Department of Gene Diagnostics and Therapeutics, Research Institute, International Medical Center of Japan, Tokyo, Japan.
J Hum Genet. 2009 Dec;54(12):749-52. doi: 10.1038/jhg.2009.99. Epub 2009 Oct 16.
Adult height is a highly heritable, classic polygenic trait. The recent advent of genome-wide association studies has led to the identification of robust association at common variants influencing the normal variation of height; the number of loci has now risen to 50. The present study tested the potential overlap of height associations at 46 loci that were previously reported in European-descent populations with those among 1530 Japanese subjects and also attempted to replicate the suggestive association signals that were previously reported in East Asians alone. We found a total of 20 independent loci to be significantly (P<0.05) associated with height among the Japanese subjects (N< or =6814); 19 loci were originally identified in Europeans and the remaining 1 locus (ZFAT) was previously reported in Koreans (P=3.8 x 10(-9) with the Japanese and Korean data combined for ZFAT). Although 41% (19 of 46) of the loci were nominally replicated, a higher proportion of the tested loci seemed to overlap between the Japanese and Europeans; 83% (38 of 46) of the loci showed a concordant direction of association between the two ethnic groups. Despite the substantial inter-population overlap observed in the present study, further investigation is warranted to search for loci with enhanced genetic impacts in East Asians than in Europeans.
成人身高是一种高度遗传的经典多基因特征。最近全基因组关联研究的出现导致了常见变异对身高正常变化的有力关联的鉴定；现在已经有 50 个位点。本研究在欧洲血统人群中先前报道的 46 个与身高相关的位点，测试了它们与 1530 名日本受试者之间的潜在重叠，并试图复制先前在东亚人群中单独报道的提示关联信号。我们发现，在日本受试者中（N<或=6814），共有 20 个独立的位点与身高显著相关（P<0.05）；其中 19 个位点最初在欧洲人中发现，而其余 1 个位点（ZFAT）在韩国人中也有报道（在日本和韩国的数据合并后，P=3.8 x 10(-9)）。虽然 41%（19 个中的 46 个）的位点在名义上得到了复制，但在日本和欧洲人群之间，更多的测试位点似乎重叠；在这两个种族群体之间，83%（46 个中的 38 个）的位点显示出一致的关联方向。尽管在本研究中观察到了大量的人群重叠，但仍需要进一步研究，以寻找在东亚人群中比在欧洲人群中具有更强遗传影响的位点。
