Genetica e attività fisica: dalla prestazione atletica alla clinica

Athletic performance results from a multifactorial interaction between genetics and environment. Recent studies have identified polymorphisms associated with distinct athletic phenotypes, including endurance, power, and strength. This study provides an overview of key genes involved in each of these. Endurance, defined as the ability to sustain prolonged efforts through efficient aerobic energy production and utilization, is associated with genes such as ACE, PPARGC1A, HFE, UCP2, UCP3, CDKN1A, and PPARA, which regulate cardiovascular function, mitochondrial efficiency, oxygen transport, and muscle composition. Power, understood as the capacity to generate rapid and intense movements, involves genes like ACTN3, MCT1, IGF-1, AMPD1, AGT, and AGTR2, linked to anaerobic energy production, lactate metabolism, and fast-twitch muscle fibers. Strength, characterized by hypertrophy and maximal force generation, is influenced by AR, PPARG, ARK2N, MMS22L, LRPPRC, PHACTR1, and MTHFR, which are involved in androgen signaling, energy metabolism, and cellular recovery. Genes associated with injury susceptibility, including COL1A1, COL5A1, IL6, VEGFA, and NOGGIN, play roles in collagen synthesis, inflammation, angiogenesis, and tissue regeneration. Finally, genes linked to metabolic risk, such as FTO, PPARG, and ADRB3, are examined, with emphasis on the protective role of regular physical activity in counteracting genetic predispositions to obesity and type 2 diabetes through epigenetic modulation. Overall, these findings support the application of genomics to optimize training, prevent injuries, and personalize exercise in clinical and athletic settings.