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dc.contributor.authorWood, Andrew Ren_US
dc.contributor.authorEsko, Tonuen_US
dc.contributor.authorYang, Jianen_US
dc.contributor.authorVedantam, Sailajaen_US
dc.contributor.authorPers, Tune Hen_US
dc.contributor.authorGustafsson, Stefanen_US
dc.contributor.authorChu, Audrey Yen_US
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dc.contributor.authorLuan, Jian’anen_US
dc.contributor.authorKutalik, Zoltánen_US
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dc.contributor.authorBuchkovich, Martin Len_US
dc.contributor.authorCroteau-Chonka, Damien Cen_US
dc.contributor.authorDay, Felix Ren_US
dc.contributor.authorDuan, Yananen_US
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dc.contributor.authorFehrmann, Rudolfen_US
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dc.contributor.authorJackson, Anne Uen_US
dc.contributor.authorKarjalainen, Juhaen_US
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dc.contributor.authorO’Connell, Jeffrey Ren_US
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dc.date.accessioned2015-06-02T12:20:09Z
dc.date.issued2014en_US
dc.identifier.citationWood, A. R., T. Esko, J. Yang, S. Vedantam, T. H. Pers, S. Gustafsson, A. Y. Chu, et al. 2014. “Defining the role of common variation in the genomic and biological architecture of adult human height.” Nature genetics 46 (11): 1173-1186. doi:10.1038/ng.3097. http://dx.doi.org/10.1038/ng.3097.en
dc.identifier.issn1061-4036en
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:16120873
dc.description.abstractUsing genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explain one-fifth of heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated ~2,000, ~3,700 and ~9,500 SNPs explained ~21%, ~24% and ~29% of phenotypic variance. Furthermore, all common variants together captured the majority (60%) of heritability. The 697 variants clustered in 423 loci enriched for genes, pathways, and tissue-types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/beta-catenin, and chondroitin sulfate-related genes. We identified several genes and pathways not previously connected with human skeletal growth, including mTOR, osteoglycin and binding of hyaluronic acid. Our results indicate a genetic architecture for human height that is characterized by a very large but finite number (thousands) of causal variants.en
dc.language.isoen_USen
dc.relation.isversionofdoi:10.1038/ng.3097en
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC4250049/pdf/en
dash.licenseLAAen_US
dc.titleDefining the role of common variation in the genomic and biological architecture of adult human heighten
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden
dc.relation.journalNature geneticsen
dash.depositing.authorEsko, Tonuen_US
dc.date.available2015-06-02T12:20:09Z
dc.identifier.doi10.1038/ng.3097*
dash.authorsorderedfalse
dash.contributor.affiliatedCroteau-Chonka, Damien
dash.contributor.affiliatedChu, Audrey Yu-lei
dash.contributor.affiliatedEsko, Tõnu
dash.contributor.affiliatedPers, Tune H
dash.contributor.affiliatedRipke, Stephan
dash.contributor.affiliatedQi, Lu
dash.contributor.affiliatedFranks, Paul
dash.contributor.affiliatedRidker, Paul
dash.contributor.affiliatedHunter, David
dash.contributor.affiliatedChasman, Daniel
dash.contributor.affiliatedHirschhorn, Joel
dash.contributor.affiliatedPrice, Alkes


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