridderstrale M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Groop L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Scheet P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sanna S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Abecasis GR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Albai G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nagaraja R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schlessinger D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jackson AU', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tuomilehto J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Collins FS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Boehnke M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mohlke KL', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18454148', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.140', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.140', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2669167', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'UKMS4362', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18454148', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18454148', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2669167;manuscript-id: UKMS4362;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "weight", "fun": true, "description": "Body mass index", "rsid": "17782313"}, {"body_part": "weight", "fun": true, "description": "Body mass index", "rsid": "1121980"}], "chrom": "18", "pos": 57851097, "personal": false}, {"title": "Genome-wide association scan identifies a prostaglandin-endoperoxide synthase 2 variant involved in risk of knee osteoarthritis.", "authors": "Valdes AM", "abstract": "Osteoarthritis (OA), the most prevalent form of arthritis in the\n elderly, is characterized by the degradation of articular cartilage and has a\n strong genetic component. Our aim was to identify genetic variants involved\n in risk of knee OA in women. A pooled genome-wide association scan with the\n Illumina550 Duo array was performed in 255 controls and 387 cases.\n Twenty-eight variants with p < 1 x 10(-5) were estimated to have\n probabilities of being false positives <or=0.5 and were genotyped\n individually in the original samples and in replication cohorts from the UK\n and the U.S. (599 and 272 cases, 1530 and 258 controls, respectively). The\n top seven associations were subsequently tested in samples from the\n Netherlands (306 cases and 584 controls). rs4140564 on chromosome 1 mapping 5\n' to both the PTGS2 and PLA2G4A genes was associated with risk of knee OA in\n all the cohorts studied (overall odds ratio OR(mh) = 1.55 95% C.I. 1.30-1.85,\n p < 6.9 x 10(-7)). Differential allelic expression analysis of PTGS2 with\n mRNA extracted from the cartilage of joint-replacement surgery OA patients\n revealed a significant difference in allelic expression (p < 1.0 x 10(-6)).\n These results suggest the existence of cis-acting regulatory polymorphisms\n that are in, or near to, PTGS2 and in modest linkage disequilibrium with\n rs4140564. Our results and previous studies on the role of the cyclooxygenase\n 2 enzyme encoded by PTGS2 underscore the importance of this signaling pathway\n in the pathogenesis of knee OA.", "journal": {"name": "Am J Hum Genet", "impact_factor": 0.0}, "refcount": 28, "pubmed_id": "18471798", "published_on": "2008-05-08", "metadata": "{u'essn': u'1537-6605', u'pages': u'1231-40', u'locationlabel': u'', u'pubdate': u'2008 Jun', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'6', u'booktitle': u'', u'epubdate': u'2008 May 8', u'sorttitle': u'genome wide association scan identifies a prostaglandin endoperoxide synthase 2 variant involved in risk of knee osteoarthritis', u'lastauthor': u'Spector TD', u'title': u'Genome-wide association scan identifies a prostaglandin-endoperoxide synthase 2 variant involved in risk of knee osteoarthritis.', u'fulljournalname': u'American journal of human genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Valdes AM', u'sortpubdate': u'2008/06/01 00:00', u'uid': u'18471798', u'pmcrefcount': 28, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2008/02/29 00:00'}, {u'pubstatus': u'revised', u'date': u'2008/04/11 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/04/21 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/05/13 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/06/28 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/05/13 09:00'}], u'issn': u'0002-9297', u'nlmuniqueid': u'0370475', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1016/j.ajhg.2008.04.006', u'authors': [{u'name': u'Valdes AM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Loughlin J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Timms KM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'van Meurs JJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Southam L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wilson SG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Doherty S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lories RJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Luyten FP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gutin A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Abkevich V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ge D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hofman A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Uitterlinden AG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hart DJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zhang F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zhai G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Egli RJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Doherty M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lanchbury J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Spector TD', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Am J Hum Genet', u'chapter': u'', u'articleids': [{u'value': u'18471798', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'S0002-9297(08)00266-8', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1016/j.ajhg.2008.04.006', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2427208', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'18471798', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18471798', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2427208;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'82'}", "phenotypes": [{"body_part": "bone", "fun": false, "description": "Knee osteoarthritis", "rsid": "4140564"}, {"body_part": "bone", "fun": false, "description": "Knee osteoarthritis", "rsid": "1207421"}], "chrom": "1", "pos": 186725003, "personal": false}, {"title": "A pilot genome-wide association study of early-onset breast cancer.", "authors": "Kibriya MG", "abstract": "High-density oligonucleotide microarrays containing a large\n number of single nucleotide polymorphisms (SNPs) have enabled genome-wide\n association (GWA) analysis to become a reality. We used the early access\n Affymetrix Mendel Nsp 250K chips in a GWA case-control pilot study to\n identify genomic regions associated with breast cancer. We included 30\n randomly sampled incident invasive breast cancer cases aged <45 years without\n deleterious mutations in the BRCA1 or BRCA2 genes, and 30 population controls\n individually matched on age, ethnicity and geographical area. The overall\n genotype call rate was 97.13+/-1.33% for controls and 97.48+/-1.42% for\n cases. Comparison was made between cases and controls for 203,477 genotyped\n SNPs using (a) unconditional logistic regression (ULR), (b) conditional\n logistic regression (CLR) models with adjustment for the matched pairs, (c)\n allelic tests for single marker tests and (d) haplotype trend regression\n (HTR). Genomic control and EIGENSTRAT methods were used for correction of\n population stratification in appropriate models. We demonstrate the\n similarity and dissimilarity of results from different statistical analyses.\n We found several possible significant regions harboring biologically\n meaningful known candidate genes, such as genes encoding fibroblast growth\n factor, transforming growth factor, epidermal growth factor, and estrogen\n synthesis enzymes to be associated with early-onset breast cancer. In single\n marker analysis, none of the SNPs were statistically significant after\n correction for multiple testing. However, haplotype association tests, using\n 90730 tag-SNPs, suggested two regions in GLG1 and UGT1 genes retaining\n significance even after Bonferroni correction. Nevertheless, without\n systematic replication, findings from this pilot study, especially the\n associations of breast cancer in relation to specific SNPs, should be\n interpreted with great caution.", "journal": {"name": "Breast Cancer Res Treat", "impact_factor": 0.0}, "refcount": 10, "pubmed_id": "18463975", "published_on": "2008-05-08", "metadata": "{u'essn': u'1573-7217', u'pages': u'463-77', u'locationlabel': u'', u'pubdate': u'2009 Apr', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'3', u'booktitle': u'', u'epubdate': u'2008 May 8', u'sorttitle': u'pilot genome wide association study of early onset breast cancer', u'lastauthor': u'Ahsan H', u'title': u'A pilot genome-wide association study of early-onset breast cancer.', u'fulljournalname': u'Breast cancer research and treatment', u'publisherlocation': u'', u'sortfirstauthor': u'Kibriya MG', u'sortpubdate': u'2009/04/01 00:00', u'uid': u'18463975', u'pmcrefcount': 10, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2007/10/03 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/04/21 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/05/09 09:00'}, {u'pubstatus': u'medline', u'date': u'2009/08/26 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/05/09 09:00'}], u'issn': u'0167-6806', u'nlmuniqueid': u'8111104', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1007/s10549-008-0039-9', u'authors': [{u'name': u'Kibriya MG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jasmine F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Argos M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Andrulis IL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'John EM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chang-Claude J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ahsan H', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Breast Cancer Res Treat', u'chapter': u'', u'articleids': [{u'value': u'18463975', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'10.1007/s10549-008-0039-9', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18463975', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18463975', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'114'}", "phenotypes": [{"body_part": "breast", "fun": false, "description": "Breast cancer", "rsid": "10871290"}], "chrom": "16", "pos": 74472696, "personal": false}, {"title": "A genome-wide association study identifies protein quantitative trait loci (pQTLs).", "authors": "Melzer D", "abstract": "There is considerable evidence that human genetic variation\n influences gene expression. Genome-wide studies have revealed that mRNA\n levels are associated with genetic variation in or close to the gene coding\n for those mRNA transcripts - cis effects, and elsewhere in the genome - trans\n effects. The role of genetic variation in determining protein levels has not\n been systematically assessed. Using a genome-wide association approach we\n show that common genetic variation influences levels of clinically relevant\n proteins in human serum and plasma. We evaluated the role of 496,032\n polymorphisms on levels of 42 proteins measured in 1200 fasting individuals\n from the population based InCHIANTI study. Proteins included insulin, several\n interleukins, adipokines, chemokines, and liver function markers that are\n implicated in many common diseases including metabolic, inflammatory, and\n infectious conditions. We identified eight Cis effects, including variants in\n or near the IL6R (p = 1.8x10(-57)), CCL4L1 (p = 3.9x10(-21)), IL18 (p =\n 6.8x10(-13)), LPA (p = 4.4x10(-10)), GGT1 (p = 1.5x10(-7)), SHBG (p =\n 3.1x10(-7)), CRP (p = 6.4x10(-6)) and IL1RN (p = 7.3x10(-6)) genes, all\n associated with their respective protein products with effect sizes ranging\n from 0.19 to 0.69 standard deviations per allele. Mechanisms implicated\n include altered rates of cleavage of bound to unbound soluble receptor\n (IL6R), altered secretion rates of different sized proteins (LPA), variation\n in gene copy number (CCL4L1) and altered transcription (GGT1). We identified\n one novel trans effect that was an association between ABO blood group and\n tumour necrosis factor alpha (TNF-alpha) levels (p = 6.8x10(-40)), but this\n finding was not present when TNF-alpha was measured using a different assay ,\n or in a second study, suggesting an assay-specific association. Our results\n show that protein levels share some of the features of the genetics of gene\n expression. These include the presence of strong genetic effects in cis\n locations. The identification of protein quantitative trait loci (pQTLs) may\n be a powerful complementary method of improving our understanding of disease\n pathways.", "journal": {"name": "PLoS Genet", "impact_factor": 0.0}, "refcount": 151, "pubmed_id": "18464913", "published_on": "2008-05-09", "metadata": "{u'essn': u'1553-7404', u'pages': u'e1000072', u'locationlabel': u'', u'pubdate': u'2008 May 9', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5', u'booktitle': u'', u'epubdate': u'2008 May 9', u'sorttitle': u'genome wide association study identifies protein quantitative trait loci pqtls', u'lastauthor': u'Ferrucci L', u'title': u'A genome-wide association study identifies protein quantitative trait loci (pQTLs).', u'fulljournalname': u'PLoS genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Melzer D', u'sortpubdate': u'2008/05/09 00:00', u'uid': u'18464913', u'pmcrefcount': 151, u'pubstatus': u'3', u'history': [{u'pubstatus': u'received', u'date': u'2007/09/28 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/04/11 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/05/10 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/06/20 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/05/10 09:00'}], u'issn': u'1553-7390', u'nlmuniqueid': u'101239074', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1371/journal.pgen.1000072', u'authors': [{u'name': u'Melzer D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Perry JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hernandez D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Corsi AM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stevens K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rafferty I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lauretani F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Murray A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gibbs JR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Paolisso G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rafiq S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Simon-Sanchez J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lango H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Scholz S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Weedon MN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Arepalli S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rice N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Washecka N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hurst A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Britton A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Henley W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'van de Leemput J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Li R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Newman AB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tranah G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Harris T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Panicker V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dayan C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bennett A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McCarthy MI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ruokonen A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jarvelin MR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Guralnik J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bandinelli S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Frayling TM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Singleton A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ferrucci L', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'PLoS Genet', u'chapter': u'', u'articleids': [{u'value': u'18464913', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'10.1371/journal.pgen.1000072', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2362067', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'18464913', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18464913', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2362067;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'4'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "4129267"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "4796217"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "7770628"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "2250417"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "505922"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "6761276"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "10874639"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "4950322"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "11683229"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "11695685"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "7577642"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "10191411"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "9834373"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "169082"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "9461688"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "6455128"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "4541776"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "9402515"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "1285407"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "6472866"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "10092658"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "2081670"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "4742971"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "7076247"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "1779876"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "2237878"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "3885683"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "1939992"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "17415853"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "1880887"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "11065611"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "10466868"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "17369571"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "4770433"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "16957063"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "4889294"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "3848445"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "9303029"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "9635963"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "2729409"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "8109578"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "5751901"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "12093699"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "2900976"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "6930337"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "7112513"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "11637235"}, {"body_part": "", "fun": false, "description": "Protein quantitative trait loci", "rsid": "6761"}], "chrom": "1", "pos": 154426264, "personal": false}, {"title": "Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.", "authors": "Maris JM", "abstract": "Neuroblastoma is a malignant condition of the\n developing sympathetic nervous system that most commonly affects young\n children and is often lethal. Its cause is not known. METHODS: We performed a\n genomewide association study by first genotyping blood DNA samples from 1032\n patients with neuroblastoma and 2043 control subjects of European descent\n using the Illumina HumanHap550 BeadChip. Samples from three independent\n groups of patients with neuroblastoma (a total of 720 patients) and 2128\n control subjects were then genotyped to replicate significant associations.\n RESULTS: We observed a significant association between neuroblastoma and the\n common minor alleles of three consecutive single-nucleotide polymorphisms\n (SNPs) at chromosome band 6p22 and containing the predicted genes FLJ22536\n and FLJ44180 (P=1.71x10(-9) to 7.01x10(-10); allelic odds ratio, 1.39 to\n 1.40). Homozygosity for the at-risk G allele of the most significantly\n associated SNP, rs6939340, resulted in an increased likelihood of the\n development of neuroblastoma (odds ratio, 1.97; 95% confidence interval, 1.58\n to 2.45). Subsequent genotyping of the three 6p22 SNPs in three independent\n case series confirmed our observation of an association (P=9.33x10(-15) at\n rs6939340 for joint analysis). Patients with neuroblastoma who were\n homozygous for the risk alleles at 6p22 were more likely to have metastatic\n (stage 4) disease (P=0.02), amplification of the MYCN oncogene in the tumor\n cells (P=0.006), and disease relapse (P=0.01). CONCLUSIONS: A common genetic\n variation at chromosome band 6p22 is associated with susceptibility to\n neuroblastoma.", "journal": {"name": "N Engl J Med", "impact_factor": 0.0}, "refcount": 82, "pubmed_id": "18463370", "published_on": "2008-05-09", "metadata": "{u'essn': u'1533-4406', u'pages': u'2585-93', u'locationlabel': u'', u'pubdate': u'2008 Jun 12', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'24', u'booktitle': u'', u'epubdate': u'2008 May 7', u'sorttitle': u'chromosome 6p22 locus associated with clinically aggressive neuroblastoma', u'lastauthor': u'Hakonarson H', u'title': u'Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.', u'fulljournalname': u'The New England journal of medicine', u'publisherlocation': u'', u'sortfirstauthor': u'Maris JM', u'sortpubdate': u'2008/06/12 00:00', u'uid': u'18463370', u'pmcrefcount': 82, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2008/05/09 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/07/01 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/05/09 09:00'}], u'issn': u'0028-4793', u'nlmuniqueid': u'0255562', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18463371, u'refsource': u'N Engl J Med. 2008 Jun 12;358(24):2635-7', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1056/NEJMoa0708698', u'authors': [{u'name': u'Maris JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mosse YP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bradfield JP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hou C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Monni S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Scott RH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Asgharzadeh S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Attiyeh EF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Diskin SJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Laudenslager M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Winter C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cole KA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Glessner JT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kim C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Frackelton EC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Casalunovo T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Eckert AW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Capasso M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rappaport EF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'McConville C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'London WB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Seeger RC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rahman N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Devoto M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Grant SF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Li H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hakonarson H', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'N Engl J Med', u'chapter': u'', u'articleids': [{u'value': u'18463370', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'NEJMoa0708698', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1056/NEJMoa0708698', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2742373', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS50316', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18463370', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18463370', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2742373;manuscript-id: NIHMS50316;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'358'}", "phenotypes": [{"body_part": "brain", "fun": false, "description": "Neuroblastoma", "rsid": "6939340"}], "chrom": "6", "pos": 22140004, "personal": true}, {"title": "A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.", "authors": "Han J", "abstract": "We conducted a multi-stage genome-wide association study of\n natural hair color in more than 10,000 men and women of European ancestry\n from the United States and Australia. An initial analysis of 528,173 single\n nucleotide polymorphisms (SNPs) genotyped on 2,287 women identified IRF4 and\n SLC24A4 as loci highly associated with hair color, along with three other\n regions encompassing known pigmentation genes. We confirmed these\n associations in 7,028 individuals from three additional studies. Across these\n four studies, SLC24A4 rs12896399 and IRF4 rs12203592 showed strong\n associations with hair color, with p = 6.0x10(-62) and p = 7.46x10(-127),\n respectively. The IRF4 SNP was also associated with skin color (p =\n 6.2x10(-14)), eye color (p = 6.1x10(-13)), and skin tanning response to\n sunlight (p = 3.9x10(-89)). A multivariable analysis pooling data from the\n initial GWAS and an additional 1,440 individuals suggested that the\n association between rs12203592 and hair color was independent of rs1540771, a\n SNP between the IRF4 and EXOC2 genes previously found to be associated with\n hair color. After adjustment for rs12203592, the association between\n rs1540771 and hair color was not significant (p = 0.52). One variant in the\n MATP gene was associated with hair color. A variant in the HERC2 gene\n upstream of the OCA2 gene showed the strongest and independent association\n with hair color compared with other SNPs in this region, including three\n previously reported SNPs. The signals detected in a region around the MC1R\n gene were explained by MC1R red hair color alleles. Our results suggest that\n the IRF4 and SLC24A4 loci are associated with human hair color and skin\n pigmentation.", "journal": {"name": "PLoS Genet", "impact_factor": 0.0}, "refcount": 127, "pubmed_id": "18483556", "published_on": "2008-05-16", "metadata": "{u'essn': u'1553-7404', u'pages': u'e1000074', u'locationlabel': u'', u'pubdate': u'2008 May 16', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5', u'booktitle': u'', u'epubdate': u'2008 