Global genetic differentiation of complex traits shaped by natural selection in humans

Nat Commun. 2018 May 14;9(1):1865. doi: 10.1038/s41467-018-04191-y.

Abstract

There are mean differences in complex traits among global human populations. We hypothesize that part of the phenotypic differentiation is due to natural selection. To address this hypothesis, we assess the differentiation in allele frequencies of trait-associated SNPs among African, Eastern Asian, and European populations for ten complex traits using data of large sample size (up to ~405,000). We show that SNPs associated with height ([Formula: see text]), waist-to-hip ratio ([Formula: see text]), and schizophrenia ([Formula: see text]) are significantly more differentiated among populations than matched "control" SNPs, suggesting that these trait-associated SNPs have undergone natural selection. We further find that SNPs associated with height ([Formula: see text]) and schizophrenia ([Formula: see text]) show significantly higher variance in linkage disequilibrium (LD) scores across populations than control SNPs. Our results support the hypothesis that natural selection has shaped the genetic differentiation of complex traits, such as height and schizophrenia, among worldwide populations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • African Continental Ancestry Group
  • Alleles
  • Asian Continental Ancestry Group
  • Body Height
  • European Continental Ancestry Group
  • Gene Frequency
  • Genome, Human*
  • Genome-Wide Association Study
  • Humans
  • Linkage Disequilibrium
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Quantitative Trait Loci
  • Quantitative Trait, Heritable*
  • Sample Size
  • Schizophrenia / ethnology
  • Schizophrenia / genetics*
  • Schizophrenia / pathology
  • Selection, Genetic*
  • Waist-Hip Ratio