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

Hum Mol Genet. 2015 Mar 15;24(6):1791-800. doi: 10.1093/hmg/ddu583. Epub 2014 Nov 26.

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 from Europeans-based GWA studies in Asians; however, population-specific loci may exist due to distinct linkage disequilibrium patterns. We carried out a GWA meta-analysis in 93 926 individuals from East 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.

Publication types

  • Meta-Analysis
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Asian Continental Ancestry Group / genetics*
  • Body Height / genetics*
  • European Continental Ancestry Group / genetics
  • Far East
  • Female
  • Gene Frequency
  • Genetic Loci
  • Genome-Wide Association Study
  • Humans
  • Male
  • Metabolic Networks and Pathways / genetics
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Protein Tyrosine Phosphatases / genetics
  • Young Adult

Substances

  • Protein Tyrosine Phosphatases