May 16', u'sorttitle': u'genome wide association study identifies novel alleles associated with hair color and skin pigmentation', u'lastauthor': u'Hunter DJ', u'title': u'A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.', u'fulljournalname': u'PLoS genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Han J', u'sortpubdate': u'2008/05/16 00:00', u'uid': u'18483556', u'pmcrefcount': 127, u'pubstatus': u'3', u'history': [{u'pubstatus': u'received', u'date': u'2007/12/24 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/04/14 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/05/17 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/06/11 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/05/17 09:00'}], u'issn': u'1553-7390', u'nlmuniqueid': u'101239074', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1371/journal.pgen.1000074', u'authors': [{u'name': u'Han J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kraft P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nan H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Guo Q', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chen C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Qureshi A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hankinson SE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hu FB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Duffy DL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zhao ZZ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Martin NG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Montgomery GW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hayward NK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thomas G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hoover RN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chanock S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hunter DJ', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'PLoS Genet', u'chapter': u'', u'articleids': [{u'value': u'18483556', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'10.1371/journal.pgen.1000074', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2367449', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'18483556', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18483556', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2367449;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'4'}", "phenotypes": [{"body_part": "face", "fun": true, "description": "Black vs. blond hair color", "rsid": "12203592"}, {"body_part": "face", "fun": true, "description": "Black vs. blond hair color", "rsid": "28777"}, {"body_part": "face", "fun": true, "description": "Black vs. blond hair color", "rsid": "6918152"}, {"body_part": "face", "fun": true, "description": "Black vs. blond hair color", "rsid": "12913832"}, {"body_part": "face", "fun": true, "description": "Black vs. red hair color", "rsid": "12203592"}, {"body_part": "face", "fun": true, "description": "Black vs. red hair color", "rsid": "28777"}, {"body_part": "face", "fun": true, "description": "Black vs. red hair color", "rsid": "6918152"}, {"body_part": "face", "fun": true, "description": "Black vs. red hair color", "rsid": "12913832"}, {"body_part": "face", "fun": true, "description": "Black vs. blond hair color", "rsid": "8033165"}, {"body_part": "face", "fun": true, "description": "Black vs. blond hair color", "rsid": "12896399"}, {"body_part": "face", "fun": true, "description": "Black vs. blond hair color", "rsid": "4778138"}, {"body_part": "face", "fun": true, "description": "Black vs. red hair color", "rsid": "8033165"}, {"body_part": "face", "fun": true, "description": "Black vs. red hair color", "rsid": "4778138"}, {"body_part": "face", "fun": true, "description": "Black vs. red hair color", "rsid": "258322"}], "chrom": "6", "pos": 396321, "personal": true}, {"title": "Common sequence variants on 20q11.22 confer melanoma susceptibility.", "authors": "Brown KM", "abstract": "We conducted a genome-wide association pooling study for\n cutaneous melanoma and performed validation in samples totaling 2,019 cases\n and 2,105 controls. Using pooling, we identified a new melanoma risk locus on\n chromosome 20 (rs910873 and rs1885120), with replication in two further\n samples (combined P < 1 x 10(-15)). The per allele odds ratio was 1.75 (1.53,\n 2.01), with evidence for stronger association in early-onset cases.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 85, "pubmed_id": "18488026", "published_on": "2008-05-18", "metadata": "{u'essn': u'1546-1718', u'pages': u'838-40', u'locationlabel': u'', u'pubdate': u'2008 Jul', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'7', u'booktitle': u'', u'epubdate': u'2008 May 18', u'sorttitle': u'common sequence variants on 20q11 22 confer melanoma susceptibility', u'lastauthor': u'Hayward NK', u'title': u'Common sequence variants on 20q11.22 confer melanoma susceptibility.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Brown KM', u'sortpubdate': u'2008/07/01 00:00', u'uid': u'18488026', u'pmcrefcount': 85, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2008/03/06 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/04/30 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/05/20 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/07/23 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/05/20 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18583973, u'refsource': u'Nat Genet. 2008 Jul;40(7):817-8', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.163', u'authors': [{u'name': u'Brown KM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Macgregor S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Montgomery GW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Craig DW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zhao ZZ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Iyadurai K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Henders AK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Homer N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Campbell MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stark M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thomas S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schmid H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Holland EA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gillanders EM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Duffy DL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Maskiell JA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jetann J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ferguson M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stephan DA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cust AE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Whiteman D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Green A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Olsson H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Puig S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ghiorzo P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hansson J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Demenais F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Goldstein AM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gruis NA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Elder DE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bishop JN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kefford RF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Giles GG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Armstrong BK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Aitken JF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hopper JL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Martin NG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Trent JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mann GJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hayward NK', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18488026', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.163', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.163', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2755512', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS130202', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18488026', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18488026', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2755512;manuscript-id: NIHMS130202;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "skin", "fun": false, "description": "Melanoma", "rsid": "910873"}], "chrom": "20", "pos": 33171772, "personal": false}, {"title": "Two newly identified genetic determinants of pigmentation in Europeans.", "authors": "Sulem P", "abstract": "We present results from a genome-wide association study for\n variants associated with human pigmentation characteristics among 5,130\n Icelanders, with follow-up analyses in 2,116 Icelanders and 1,214 Dutch\n individuals. Two coding variants in TPCN2 are associated with hair color, and\n a variant at the ASIP locus shows strong association with skin sensitivity to\n sun, freckling and red hair, phenotypic characteristics similar to those\n affected by well-known mutations in MC1R.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 93, "pubmed_id": "18488028", "published_on": "2008-05-18", "metadata": "{u'essn': u'1546-1718', u'pages': u'835-7', u'locationlabel': u'', u'pubdate': u'2008 Jul', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'7', u'booktitle': u'', u'epubdate': u'2008 May 18', u'sorttitle': u'two newly identified genetic determinants of pigmentation in europeans', u'lastauthor': u'Stefansson K', u'title': u'Two newly identified genetic determinants of pigmentation in Europeans.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Sulem P', u'sortpubdate': u'2008/07/01 00:00', u'uid': u'18488028', u'pmcrefcount': 93, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2008/03/12 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/04/23 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/05/20 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/07/23 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/05/20 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18583973, u'refsource': u'Nat Genet. 2008 Jul;40(7):817-8', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.160', u'authors': [{u'name': u'Sulem P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudbjartsson DF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stacey SN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Helgason A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rafnar T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jakobsdottir M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Steinberg S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gudjonsson SA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Palsson A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorleifsson G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'P\\xe1lsson S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sigurgeirsson B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorisdottir K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ragnarsson R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Benediktsdottir KR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Aben KK', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vermeulen SH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Goldstein AM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tucker MA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kiemeney LA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Olafsson JH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gulcher J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kong A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Thorsteinsdottir U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stefansson K', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18488028', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.160', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.160', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18488028', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18488028', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "face", "fun": true, "description": "Red vs. non-red hair color", "rsid": ""}, {"body_part": "face", "fun": true, "description": "Blond vs. brown hair color", "rsid": "35264875"}, {"body_part": "face", "fun": true, "description": "Blue vs. green eyes", "rsid": "1408799"}, {"body_part": "skin", "fun": true, "description": "Burning and freckling", "rsid": ""}, {"body_part": "skin", "fun": true, "description": "Skin sensitivity to sun", "rsid": ""}, {"body_part": "skin", "fun": true, "description": "Freckles", "rsid": ""}], "chrom": "9", "pos": 12672097, "personal": false}, {"title": "Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.", "authors": "Arnaud-Lopez L", "abstract": "Thyroid-stimulating hormone (TSH) controls thyroid growth and\n hormone secretion through binding to its G protein-coupled receptor (TSHR)\n and production of cyclic AMP (cAMP). Serum TSH is a sensitive indicator of\n thyroid function, and overt abnormalities in thyroid function lead to common\n endocrine disorders affecting approximately 10% of individuals over a life\n span. By genotyping 362,129 SNPs in 4,300 Sardinians, we identified a strong\n association (p = 1.3 x 10(-11)) between alleles of rs4704397 and circulating\n TSH levels; each additional copy of the minor A allele was associated with an\n increase of 0.13 muIU/ml in TSH. The single-nucleotide polymorphism (SNP) is\n located in intron 1 of PDE8B, encoding a high-affinity cAMP-specific\n phosphodiesterase. The association was replicated in 4,158 individuals,\n including additional Sardinians and two genetically distant cohorts from\n Tuscany and the Old Order Amish (overall p value = 1.9 x 10(-20)). In\n addition to association of TSH levels with SNPs in PDE8B, our genome scan\n provided evidence for association with PDE10A and several biologically\n interesting candidates in a focused analysis of 24 genes. In particular, we\n found evidence for association of TSH levels with SNPs in the THRB\n (rs1505287, p = 7.3 x 10(-5)), GNAQ (rs10512065, p = 2.0 x 10(-4)), TG\n (rs2252696, p = 2.2 x 10(-3)), POU1F1 (rs1976324, p = 3.9 x 10(-3)), PDE4D\n (rs27178, p = 8.3 x 10(-3)), and TSHR (rs4903957, p = 8.6 x 10(-3)) loci.