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Defining the role of common variation in the genomic and biological architecture of adult human height

Wood, AR and Esko, T and Yang, J and Vedantam, S and Pers, TH and Gustafsson, S and Chu, AY and Estrada, K and Luan, J and Kutalik, Z and Amin, N and Buchkovich, ML and Croteau-Chonka, DC and Day, FR and Duan, Y and Fall, T and Fehrmann, R and Ferreira, T and Jackson, AU and Karjalainen, J and Lo, KS and Locke, AE and Mägi, R and Mihailov, E and Porcu, E and Randall, JC and Scherag, A and Vinkhuyzen, AAE and Westra, HJ and Winkler, TW and Workalemahu, T and Zhao, JH and Absher, D and Albrecht, E and Anderson, D and Baron, J and Beekman, M and Demirkan, A and Ehret, GB and Feenstra, B and Feitosa, MF and Fischer, K and Fraser, RM and Goel, A and Gong, J and Justice, AE and Kanoni, S and Kleber, ME and Kristiansson, K and Lim, U and Lotay, V and Lui, JC and Mangino, M and Leach, IM and Medina-Gomez, C and Nalls, MA and Nyholt, DR and Palmer, CD and Pasko, D and Pechlivanis, S and Prokopenko, I and Ried, JS and Ripke, S and Shungin, D and Stancáková, A and Strawbridge, RJ and Sung, YJ and Tanaka, T and Teumer, A and Trompet, S and Van Der Laan, SW and Van Setten, J and Van Vliet-Ostaptchouk, JV and Wang, Z and Yengo, L and Zhang, W and Afzal, U and Ärnlöv, J and Arscott, GM and Bandinelli, S and Barrett, A and Bellis, C and Bennett, AJ and Berne, C and Blüher, M and Bolton, JL and Böttcher, Y and Boyd, HA and Bruinenberg, M and Buckley, BM and Buyske, S and Caspersen, IH and Chines, PS and Clarke, R and Claudi-Boehm, S and Cooper, M and Daw, EW and De Jong, PA and Deelen, J and Delgado, G (2014) 'Defining the role of common variation in the genomic and biological architecture of adult human height.' Nature Genetics, 46 (11). 1173 - 1186. ISSN 1061-4036

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Abstract

© 2014 Nature America, Inc. All rights reserved. Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated 1/42,000, 1/43,700 and 1/49,500 SNPs explained 1/421%, 1/424% and 1/429% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were 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/I 2-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.

Item Type: Article
Subjects: Q Science > QH Natural history > QH426 Genetics
Divisions: Faculty of Social Sciences > Institute for Social and Economic Research
Depositing User: Jim Jamieson
Date Deposited: 02 Jul 2015 13:51
Last Modified: 04 Feb 2019 11:16
URI: http://repository.essex.ac.uk/id/eprint/14212

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