The genetics of human performance

Nat Rev Genet. 2022 Jan;23(1):40-54. doi: 10.1038/s41576-021-00400-5. Epub 2021 Sep 14.


Human physiology is likely to have been selected for endurance physical activity. However, modern humans have become largely sedentary, with physical activity becoming a leisure-time pursuit for most. Whereas inactivity is a strong risk factor for disease, regular physical activity reduces the risk of chronic disease and mortality. Although substantial epidemiological evidence supports the beneficial effects of exercise, comparatively little is known about the molecular mechanisms through which these effects operate. Genetic and genomic analyses have identified genetic variation associated with human performance and, together with recent proteomic, metabolomic and multi-omic analyses, are beginning to elucidate the molecular genetic mechanisms underlying the beneficial effects of physical activity on human health.

Publication types

  • Review

MeSH terms

  • Dementia / genetics
  • Exercise / genetics*
  • Genetic Variation
  • Genome-Wide Association Study / methods*
  • Humans
  • Metabolic Syndrome / genetics
  • Metabolomics / methods*
  • Molecular Biology / methods*
  • Neoplasms / genetics
  • Physical Endurance / genetics*
  • Proteomics / methods*
  • Risk Factors