\n Overall, the results suggest a primary effect of PDE8B variants on cAMP\n levels in the thyroid. This would affect production of T4 and T3 and feedback\n to alter TSH release by the pituitary. PDE8B may thus provide a candidate\n target for the treatment of thyroid dysfunction.", "journal": {"name": "Am J Hum Genet", "impact_factor": 0.0}, "refcount": 44, "pubmed_id": "18514160", "published_on": "2008-06-01", "metadata": "{u'essn': u'1537-6605', u'pages': u'1270-80', u'locationlabel': u'', u'pubdate': u'2008 Jun', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'6', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'phosphodiesterase 8b gene variants are associated with serum tsh levels and thyroid function', u'lastauthor': u'Naitza S', u'title': u'Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.', u'fulljournalname': u'American journal of human genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Arnaud-Lopez L', u'sortpubdate': u'2008/06/01 00:00', u'uid': u'18514160', u'pmcrefcount': 44, u'pubstatus': u'4', u'history': [{u'pubstatus': u'received', u'date': u'2008/03/03 00:00'}, {u'pubstatus': u'revised', u'date': u'2008/04/21 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/04/30 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/06/03 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/06/28 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/06/03 09:00'}], u'issn': u'0002-9297', u'nlmuniqueid': u'0370475', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1016/j.ajhg.2008.04.019', u'authors': [{u'name': u'Arnaud-Lopez L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Usala G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ceresini G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mitchell BD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pilia MG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Piras MG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sestu N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Maschio A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Busonero F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Albai G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dei M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lai S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mulas A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Crisponi L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tanaka T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bandinelli S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Guralnik JM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Loi A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Balaci L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sole G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Prinzis A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mariotti S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Shuldiner AR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cao A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schlessinger D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Uda M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Abecasis GR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nagaraja R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sanna S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Naitza S', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Am J Hum Genet', u'chapter': u'', u'articleids': [{u'value': u'18514160', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'S0002-9297(08)00307-8', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1016/j.ajhg.2008.04.019', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2427267', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'18514160', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18514160', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2427267;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'82'}", "phenotypes": [{"body_part": "thyroid", "fun": false, "description": "Thyroid stimulating hormone", "rsid": "4704397"}], "chrom": "5", "pos": 76518442, "personal": false}, {"title": "Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia.", "authors": "Volpi S", "abstract": "Administration of certain drugs (for example, antiarrhythmics,\n antihistamines, antibiotics, antipsychotics) may occasionally affect\n myocardial repolarization and cause prolongation of the QT interval. We\n performed a whole genome association study of drug-induced QT prolongation\n after 14 days of treatment in a phase 3 clinical trial evaluating the\n efficacy, safety and tolerability of a novel atypical antipsychotic,\n iloperidone, in patients with schizophrenia. We identified DNA polymorphisms\n associated with QT prolongation in six loci, including the CERKL and SLCO3A1\n genes. Each single nucleotide polymorphism (SNP) defined two genotype groups\n associated with a low mean QT change (ranging from -0.69 to 5.67 ms depending\n on the SNP) or a higher mean QT prolongation (ranging from 14.16 to 17.81\n ms). The CERKL protein is thought to be part of the ceramide pathway, which\n regulates currents conducted by various potassium channels, including the\n hERG channel. It is well established that inhibition of the hERG channel can\n prolong the QT interval. SLCO3A1 is thought to play a role in the\n translocation of prostaglandins, which have known cardioprotective\n properties, including the prevention of torsades de pointes. Our findings\n also point to genes involved in myocardial infarction (PALLD), cardiac\n structure and function (BRUNOL4) and cardiac development (NRG3). Results of\n this pharmacogenomic study provide new insight into the clinical response to\n iloperidone, developed with the goal of directing therapy to those patients\n with the optimal benefit/risk ratio.", "journal": {"name": "Mol Psychiatry", "impact_factor": 0.0}, "refcount": 26, "pubmed_id": "18521091", "published_on": "2008-06-03", "metadata": "{u'essn': u'1476-5578', u'pages': u'1024-31', u'locationlabel': u'', u'pubdate': u'2009 Nov', u'medium': u'', u'pubtype': [u'Journal Article', u'Multicenter Study'], u'availablefromurl': u'', u'issue': u'11', u'booktitle': u'', u'epubdate': u'2008 Jun 3', u'sorttitle': u'whole genome association study identifies polymorphisms associated with qt prolongation during iloperidone treatment of schizophrenia', u'lastauthor': u'Lavedan C', u'title': u'Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia.', u'fulljournalname': u'Molecular psychiatry', u'publisherlocation': u'', u'sortfirstauthor': u'Volpi S', u'sortpubdate': u'2009/11/01 00:00', u'uid': u'18521091', u'pmcrefcount': 26, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2008/06/04 09:00'}, {u'pubstatus': u'medline', u'date': u'2010/01/26 06:00'}, {u'pubstatus': u'entrez', u'date': u'2008/06/04 09:00'}], u'issn': u'1359-4184', u'nlmuniqueid': u'9607835', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/mp.2008.52', u'authors': [{u'name': u'Volpi S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heaton C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mack K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hamilton JB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lannan R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wolfgang CD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Licamele L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Polymeropoulos MH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lavedan C', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Mol Psychiatry', u'chapter': u'', u'articleids': [{u'value': u'18521091', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'mp200852', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/mp.2008.52', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18521091', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18521091', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'14'}", "phenotypes": [{"body_part": "drug", "fun": false, "description": "Response to iloperidone treatment (QT prolongation)", "rsid": "7142881"}, {"body_part": "drug", "fun": false, "description": "Response to iloperidone treatment (QT prolongation)", "rsid": "4799915"}, {"body_part": "drug", "fun": false, "description": "Response to iloperidone treatment (QT prolongation)", "rsid": "4933824"}, {"body_part": "drug", "fun": false, "description": "Response to iloperidone treatment (QT prolongation)", "rsid": "17054392"}, {"body_part": "drug", "fun": false, "description": "Response to iloperidone treatment (QT prolongation)", "rsid": "993648"}, {"body_part": "drug", "fun": false, "description": "Response to iloperidone treatment (QT prolongation)", "rsid": "3924426"}], "chrom": "14", "pos": 32093548, "personal": false}, {"title": "Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.", "authors": "Chen WM", "abstract": "Identifying the genetic variants that regulate fasting glucose\n concentrations may further our understanding of the pathogenesis of diabetes.\n We therefore investigated the association of fasting glucose levels with SNPs\n in 2 genome-wide scans including a total of 5,088 nondiabetic individuals\n from Finland and Sardinia. We found a significant association between the SNP\n rs563694 and fasting glucose concentrations (P = 3.5 x 10(-7)). This\n association was further investigated in an additional 18,436 nondiabetic\n individuals of mixed European descent from 7 different studies. The combined\n P value for association in these follow-up samples was 6.9 x 10(-26), and\n combining results from all studies resulted in an overall P value for\n association of 6.4 x 10(-33). Across these studies, fasting glucose\n concentrations increased 0.01-0.16 mM with each copy of the major allele,\n accounting for approximately 1% of the total variation in fasting glucose.\n The rs563694 SNP is located between the genes glucose-6-phosphatase catalytic\n subunit 2 (G6PC2) and ATP-binding cassette, subfamily B (MDR/TAP), member 11\n (ABCB11). Our results in combination with data reported in the literature\n suggest that G6PC2, a glucose-6-phosphatase almost exclusively expressed in\n pancreatic islet cells, may underlie variation in fasting glucose, though it\n is possible that ABCB11, which is expressed primarily in liver, may also\n contribute to such variation.", "journal": {"name": "J Clin Invest", "impact_factor": 0.0}, "refcount": 73, "pubmed_id": "18521185", "published_on": "2008-06-04", "metadata": "{u'essn': u'1558-8238', u'pages': u'2620-8', u'locationlabel': u'', u'pubdate': u'2008 Jul', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'7', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'variations in the g6pc2 abcb11 genomic region are associated with fasting glucose levels', u'lastauthor': u'Watanabe RM', u'title': u'Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.', u'fulljournalname': u'The Journal of clinical investigation', u'publisherlocation': u'', u'sortfirstauthor': u'Chen WM', u'sortpubdate': u'2008/07/01 00:00', u'uid': u'18521185', u'pmcrefcount': 73, u'pubstatus': u'4', u'history': [{u'pubstatus': u'received', u'date': u'2007/11/26 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/04/23 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/06/04 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/09/26 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/06/04 09:00'}], u'issn': u'0021-9738', u'nlmuniqueid': u'7802877', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1172/JCI34566', u'authors': [{u'name': u'Chen WM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Erdos MR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jackson AU', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Saxena R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sanna S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Silver KD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Timpson NJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hansen T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Orr\\xf9 M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Grazia Piras M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bonnycastle LL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Willer CJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lyssenko V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Shen H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kuusisto J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ebrahim S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sestu N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Duren WL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Spada MC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stringham HM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Scott LJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Olla N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Swift AJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Najjar S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mitchell BD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lawlor DA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Smith GD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ben-Shlomo Y', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Andersen G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Borch-Johnsen