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dc.contributor.authorPeltonen, Leena
dc.contributor.authorTimpson, Nicholas J.
dc.contributor.authorTobias, Jon H.
dc.contributor.authorRichards, J. Brent
dc.contributor.authorSoranzo, Nicole
dc.contributor.authorDuncan, Emma L.
dc.contributor.authorSims, Anne-Marie
dc.contributor.authorWhittaker, Pamela
dc.contributor.authorKumanduri, Vasudev
dc.contributor.authorZhai, Guangju
dc.contributor.authorGlaser, Beate
dc.contributor.authorEisman, John
dc.contributor.authorJones, Graeme
dc.contributor.authorNicholson, Geoff
dc.contributor.authorPrince, Richard
dc.contributor.authorSeeman, Ego
dc.contributor.authorSpector, Tim D.
dc.contributor.authorBrown, Matthew A.
dc.contributor.authorDavey-Smith, George
dc.contributor.authorDeloukas, Panos
dc.contributor.authorEvans, David M.
dc.date.accessioned2012-09-21T12:56:22Z
dc.date.available2012-09-21T12:56:22Z
dc.date.issued2009-01
dc.date.submitted2009-01
dc.identifier.issn0964-6906
dc.identifier.issn1460-2083
dc.identifier.urihttp://hdl.handle.net/1721.1/73094
dc.description.abstractPeak bone mass achieved in adolescence is a determinant of bone mass in later life. In order to identify genetic variants affecting bone mineral density (BMD), we performed a genome-wide association study of BMD and related traits in 1518 children from the Avon Longitudinal Study of Parents and Children (ALSPAC). We compared results with a scan of 134 adults with high or low hip BMD. We identified associations with BMD in an area of chromosome 12 containing the Osterix (SP7) locus, a transcription factor responsible for regulating osteoblast differentiation (ALSPAC: P = 5.8 × 10[superscript −4]; Australia: P = 3.7 × 10[superscript −4]). This region has previously shown evidence of association with adult hip and lumbar spine BMD in an Icelandic population, as well as nominal association in a UK population. A meta-analysis of these existing studies revealed strong association between SNPs in the Osterix region and adult lumbar spine BMD (P = 9.9 × 10[superscript −11). In light of these findings, we genotyped a further 3692 individuals from ALSPAC who had whole body BMD and confirmed the association in children as well (P = 5.4 × 10[superscript −5]). Moreover, all SNPs were related to height in ALSPAC children, but not weight or body mass index, and when height was included as a covariate in the regression equation, the association with total body BMD was attenuated. We conclude that genetic variants in the region of Osterix are associated with BMD in children and adults probably through primary effects on growth.en_US
dc.language.isoen_US
dc.publisherOxford University Press (OUP)en_US
dc.relation.isversionofhttp://dx.doi.org/10.1093/hmg/ddp052en_US
dc.rightsCreative Commons Attribution Non-Commercialen_US
dc.rights.urihttp://creativecommons.org/licenses/by-nc/2.5en_US
dc.sourceOxforden_US
dc.titleCommon variants in the region around Osterix are associated with bone mineral density and growth in childhooden_US
dc.typeArticleen_US
dc.identifier.citationTimpson, N. J. et al. “Common Variants in the Region Around Osterix Are Associated with Bone Mineral Density and Growth in Childhood.” Human Molecular Genetics 18.8 (2009): 1510–1517.en_US
dc.contributor.departmentBroad Institute of MIT and Harvarden_US
dc.contributor.mitauthorPeltonen, Leena
dc.relation.journalHuman Molecular Geneticsen_US
dc.eprint.versionFinal published versionen_US
dc.type.urihttp://purl.org/eprint/type/JournalArticleen_US
eprint.statushttp://purl.org/eprint/status/PeerRevieweden_US
dspace.orderedauthorsTimpson, N. J.; Tobias, J. H.; Richards, J. B.; Soranzo, N.; Duncan, E. L.; Sims, A.-M.; Whittaker, P.; Kumanduri, V.; Zhai, G.; Glaser, B.; Eisman, J.; Jones, G.; Nicholson, G.; Prince, R.; Seeman, E.; Spector, T. D.; Brown, M. A.; Peltonen, L.; Smith, G. D.; Deloukas, P.; Evans, D. M.en
mit.licensePUBLISHER_CCen_US


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