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J Hum Genet. 2009 Dec;54(12):749-52. doi: 10.1038/jhg.2009.99. Epub 2009 Oct 16.

Evaluation of genetic loci influencing adult height in the Japanese population.

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  • 1Department of Gene Diagnostics and Therapeutics, Research Institute, International Medical Center of Japan, Tokyo, Japan.


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.

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