K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'J\\xf8rgensen T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Saramies J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Valle TT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Buchanan TA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Shuldiner AR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lakatta E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bergman RN', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Uda M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tuomilehto J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Pedersen O', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cao A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Groop L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mohlke KL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Laakso M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schlessinger D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Collins FS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Altshuler D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Abecasis GR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Boehnke M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Scuteri A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Watanabe RM', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'J Clin Invest', u'chapter': u'', u'articleids': [{u'value': u'18521185', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'10.1172/JCI34566', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2398737', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'18521185', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18521185', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2398737;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'118'}", "phenotypes": [{"body_part": "heart", "fun": false, "description": "Fasting plasma glucose", "rsid": "563694"}], "chrom": "2", "pos": 169774071, "personal": false}, {"title": "A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.", "authors": "Cooper GM", "abstract": "Warfarin dosing is correlated with polymorphisms in vitamin K\n epoxide reductase complex 1 (VKORC1) and the cytochrome P450 2C9 (CYP2C9)\n genes. Recently, the FDA revised warfarin labeling to raise physician\n awareness about these genetic effects. Randomized clinical trials are\n underway to test genetically based dosing algorithms. It is thus important to\n determine whether common single nucleotide polymorphisms (SNPs) in other\n gene(s) have a large effect on warfarin dosing. A retrospective genome-wide\n association study was designed to identify polymorphisms that could explain a\n large fraction of the dose variance. White patients from an index warfarin\n population (n = 181) and 2 independent replication patient populations (n =\n 374) were studied. From the approximately 550 000 polymorphisms tested, the\n most significant independent effect was associated with VKORC1 polymorphisms\n (P = 6.2 x 10(-13)) in the index patients. CYP2C9 (rs1057910 CYP2C9*3) and\n rs4917639) was associated with dose at moderate significance levels (P\n approximately 10(-4)). Replication polymorphisms (355 SNPs) from the index\n study did not show any significant effects in the replication patient sets.\n We conclude that common SNPs with large effects on warfarin dose are unlikely\n to be discovered outside of the CYP2C9 and VKORC1 genes. Randomized clinical\n trials that account for these 2 genes should therefore produce results that\n are definitive and broadly applicable.", "journal": {"name": "Blood", "impact_factor": 0.0}, "refcount": 132, "pubmed_id": "18535201", "published_on": "2008-06-05", "metadata": "{u'essn': u'1528-0020', u'pages': u'1022-7', u'locationlabel': u'', u'pubdate': u'2008 Aug 15', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'4', u'booktitle': u'', u'epubdate': u'2008 Jun 5', u'sorttitle': u'genome wide scan for common genetic variants with a large influence on warfarin maintenance dose', u'lastauthor': u'Rieder MJ', u'title': u'A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.', u'fulljournalname': u'Blood', u'publisherlocation': u'', u'sortfirstauthor': u'Cooper GM', u'sortpubdate': u'2008/08/15 00:00', u'uid': u'18535201', u'pmcrefcount': 132, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2008/06/07 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/09/17 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/06/07 09:00'}], u'issn': u'0006-4971', u'nlmuniqueid': u'7603509', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1182/blood-2008-01-134247', u'authors': [{u'name': u'Cooper GM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Johnson JA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Langaee TY', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Feng H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stanaway IB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schwarz UI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ritchie MD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stein CM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Roden DM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Smith JD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Veenstra DL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rettie AE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rieder MJ', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Blood', u'chapter': u'', u'articleids': [{u'value': u'18535201', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'blood-2008-01-134247', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1182/blood-2008-01-134247', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2515139', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'18535201', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18535201', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2515139;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'112'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Warfarin maintenance dose", "rsid": "216013"}, {"body_part": "", "fun": false, "description": "Warfarin maintenance dose", "rsid": "10871454"}, {"body_part": "", "fun": false, "description": "Warfarin maintenance dose", "rsid": "4086116"}], "chrom": "12", "pos": 2729632, "personal": false}, {"title": "A polymorphism within the G6PC2 gene is associated with fasting plasma glucose levels.", "authors": "Bouatia-Naji N", "abstract": "Several studies have shown that healthy individuals with fasting\n plasma glucose (FPG) levels at the high end of the normal range have an\n increased risk of mortality. To identify genetic determinants that contribute\n to interindividual variation in FPG, we tested 392,935 single-nucleotide\n polymorphisms (SNPs) in 654 normoglycemic participants for association with\n FPG, and we replicated the most strongly associated SNP (rs560887, P = 4 x\n 10(-7)) in 9353 participants. SNP rs560887 maps to intron 3 of the G6PC2\n gene, which encodes glucose-6-phosphatase catalytic subunit-related protein\n (also known as IGRP), a protein selectively expressed in pancreatic islets.\n This SNP was associated with FPG (linear regression coefficient beta = -0.06\n millimoles per liter per A allele, combined P = 4 x 10(-23)) and with\n pancreatic beta cell function (Homa-B model, combined P = 3 x 10(-13)) in\n three populations; however, it was not associated with type 2 diabetes risk.\n We speculate that G6PC2 regulates FPG by modulating the set point for\n glucose-stimulated insulin secretion in pancreatic beta cells.", "journal": {"name": "Science", "impact_factor": 37.205}, "refcount": 98, "pubmed_id": "18451265", "published_on": "2008-06-19", "metadata": "{u'essn': u'1095-9203', u'pages': u'1085-8', u'locationlabel': u'', u'pubdate': u'2008 May 23', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'5879', u'booktitle': u'', u'epubdate': u'2008 May 1', u'sorttitle': u'polymorphism within the g6pc2 gene is associated with fasting plasma glucose levels', u'lastauthor': u'Froguel P', u'title': u'A polymorphism within the G6PC2 gene is associated with fasting plasma glucose levels.', u'fulljournalname': u'Science (New York, N.Y.)', u'publisherlocation': u'', u'sortfirstauthor': u'Bouatia-Naji N', u'sortpubdate': u'2008/05/23 00:00', u'uid': u'18451265', u'pmcrefcount': 98, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2008/05/03 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/06/03 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/05/03 09:00'}], u'issn': u'0036-8075', u'nlmuniqueid': u'0404511', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1126/science.1156849', u'authors': [{u'name': u'Bouatia-Naji N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rocheleau G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Van Lommel L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lemaire K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schuit F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cavalcanti-Proen\\xe7a C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Marchand M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hartikainen AL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sovio U', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'De Graeve F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rung J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vaxillaire M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tichet J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Marre M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Balkau B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Weill J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Elliott P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jarvelin MR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Meyre D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Polychronakos C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dina C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sladek R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Froguel P', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Science', u'chapter': u'', u'articleids': [{u'value': u'18451265', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'1156849', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1126/science.1156849', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18451265', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18451265', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'320'}", "phenotypes": [{"body_part": "heart", "fun": false, "description": "Fasting plasma glucose", "rsid": "560887"}], "chrom": "2", "pos": 169763148, "personal": false}, {"title": "Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis.", "authors": "Behrens EM", "abstract": "", "journal": {"name": "Arthritis Rheum", "impact_factor": 0.0}, "refcount": 14, "pubmed_id": "18576341", "published_on": "2008-06-24", "metadata": "{u'essn': u'1529-0131', u'pages': u'2206-7', u'locationlabel': u'', u'pubdate': u'2008 Jul', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'7', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'association of the traf1 c5 locus on chromosome 9 with juvenile idiopathic arthritis', u'lastauthor': u'Hakonarson H', u'title': u'Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis.', u'fulljournalname': u'Arthritis and rheumatism', u'publisherlocation': u'', u'sortfirstauthor': u'Behrens EM', u'sortpubdate': u'2008/07/01 00:00', u'uid': u'18576341', u'pmcrefcount': 14, u'pubstatus': u'4', u'history': [{u'pubstatus': u'pubmed', u'date': u'2008/06/26 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/08/09 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/06/26 09:00'}], u'issn': u'0004-3591', u'nlmuniqueid': u'0370605', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1002/art.23603', u'authors': [{u'name': u'Behrens EM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Finkel TH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bradfield JP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kim CE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Linton L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Casalunovo T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Frackelton EC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Santa E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Otieno FG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Glessner JT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chiavacci RM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Grant SF', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hakonarson H', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [], u'source': u'Arthritis Rheum', u'chapter': u'', u'articleids': [{u'value': u'18576341', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'10.1002/art.23603', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18576341', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18576341', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'58'}", "phenotypes": [{"body_part": "bone", "fun": false, "description": "Arthritis (juvenile idiopathic)", "rsid": "2395148"}], "chrom": "6", "pos": 32321554, "personal": false}, {"title": "Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.", "authors": "Barrett JC", "abstract": "Several risk factors for Crohn's disease have been identified in\n recent genome-wide association studies. To advance gene discovery further, we\n combined data from three studies on Crohn's disease (a total of 3,230 cases\n and 4,829 controls) and carried out replication in 3,664 independent cases\n with a mixture of population-based and family-based controls. The results\n strongly confirm 11 previously reported loci and provide genome-wide\n significant evidence for 21 additional loci, including the regions containing\n STAT3, JAK2, ICOSLG, CDKAL1 and ITLN1. The expanded molecular understanding\n of the basis of this disease offers promise for informed therapeutic\n development.