Thinking About the Evolution of Complex Traits in the Era of Genome-Wide Association Studies

Annu Rev Genomics Hum Genet. 2019 Aug 31:20:461-493. doi: 10.1146/annurev-genom-083115-022316. Epub 2019 Jul 5.


Many traits of interest are highly heritable and genetically complex, meaning that much of the variation they exhibit arises from differences at numerous loci in the genome. Complex traits and their evolution have been studied for more than a century, but only in the last decade have genome-wide association studies (GWASs) in humans begun to reveal their genetic basis. Here, we bring these threads of research together to ask how findings from GWASs can further our understanding of the processes that give rise to heritable variation in complex traits and of the genetic basis of complex trait evolution in response to changing selection pressures (i.e., of polygenic adaptation). Conversely, we ask how evolutionary thinking helps us to interpret findings from GWASs and informs related efforts of practical importance.

Keywords: GWAS; complex traits; evolution; genetic architecture; genome-wide association study; polygenic adaptation; quantitative genetics.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Evolution, Molecular*
  • Genetic Variation
  • Genome-Wide Association Study
  • Humans
  • Models, Genetic*
  • Multifactorial Inheritance*
  • Quantitative Trait Loci