Title European bone mineral density loci are also associated withBMD in East-Asian populations

Most genome-wide association (GWA) studies have focused on populations of European ancestry with limited assessment of the influence of the sequence variants on populations of other ethnicities. To determine whether markers that we have recently shown to associate with Bone Mineral Density (BMD) in Europeans also associate with BMD in East-Asians we analysed 50 markers from 23 genomic loci in samples from Korea (n = 1,397) and two Chinese Hong Kong sample sets (n = 3,869 and n = 785). Through this effort we identified fourteen loci that associated with BMD in East-Asian samples using a false discovery rate (FDR) of 0.05; 1p36 (ZBTB40, P = 4.3610), 1p31 (GPR177, P = 0.00012), 3p22 (CTNNB1, P = 0.00013), 4q22 (MEPE, P = 0.0026), 5q14 (MEF2C, P = 1.3610), 6q25 (ESR1, P = 0.0011), 7p14 (STARD3NL, P = 0.00025), 7q21 (FLJ42280, P = 0.00017), 8q24 (TNFRSF11B, P = 3.4610), 11p15 (SOX6, P = 0.00033), 11q13 (LRP5, P = 0.0033), 13q14 (TNFSF11, P = 7.5610), 16q24 (FOXL1, P = 0.0010) and 17q21 (SOST, P = 0.015). Our study marks an early effort towards the challenge of cataloguing bone density variants shared by many ethnicities by testing BMD variants that have been established in Europeans, in East-Asians. Citation: Styrkarsdottir U, Halldorsson BV, Gudbjartsson DF, Tang NLS, Koh J-M, et al. (2010) European Bone Mineral Density Loci Are Also Associated with BMD in East-Asian Populations. PLoS ONE 5(10): e13217. doi:10.1371/journal.pone.0013217 Editor: Kerby Shedden, University of Michigan, United States of America Received July 9, 2010; Accepted September 11, 2010; Published October 7, 2010 Copyright: 2010 Styrkarsdottir et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Funding: This work was supported by deCODE Genetics and funded in part by the European Community’s Seventh Framework Programme (FP7/2007–2013)/ grant agreement HEALTH-F2-2008-201865-GEFOS. The Korean study was supported by a grant from the Korea Healthcare Technology R&D Project, Ministry for Health, Welfare & Family Affairs, Republic of Korea (Project No.: A010252). The Chinese Hong Kong-I study was supported in part by grants from Research Grants Council of Hong Kong, (CUHK 4101/02M), Direct Grant from the Chinese University of Hong Kong, the Centre for Nutritional Studies, School of Public Health and Primary Care, and the Hong Kong Jockey Club Charities Foundation. The Hong Kong-II study was supported by Hong Kong Research Grant Council; The Bone Health fund of HKU Foundation; Matching Grant, CRCG Grant and The Osteoporosis Research Fund of The University of Hong Kong. The study design, data generation (in part), overall analysis of data, decision to publish and preparation of the manuscript was lead by employees of deCODE Genetics, a funder of this study. Competing Interests: Authors affiliated with deCODE Genetics are employees of deCODE Genetics. This does not alter the authors’ adherence to all the PLoS ONE policies on sharing data and material. * E-mail: kari.stefansson@decode.is (KS); unnur.styrkarsdottir@decode.is (US)