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 794, "pubmed_id": "18587394", "published_on": "2008-06-29", "metadata": "{u'essn': u'1546-1718', u'pages': u'955-62', u'locationlabel': u'', u'pubdate': u'2008 Aug', u'medium': u'', u'pubtype': [u'Journal Article', u'Meta-Analysis'], u'availablefromurl': u'', u'issue': u'8', u'booktitle': u'', u'epubdate': u'2008 Jun 29', u'sorttitle': u'genome wide association defines more than 30 distinct susceptibility loci for crohn s disease', u'lastauthor': u'Daly MJ', u'title': u\"Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.\", u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Barrett JC', u'sortpubdate': u'2008/08/01 00:00', u'uid': u'18587394', u'pmcrefcount': 794, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2008/02/01 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/05/02 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/07/01 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/09/03 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/07/01 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 19422783, u'refsource': u'Gastroenterology. 2009 Jun;136(7):2402-3', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': 19235911, u'refsource': u'Inflamm Bowel Dis. 2009 Sep;15(9):1436-7', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.175', u'authors': [{u'name': u'Barrett JC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hansoul S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nicolae DL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Cho JH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Duerr RH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rioux JD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Brant SR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Silverberg MS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Taylor KD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Barmada MM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bitton A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dassopoulos T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Datta LW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Green T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Griffiths AM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kistner EO', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Murtha MT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Regueiro MD', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rotter JI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schumm LP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Steinhart AH', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Targan SR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Xavier RJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'NIDDK IBD Genetics Consortium.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Libioulle C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sandor C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lathrop M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Belaiche J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dewit O', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gut I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heath S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Laukens D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mni M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rutgeerts P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Van Gossum A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zelenika D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Franchimont D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hugot JP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'de Vos M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vermeire S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Louis E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Belgian-French IBD Consortium.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Wellcome Trust Case Control Consortium.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Cardon LR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Anderson CA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Drummond H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nimmo E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ahmad T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Prescott NJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Onnie CM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fisher SA', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Marchini J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ghori J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bumpstead S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gwilliam R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Tremelling M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Deloukas P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mansfield J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Jewell D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Satsangi J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mathew CG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Parkes M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Georges M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Daly MJ', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18587394', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.175', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.175', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2574810', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS53734', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18587394', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18587394', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2574810;manuscript-id: NIHMS53734;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "2066847"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "3764147"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "2301436"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "744166"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "7746082"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "2476601"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "2274910"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "9286879"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "11584383"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "1456893"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "1551398"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "10758669"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "17582416"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "7927894"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "11175593"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "2872507"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "1736135"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "11465804"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "3828309"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "3197999"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "4613763"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "2188962"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "11747270"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "4263839"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "2542151"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "10995271"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "10045431"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "6908425"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "762421"}, {"body_part": "gut", "fun": false, "description": "Crohn's disease", "rsid": "11190140"}], "chrom": "13", "pos": 44457925, "personal": false}, {"title": "Genomic association analysis suggests chromosome 12 locus influencing antihypertensive response to thiazide diuretic.", "authors": "Turner ST", "abstract": "We conducted a genome-wide association study to identify novel\n genes influencing diastolic blood pressure (BP) response to\n hydrochlorothiazide, a commonly prescribed thiazide diuretic preferred for\n the treatment of high BP. Affymetrix GeneChip Human Mapping 100K Arrays were\n used to measure single nucleotide polymorphisms across the 22 autosomes in\n 194 non-Hispanic black subjects and 195 non-Hispanic white subjects with\n essential hypertension selected from opposite tertiles of the race- and\n sex-specific distributions of age-adjusted diastolic BP response to\n hydrochlorothiazide (25 mg daily, PO, for 4 weeks). The black sample\n consisted of 97 ", "journal": {"name": "Hypertension", "impact_factor": 0.0}, "refcount": 39, "pubmed_id": "18591461", "published_on": "2008-06-30", "metadata": "{u'essn': u'1524-4563', u'pages': u'359-65', u'locationlabel': u'', u'pubdate': u'2008 Aug', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'2', u'booktitle': u'', u'epubdate': u'2008 Jun 30', u'sorttitle': u'genomic association analysis suggests chromosome 12 locus influencing antihypertensive response to thiazide diuretic', u'lastauthor': u'Boerwinkle E', u'title': u'Genomic association analysis suggests chromosome 12 locus influencing antihypertensive response to thiazide diuretic.', u'fulljournalname': u'Hypertension (Dallas, Tex. : 1979)', u'publisherlocation': u'', u'sortfirstauthor': u'Turner ST', u'sortpubdate': u'2008/08/01 00:00', u'uid': u'18591461', u'pmcrefcount': 39, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2008/07/02 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/08/23 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/07/02 09:00'}], u'issn': u'0194-911X', u'nlmuniqueid': u'7906255', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1161/HYPERTENSIONAHA.107.104273', u'authors': [{u'name': u'Turner ST', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bailey KR', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fridley BL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chapman AB', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schwartz GL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chai HS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sicotte H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kocher JP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rodin AS', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Boerwinkle E', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Hypertension', u'chapter': u'', u'articleids': [{u'value': u'18591461', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'10.1161/HYPERTENSIONAHA.107.104273', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'HYPERTENSIONAHA.107.104273', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'PMC2692710', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'NIHMS98838', u'idtypen': 8, u'idtype': u'mid'}, {u'value': u'18591461', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18591461', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2692710;manuscript-id: NIHMS98838;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'52'}", "phenotypes": [{"body_part": "drug", "fun": false, "description": "Response to diuretic therapy", "rsid": ""}], "chrom": null, "pos": null, "personal": false}, {"title": "Bisphosphonate-related osteonecrosis of the jaw is associated with polymorphisms of the cytochrome P450 CYP2C8 in multiple myeloma: a genome-wide single nucleotide polymorphism analysis.", "authors": "Sarasquete ME", "abstract": "We have explored the potential role of genetics in the\n development of osteonecrosis of the jaw (ONJ) in multiple myeloma (MM)\n patients under bisphosphonate therapy. A genome-wide association study was\n performed using 500 568 single nucleotide polymorphisms (SNPs) in 2 series of\n homogeneously treated MM patients, one with ONJ (22 MM cases) and another\n without ONJ (65 matched MM controls). Four SNPs (rs1934951, rs1934980,\n rs1341162, and rs17110453) mapped within the cytochrome P450-2C gene (CYP2C8)\n showed a different distribution between cases and controls with statistically\n significant differences (P = 1.07 x 10(-6), P = 4.231 x 10(-6), P = 6.22 x\n 10(-6), and P = 2.15 x 10(-6), respectively). SNP rs1934951 was significantly\n associated with a higher risk of ONJ development even after Bonferroni\n correction (P corrected value = .02). Genotyping results displayed an\n overrepresentation of the T allele in cases compared with controls (48% vs\n 12%). Thus, individuals homozygous for the T allele had an increased\n likelihood of developing ONJ (odds ratio 12.75, 95% confidence interval\n 3.7-43.5).", "journal": {"name": "Blood", "impact_factor": 0.0}, "refcount": 28, "pubmed_id": "18594024", "published_on": "2008-07-01", "metadata": "{u'essn': u'1528-0020', u'pages': u'2709-12', u'locationlabel': u'', u'pubdate': u'2008 Oct 1', u'medium': u'', u'pubtype': [u'Clinical Trial', u'Journal Article'], u'availablefromurl': u'', u'issue': u'7', u'booktitle': u'', u'epubdate': u'2008 Jul 1', u'sorttitle': u'bisphosphonate related osteonecrosis of the jaw is associated with polymorphisms of the cytochrome p450 cyp2c8 in multiple myeloma a genome wide single nucleotide polymorphism analysis', u'lastauthor': u'San Miguel JF', u'title': u'Bisphosphonate-related osteonecrosis of the jaw is associated with polymorphisms of the cytochrome P450 CYP2C8 in multiple myeloma: a genome-wide single nucleotide polymorphism analysis.', u'fulljournalname': u'Blood', u'publisherlocation': u'', u'sortfirstauthor': u'Sarasquete ME', u'sortpubdate': u'2008/10/01 00:00', u'uid': u'18594024', u'pmcrefcount': 28, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2008/07/03 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/10/10 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/07/03 09:00'}], u'issn': u'0006-4971', u'nlmuniqueid': u'7603509', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 18809766, u'refsource': u'Blood. 