Interethnic analyses of blood pressure loci in populations of East Asian and European descent

Nat Commun. 2018 Nov 28;9(1):5052. doi: 10.1038/s41467-018-07345-0.

Abstract

Blood pressure (BP) is a major risk factor for cardiovascular disease and more than 200 genetic loci associated with BP are known. Here, we perform a multi-stage genome-wide association study for BP (max N = 289,038) principally in East Asians and meta-analysis in East Asians and Europeans. We report 19 new genetic loci and ancestry-specific BP variants, conforming to a common ancestry-specific variant association model. At 10 unique loci, distinct non-rare ancestry-specific variants colocalize within the same linkage disequilibrium block despite the significantly discordant effects for the proxy shared variants between the ethnic groups. The genome-wide transethnic correlation of causal-variant effect-sizes is 0.898 and 0.851 for systolic and diastolic BP, respectively. Some of the ancestry-specific association signals are also influenced by a selective sweep. Our results provide new evidence for the role of common ancestry-specific variants and natural selection in ethnic differences in complex traits such as BP.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian Continental Ancestry Group
  • Blood Pressure / genetics
  • Blood Pressure / physiology*
  • Continental Population Groups / genetics
  • Europe
  • European Continental Ancestry Group
  • Female
  • Genetic Loci / genetics
  • Genome-Wide Association Study
  • Humans
  • Linkage Disequilibrium / genetics
  • Male
  • Polymorphism, Single Nucleotide / genetics