Physical activity and athletic performance are complex phenotypes influenced by environmental and genetic factors. Recent advances in lifestyle and behavioral genomics led to the discovery of dozens of DNA polymorphisms (variants) associated with physical activity and allowed to use them as genetic instruments in Mendelian randomization studies for identifying the causal links between physical activity and health outcomes. On the other hand, exercise and sports genomics studies are focused on the search for genetic variants associated with athlete status, sports injuries and individual responses to training and supplement use. In this review, the findings of studies investigating genetic markers and their associations with physical activity and athlete status are reported. As of the end of September 2023, a total of 149 variants have been associated with various physical activity traits (of which 42 variants are genome-wide significant) and 253 variants have been linked to athlete status (115 endurance-related, 96 power-related, and 42 strength-related).
Keywords: Aging; Elite athletes; Exercise; Fitness; GWAS; Longevity; Nutrition; Sedentary behaviour; Sport; Talent identification; WES.
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