2008 Oct 1;112(7):2596-7', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1182/blood-2008-04-147884', u'authors': [{u'name': u'Sarasquete ME', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Garc\\xeda-Sanz R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Mar\\xedn L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Alcoceba M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chill\\xf3n MC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Balanzategui A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Santamaria C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rosi\\xf1ol L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'de la Rubia J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hernandez MT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Garcia-Navarro I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lahuerta JJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gonz\\xe1lez M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'San Miguel JF', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Blood', u'chapter': u'', u'articleids': [{u'value': u'18594024', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'blood-2008-04-147884', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1182/blood-2008-04-147884', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18594024', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18594024', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'112'}", "phenotypes": [{"body_part": "bone", "fun": false, "description": "Osteonecrosis of the jaw", "rsid": "1934951"}], "chrom": "10", "pos": 96798548, "personal": true}, {"title": "Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women.", "authors": "Pare G", "abstract": "While circulating levels of soluble Intercellular Adhesion\n Molecule 1 (sICAM-1) have been associated with diverse conditions including\n myocardial infarction, stroke, malaria, and diabetes, comprehensive analysis\n of the common genetic determinants of sICAM-1 is not available. In a\n genome-wide association study conducted among 6,578 participants in the Women\n's Genome Health Study, we find that three SNPs at the ICAM1 (19p13.2) locus\n (rs1799969, rs5498 and rs281437) are non-redundantly associated with plasma\n sICAM-1 concentrations at a genome-wide significance level (P<5x10(-8)), thus\n extending prior results from linkage and candidate gene studies. We also find\n that a single SNP (rs507666, P = 5.1x10(-29)) at the ABO (9q34.2) locus is\n highly correlated with sICAM-1 concentrations. The novel association at the\n ABO locus provides evidence for a previously unknown regulatory role of\n histo-blood group antigens in inflammatory adhesion processes.", "journal": {"name": "PLoS Genet", "impact_factor": 0.0}, "refcount": 76, "pubmed_id": "18604267", "published_on": "2008-07-04", "metadata": "{u'essn': u'1553-7404', u'pages': u'e1000118', u'locationlabel': u'', u'pubdate': u'2008 Jul 4', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'7', u'booktitle': u'', u'epubdate': u'2008 Jul 4', u'sorttitle': u'novel association of abo histo blood group antigen with soluble icam 1 results of a genome wide association study of 6 578 women', u'lastauthor': u'Ridker PM', u'title': u'Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women.', u'fulljournalname': u'PLoS genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Par\\xe9 G', u'sortpubdate': u'2008/07/04 00:00', u'uid': u'18604267', u'pmcrefcount': 76, u'pubstatus': u'3', u'history': [{u'pubstatus': u'received', u'date': u'2008/03/28 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/06/04 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/07/08 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/10/10 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/07/08 09:00'}], u'issn': u'1553-7390', u'nlmuniqueid': u'101239074', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1371/journal.pgen.1000118', u'authors': [{u'name': u'Par\\xe9 G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Chasman DI', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kellogg M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zee RY', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rifai N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Badola S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Miletich JP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ridker PM', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'PLoS Genet', u'chapter': u'', u'articleids': [{u'value': u'18604267', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'10.1371/journal.pgen.1000118', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2432033', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'18604267', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18604267', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2432033;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'4'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Soluble ICAM-1", "rsid": "507666"}, {"body_part": "", "fun": false, "description": "Soluble ICAM-1", "rsid": "1799969"}, {"body_part": "", "fun": false, "description": "Soluble ICAM-1", "rsid": "281437"}, {"body_part": "", "fun": false, "description": "Soluble ICAM-1", "rsid": "5498"}], "chrom": null, "pos": null, "personal": false}, {"title": "Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.", "authors": "Liu C", "abstract": "The prediction of response (or non-response) to anti-TNF\n treatment for rheumatoid arthritis (RA) is a pressing clinical problem. We\n conducted a genome-wide association study using the Illumina HapMap300 SNP\n chip on 89 RA patients prospectively followed after beginning anti-TNF\n therapy as part of Autoimmune Biomarkers Collaborative Network (ABCoN\n [Autoimmune Bio-markers Collaborative Network]) patient cohort. Response to\n therapy was determined by the change in Disease Activity Score (DAS28)\n observed after 14 wks. We used a two-part analysis that treated the change in\n DAS28 as a continuous trait and then incorporated it into a dichotomous trait\n of ", "journal": {"name": "Mol Med", "impact_factor": 0.0}, "refcount": 56, "pubmed_id": "18615156", "published_on": "2008-07-10", "metadata": "{u'essn': u'1528-3658', u'pages': u'575-81', u'locationlabel': u'', u'pubdate': u'2008 Sep-Oct', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'9-10', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'genome wide association scan identifies candidate polymorphisms associated with differential response to anti tnf treatment in rheumatoid arthritis', u'lastauthor': u'Gregersen PK', u'title': u'Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.', u'fulljournalname': u'Molecular medicine (Cambridge, Mass.)', u'publisherlocation': u'', u'sortfirstauthor': u'Liu C', u'sortpubdate': u'2008/09/01 00:00', u'uid': u'18615156', u'pmcrefcount': 56, u'pubstatus': u'4', u'history': [{u'pubstatus': u'received', u'date': u'2008/05/02 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/07/01 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/07/11 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/11/11 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/07/11 09:00'}], u'issn': u'1076-1551', u'nlmuniqueid': u'9501023', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.2119/2008-00056.Liu', u'authors': [{u'name': u'Liu C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Batliwalla F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Li W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lee A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Roubenoff R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Beckman E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Khalili H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Damle A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kern M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Furie R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dupuis J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Plenge RM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Coenen MJ', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Behrens TW', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Carulli JP', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gregersen PK', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Mol Med', u'chapter': u'', u'articleids': [{u'value': u'18615156', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'10.2119/2008-00056.Liu', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'PMC2276142', u'idtypen': 8, u'idtype': u'pmc'}, {u'value': u'18615156', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18615156', u'idtypen': 8, u'idtype': u'eid'}, {u'value': u'pmc-id: PMC2276142;', u'idtypen': 5, u'idtype': u'pmcid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'14'}", "phenotypes": [{"body_part": "drug", "fun": false, "description": "Response to TNF antagonist treatment", "rsid": "6028945"}, {"body_part": "drug", "fun": false, "description": "Response to TNF antagonist treatment", "rsid": "10945919"}, {"body_part": "drug", "fun": false, "description": "Response to TNF antagonist treatment", "rsid": "7046653"}, {"body_part": "drug", "fun": false, "description": "Response to TNF antagonist treatment", "rsid": "13393173"}, {"body_part": "drug", "fun": false, "description": "Response to TNF antagonist treatment", "rsid": "6138150"}, {"body_part": "drug", "fun": false, "description": "Response to TNF antagonist treatment", "rsid": "854555"}, {"body_part": "drug", "fun": false, "description": "Response to TNF antagonist treatment", "rsid": "983332"}, {"body_part": "drug", "fun": false, "description": "Response to TNF antagonist treatment", "rsid": "437943"}], "chrom": "20", "pos": 38820805, "personal": false}, {"title": "Genome-wide association analysis in sarcoidosis and Crohn's disease unravels a common susceptibility locus on 10p12.2.", "authors": "Franke A", "abstract": "BACKGROUND & AIMS: Crohn's disease (CD) and sarcoidosis (SA) are\n chronic inflammatory barrier diseases that share several clinical and\n immunological features, including the occurrence of granulomas. METHODS: A\n 100k genome-wide association study with 83,360 single-nucleotide\n polymorphisms (SNPs) was performed on 382 CD patients, 398 SA patients, and\n 394 control individuals. The 24 SNPs that were most strongly associated in\n the combined CD/SA phenotype were selected for verification in an independent\n sample of 1,317 patients (660 CD and 657 SA) and 1,091 controls. RESULTS: The\n most significant association (Bonferroni corrected P = .036) was obtained at\n SNP rs1398024 on chromosome 10p12.2, with an odds ratio (OR) for both\n diseases of 0.81 (95% confidence interval [CI], 0.69-0.96) for carriership of\n the rarer allele A. The P value in the overall combined sample was 4.24 x\n 10(-6). During further follow-up, a moderate association (OR, 0.83; 95% CI,\n 0.72-0.96; P = .015) was observed between rs1398024 and ulcerative colitis\n (1,080 patients vs 1,091 controls), the second main subphenotype of\n inflammatory bowel disease in addition to CD. Extensive fine mapping of the\n 10p12.2 locus points to yet unidentified variants in the C10ORF67 gene region\n as the most likely underlying risk factors. CONCLUSION: Our study\n demonstrates that the combined analysis of different, albeit clinically\n related, phenotypes can lead to the identification of common susceptibility\n loci.", "journal": {"name": "Gastroenterology", "impact_factor": 0.0}, "refcount": 20, "pubmed_id": "18723019", "published_on": "2008-07-21", "metadata": "{u'essn': u'1528-0012', u'pages': u'1207-15', u'locationlabel': u'', u'pubdate': u'2008 Oct', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'4', u'booktitle': u'', u'epubdate': u'2008 Jul 18', u'sorttitle': u'genome wide association analysis in sarcoidosis and crohn s disease unravels a common susceptibility locus on 10p12 2', u'lastauthor': u'Schreiber S', u'title': u\"Genome-wide association analysis in sarcoidosis and Crohn's disease unravels a common susceptibility locus on 10p12.2.