Human Molecular Genetics, 2015, 01, 1791─1780

Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci

M He, M Xu, B Zhang, J Liang, P Chen, J Lee, Hongbing Shen, Yik Ying Teo, ZengnanMo, Tien YinWong, Xu Lin, Karen L. Mohlke, Guang Ning, Tatsuhiko Tsunoda, Bok-Ghee Han, Xiao-Ou Shu, E. Shyong Tai, Tangchun Wu, Lu Qi

Abstract

Human height is associated with risk of multiple diseases and is profoundly determined by an individual’s genetic makeup and shows a high degree of ethnic heterogeneity. Large-scale genome-wide association (GWA) analyses of adult height in Europeans have identified nearly 180 genetic loci. A recent study showed high replicability of results fromEuropeans-basedGWA studies in Asians; however, population-specific locimay exist due to distinct linkage disequilibrium patterns.We carried out aGWA metaanalysis in 93 926 individuals fromEast Asia. We identified 98 loci, including 17 novel and 81 previously reported loci, associated with height at P< 5× 10？8, together explaining 8.89% of phenotypic variance. Among the newly identified variants, 10 are commonly distributed (minor allele frequency, MAF > 5%) in Europeans, with comparable frequencies with in Asians, and 7 single-nucleotide polymorphisms are with low frequency (MAF < 5%) in Europeans. In addition, our data suggest that novel biological pathway such as the protein tyrosine phosphatase family is involved in regulation of height. The findings from this study considerably expand our knowledge of the genetic architecture of human height in Asians.

• ISBN or ISSN: 0964-6906

• 본 연구는 질병관리본부 연구개발과제(과제번호 2012-N73002-00) 연구비를 지원받아 수행되었습니다.
• This research was supported by a fund(code 2012-N73002-00) by Research of Korea Centers for Disease Control and Prevention.