Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies

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dc.contributor.authorRivadeneira, F.en
dc.contributor.authorStyrkarsdottir, U.en
dc.contributor.authorEstrada, K.en
dc.contributor.authorHalldorsson, B. V.en
dc.contributor.authorHsu, Y. H.en
dc.contributor.authorRichards, J. B.en
dc.contributor.authorZillikens, M. C.en
dc.contributor.authorKavvoura, F. K.en
dc.contributor.authorAmin, N.en
dc.contributor.authorAulchenko, Y. S.en
dc.contributor.authorCupples, L. A.en
dc.contributor.authorDeloukas, P.en
dc.contributor.authorDemissie, S.en
dc.contributor.authorGrundberg, E.en
dc.contributor.authorHofman, A.en
dc.contributor.authorKong, A.en
dc.contributor.authorKarasik, D.en
dc.contributor.authorvan Meurs, J. B.en
dc.contributor.authorOostra, B.en
dc.contributor.authorPastinen, T.en
dc.contributor.authorPols, H. A.en
dc.contributor.authorSigurdsson, G.en
dc.contributor.authorSoranzo, N.en
dc.contributor.authorThorleifsson, G.en
dc.contributor.authorThorsteinsdottir, U.en
dc.contributor.authorWilliams, F. M.en
dc.contributor.authorWilson, S. G.en
dc.contributor.authorZhou, Y.en
dc.contributor.authorRalston, S. H.en
dc.contributor.authorvan Duijn, C. M.en
dc.contributor.authorSpector, T.en
dc.contributor.authorKiel, D. P.en
dc.contributor.authorStefansson, K.en
dc.contributor.authorIoannidis, J. P.en
dc.contributor.authorUitterlinden, A. G.en
dc.date.accessioned2015-11-24T19:02:25Z
dc.date.available2015-11-24T19:02:25Z
dc.identifier.issn1546-1718-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/19798
dc.rightsDefault Licence-
dc.subjectBone Density/*geneticsen
dc.subjectEuropean Continental Ancestry Group/geneticsen
dc.subjectFemur/physiologyen
dc.subjectFractures, Bone/geneticsen
dc.subjectGene Expression Regulationen
dc.subject*Genome-Wide Association Studyen
dc.subjectGenotypeen
dc.subjectHumansen
dc.subjectLumbar Vertebrae/physiologyen
dc.subject*Polymorphism, Single Nucleotideen
dc.subjectQuantitative Trait Locien
dc.subjectRisk Factorsen
dc.titleTwenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studiesen
heal.abstractBone mineral density (BMD) is a heritable complex trait used in the clinical diagnosis of osteoporosis and the assessment of fracture risk. We performed meta-analysis of five genome-wide association studies of femoral neck and lumbar spine BMD in 19,195 subjects of Northern European descent. We identified 20 BMD loci that reached genome-wide significance (GWS; P < 5 x 10(-8)), of which 13 map to regions not previously associated with this trait: 1p31.3 (GPR177), 2p21 (SPTBN1), 3p22 (CTNNB1), 4q21.1 (MEPE), 5q14 (MEF2C), 7p14 (STARD3NL), 7q21.3 (FLJ42280), 11p11.2 (LRP4, ARHGAP1, F2), 11p14.1 (DCDC5), 11p15 (SOX6), 16q24 (FOXL1), 17q21 (HDAC5) and 17q12 (CRHR1). The meta-analysis also confirmed at GWS level seven known BMD loci on 1p36 (ZBTB40), 6q25 (ESR1), 8q24 (TNFRSF11B), 11q13.4 (LRP5), 12q13 (SP7), 13q14 (TNFSF11) and 18q21 (TNFRSF11A). The many SNPs associated with BMD map to genes in signaling pathways with relevance to bone metabolism and highlight the complex genetic architecture that underlies osteoporosis and variation in BMD.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.primary10.1038/ng.446-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/19801982-
heal.journalNameNat Geneten
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2009-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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