\", u'fulljournalname': u'Gastroenterology', u'publisherlocation': u'', u'sortfirstauthor': u'Franke A', u'sortpubdate': u'2008/10/01 00:00', u'uid': u'18723019', u'pmcrefcount': 20, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2008/03/09 00:00'}, {u'pubstatus': u'revised', u'date': u'2008/06/27 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/07/14 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/08/30 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/11/15 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/08/30 09:00'}], u'issn': u'0016-5085', u'nlmuniqueid': u'0374630', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1053/j.gastro.2008.07.017', u'authors': [{u'name': u'Franke A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Fischer A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nothnagel M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Becker C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Grabe N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Till A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lu T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'M\\xfcller-Quernheim J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wittig M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hermann A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Balschun T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hofmann S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Niemiec R', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schulz S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hampe J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nikolaus S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'N\\xfcrnberg P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Krawczak M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sch\\xfcrmann M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rosenstiel P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nebel A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Schreiber S', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Gastroenterology', u'chapter': u'', u'articleids': [{u'value': u'18723019', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'S0016-5085(08)01326-7', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1053/j.gastro.2008.07.017', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18723019', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18723019', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'135'}", "phenotypes": [{"body_part": "gut", "fun": false, "description": "Crohn's disease and sarcoidosis (combined)", "rsid": "1398024"}], "chrom": "10", "pos": 23665438, "personal": false}, {"title": "SLCO1B1 variants and statin-induced myopathy--a genomewide study.", "authors": "Link E", "abstract": "Lowering low-density lipoprotein cholesterol with\n statin therapy results in substantial reductions in cardiovascular events,\n and larger reductions in cholesterol may produce larger benefits. In rare\n cases, myopathy occurs in association with statin therapy, especially when\n the statins are administered at higher doses and with certain other\n medications. METHODS: We carried out a genomewide association study using\n approximately 300,000 markers (and additional fine-mapping) in 85 subjects\n with definite or incipient myopathy and 90 controls, all of whom were taking\n 80 mg of simvastatin daily as part of a trial involving 12,000 participants.\n Replication was tested in a trial of 40 mg of simvastatin daily involving\n 20,000 participants. RESULTS: The genomewide scan yielded a single strong\n association of myopathy with the rs4363657 single-nucleotide polymorphism\n (SNP) located within SLCO1B1 on chromosome 12 (P=4x10(-9)). SLCO1B1 encodes\n the organic anion-transporting polypeptide OATP1B1, which has been shown to\n regulate the hepatic uptake of statins. The noncoding rs4363657 SNP was in\n nearly complete linkage disequilibrium with the nonsynonymous rs4149056 SNP\n (r(2)=0.97), which has been linked to statin metabolism. The prevalence of\n the rs4149056 C allele in the population was 15%. The odds ratio for myopathy\n was 4.5 (95% confidence interval [CI], 2.6 to 7.7) per copy of the C allele,\n and 16.9 (95% CI, 4.7 to 61.1) in CC as compared with TT homozygotes. More\n than 60% of these myopathy cases could be attributed to the C variant. The\n association of rs4149056 with myopathy was replicated in the trial of 40 mg\n of simvastatin daily, which also showed an association between rs4149056 and\n the cholesterol-lowering effects of simvastatin. No SNPs in any other region\n were clearly associated with myopathy. CONCLUSIONS: We have identified common\n variants in SLCO1B1 that are strongly associated with an increased risk of\n statin-induced myopathy. Genotyping these variants may help to achieve the\n benefits of statin therapy more safely and effectively. (Current Controlled\n Trials number, ISRCTN74348595.)", "journal": {"name": "N Engl J Med", "impact_factor": 0.0}, "refcount": 358, "pubmed_id": "18650507", "published_on": "2008-07-23", "metadata": "{u'essn': u'1533-4406', u'pages': u'789-99', u'locationlabel': u'', u'pubdate': u'2008 Aug 21', u'medium': u'', u'pubtype': [u'Journal Article', u'Randomized Controlled Trial'], u'availablefromurl': u'', u'issue': u'8', u'booktitle': u'', u'epubdate': u'2008 Jul 23', u'sorttitle': u'slco1b1 variants and statin induced myopathy a genomewide study', u'lastauthor': u'Collins R', u'title': u'SLCO1B1 variants and statin-induced myopathy--a genomewide study.', u'fulljournalname': u'The New England journal of medicine', u'publisherlocation': u'', u'sortfirstauthor': u'Link E', u'sortpubdate': u'2008/08/21 00:00', u'uid': u'18650507', u'pmcrefcount': 358, u'pubstatus': u'256', u'history': [{u'pubstatus': u'pubmed', u'date': u'2008/07/25 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/08/30 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/07/25 09:00'}], u'issn': u'0028-4793', u'nlmuniqueid': u'0255562', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 19144951, u'refsource': u'N Engl J Med. 2009 Jan 15;360(3):304', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': 18650508, u'refsource': u'N Engl J Med. 2008 Aug 21;359(8):856-8', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1056/NEJMoa0801936', u'authors': [{u'name': u'SEARCH Collaborative Group.', u'clusterid': u'', u'authtype': u'CollectiveName'}, {u'name': u'Link E', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Parish S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Armitage J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bowman L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Heath S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Matsuda F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gut I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lathrop M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Collins R', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'N Engl J Med', u'chapter': u'', u'articleids': [{u'value': u'18650507', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'NEJMoa0801936', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1056/NEJMoa0801936', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18650507', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18650507', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'359'}", "phenotypes": [{"body_part": "heart", "fun": false, "description": "Response to statin therapy", "rsid": "4149056"}], "chrom": "12", "pos": 21331549, "personal": false}, {"title": "PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.", "authors": "Schormair B", "abstract": "We identified association of restless legs syndrome (RLS) with\n PTPRD at 9p23-24 in 2,458 affected individuals and 4,749 controls from\n Germany, Austria, Czechia and Canada. Two independent SNPs in the 5' UTR of\n splice variants expressed predominantly in the central nervous system showed\n highly significant P values (rs4626664, P(nominal/lambda corrected) = 5.91 x\n 10(-10), odds ratio (OR) = 1.44; rs1975197, P(nominal/lambda corrected) =\n 5.81 x 10(-9), OR = 1.31). This work identifies PTPRD as the fourth\n genome-wide significant locus for RLS.", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 51, "pubmed_id": "18660810", "published_on": "2008-07-27", "metadata": "{u'essn': u'1546-1718', u'pages': u'946-8', u'locationlabel': u'', u'pubdate': u'2008 Aug', u'medium': u'', u'pubtype': [u'Journal Article'], u'availablefromurl': u'', u'issue': u'8', u'booktitle': u'', u'epubdate': u'2008 Jul 27', u'sorttitle': u'ptprd protein tyrosine phosphatase receptor type delta is associated with restless legs syndrome', u'lastauthor': u'Winkelmann J', u'title': u'PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u'Schormair B', u'sortpubdate': u'2008/08/01 00:00', u'uid': u'18660810', u'pmcrefcount': 51, u'pubstatus': u'256', u'history': [{u'pubstatus': u'received', u'date': u'2008/02/15 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/06/03 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/07/29 09:00'}, {u'pubstatus': u'medline', u'date': u'2008/09/03 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/07/29 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.190', u'authors': [{u'name': u'Schormair B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Kemlink D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Roeske D', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Eckstein G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Xiong L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Lichtner P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Ripke S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Trenkwalder C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Zimprich A', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Stiasny-Kolster K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Oertel W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Bachmann CG', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Paulus W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'H\\xf6gl B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Frauscher B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gschliesser V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Poewe W', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Peglau I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Vodicka P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'V\\xe1vrov\\xe1 J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Sonka K', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nevsimalova S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Montplaisir J', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Turecki G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Rouleau G', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Gieger C', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Illig T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Wichmann HE', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Holsboer F', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'M\\xfcller-Myhsok B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Meitinger T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Winkelmann J', u'clusterid': u'', u'authtype': u'Author'}], u'attributes': [u'Has Abstract'], u'source': u'Nat Genet', u'chapter': u'', u'articleids': [{u'value': u'18660810', u'idtypen': 1, u'idtype': u'pubmed'}, {u'value': u'ng.190', u'idtypen': 4, u'idtype': u'pii'}, {u'value': u'10.1038/ng.190', u'idtypen': 3, u'idtype': u'doi'}, {u'value': u'18660810', u'idtypen': 8, u'idtype': u'rid'}, {u'value': u'18660810', u'idtypen': 8, u'idtype': u'eid'}], u'bookname': u'', u'srccontriblist': [], u'publishername': u'', u'srcdate': u'', u'doccontriblist': [], u'doctype': u'citation', u'recordstatus': u'PubMed - indexed for MEDLINE', u'lang': [u'eng'], u'edition': u'', u'volume': u'40'}", "phenotypes": [{"body_part": "", "fun": false, "description": "Restless legs syndrome", "rsid": "1975197"}, {"body_part": "", "fun": false, "description": "Restless legs syndrome", "rsid": "4626664"}], "chrom": "9", "pos": 8846955, "personal": false}, {"title": "Identification of loci associated with schizophrenia by genome-wide association and follow-up.", "authors": "O'Donovan MC", "abstract": "We carried out a genome-wide association study of schizophrenia\n (479 cases, 2,937 controls) and tested loci with P < 10(-5) in up to 16,726\n additional subjects. Of 12 loci followed up, 3 had strong independent support\n (P < 5 x 10(-4)), and the overall pattern of replication was unlikely to\n occur by chance (P = 9 x 10(-8)). Meta-analysis provided strongest evidence\n for association around ZNF804A (P = 1.61 x 10(-7)) and this strengthened when\n the affected phenotype included bipolar disorder (P = 9.96 x 10(-9)).", "journal": {"name": "Nat Genet", "impact_factor": 0.0}, "refcount": 327, "pubmed_id": "18677311", "published_on": "2008-07-30", "metadata": "{u'essn': u'1546-1718', u'pages': u'1053-5', u'locationlabel': u'', u'pubdate': u'2008 Sep', u'medium': u'', u'pubtype': [u'Journal Article', u'Meta-Analysis'], u'availablefromurl': u'', u'issue': u'9', u'booktitle': u'', u'epubdate': u'', u'sorttitle': u'identification of loci associated with schizophrenia by genome wide association and follow up', u'lastauthor': u'Cloninger CR', u'title': u'Identification of loci associated with schizophrenia by genome-wide association and follow-up.', u'fulljournalname': u'Nature genetics', u'publisherlocation': u'', u'sortfirstauthor': u\"O'Donovan MC\", u'sortpubdate': u'2008/09/01 00:00', u'uid': u'18677311', u'pmcrefcount': 327, u'pubstatus': u'4', u'history': [{u'pubstatus': u'received', u'date': u'2008/03/10 00:00'}, {u'pubstatus': u'accepted', u'date': u'2008/06/27 00:00'}, {u'pubstatus': u'pubmed', u'date': u'2008/08/05 09:00'}, {u'pubstatus': u'medline', u'date': u'2009/02/10 09:00'}, {u'pubstatus': u'entrez', u'date': u'2008/08/05 09:00'}], u'issn': u'1061-4036', u'nlmuniqueid': u'9216904', u'docdate': u'', u'vernaculartitle': u'', u'references': [{u'note': u'', u'pmid': 21491642, u'refsource': u'Nat Rev Genet. 2008 Sep;9(9):654', u'reftype': u'Comment in'}, {u'note': u'', u'pmid': 19165917, u'refsource': u'Nat Genet. 2008 Sep;40(9):1042-4', u'reftype': u'Comment in'}], u'reportnumber': u'', u'elocationid': u'doi: 10.1038/ng.201', u'authors': [{u'name': u\"O'Donovan MC\", u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Craddock N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Norton N', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Williams H', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Peirce T', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Moskvina V', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Nikolov I', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hamshere M', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Carroll L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Georgieva L', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Dwyer S', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Holmans P', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Marchini JL', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Spencer CC', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Howie B', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Leung HT', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'Hartmann AM', u'clusterid': u'', u'authtype': u'Author'}, {u'name': u'M\\xf6ller HJ', u'clusterid': u'', u'authtype': 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