Genetics of athletic performance

Annu Rev Genomics Hum Genet. 2009;10:407-29. doi: 10.1146/annurev-genom-082908-150058.


Performance enhancing polymorphisms (PEPs) are examples of natural genetic variation that affect the outcome of athletic challenges. Elite athletes, and what separates them from the average competitor, have been the subjects of discussion and debate for decades. While training, diet, and mental fitness are all clearly important contributors to achieving athletic success, the fact that individuals reaching the pinnacle of their chosen sports often share both physical and physiological attributes suggests a role for genetics. That multiple members of a family often participate in highly competitive events, such as the Olympics, further supports this argument. In this review, we discuss what is known regarding the genes and gene families, including the mitochondrial genome, that are believed to play a role in human athletic performance. Where possible, we describe the physiological impact of the critical gene variants and consider predictions about other potentially important genes. Finally, we discuss the implications of these findings on the future for competitive athletics.

Publication types

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

MeSH terms

  • Athletic Performance*
  • DNA, Mitochondrial / genetics
  • Doping in Sports
  • Genetic Variation*
  • Humans
  • Muscle, Skeletal / anatomy & histology
  • Muscle, Skeletal / metabolism
  • Phenotype
  • Sports / physiology*


  • DNA, Mitochondrial