deCODE Genetics, Reykjavik, Iceland.
PLoS One. 2010 Oct 7;5(10):e13217. doi: 10.1371/journal.pone.0013217.
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 = 4.3×10(-9)), 1p31 (GPR177, P = 0.00012), 3p22 (CTNNB1, P = 0.00013), 4q22 (MEPE, P = 0.0026), 5q14 (MEF2C, P = 1.3×10(-5)), 6q25 (ESR1, P = 0.0011), 7p14 (STARD3NL, P = 0.00025), 7q21 (FLJ42280, P = 0.00017), 8q24 (TNFRSF11B, P = 3.4×10(-5)), 11p15 (SOX6, P = 0.00033), 11q13 (LRP5, P = 0.0033), 13q14 (TNFSF11, P = 7.5×10(-5)), 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.
大多数全基因组关联(GWA)研究都集中在欧洲血统的人群上,对这些序列变体对其他种族人群的影响评估有限。为了确定我们最近在欧洲人群中发现与骨密度(BMD)相关的标记物是否也与东亚人群的 BMD 相关,我们分析了来自韩国(n=1397)和两个中国香港样本集(n=3869 和 n=785)的 23 个基因组座的 50 个标记物。通过这项研究,我们确定了 14 个与东亚人群 BMD 相关的位点,使用错误发现率(FDR)为 0.05;1p36(ZBTB40,P=4.3×10(-9))、1p31(GPR177,P=0.00012)、3p22(CTNNB1,P=0.00013)、4q22(MEPE,P=0.0026)、5q14(MEF2C,P=1.3×10(-5))、6q25(ESR1,P=0.0011)、7p14(STARD3NL,P=0.00025)、7q21(FLJ42280,P=0.00017)、8q24(TNFRSF11B,P=3.4×10(-5))、11p15(SOX6,P=0.00033)、11q13(LRP5,P=0.0033)、13q14(TNFSF11,P=7.5×10(-5))、16q24(FOXL1,P=0.0010)和 17q21(SOST,P=0.015)。我们的研究标志着朝着对许多种族共同的骨密度变异进行编目的挑战迈出的早期努力,通过测试在欧洲人群中已经建立的 BMD 变异在东亚人群中的表现。