From Single Markers to Polygenic Panels: A Systematic Review of Genetics in Athletic Performance

Genetic factors contribute to variability in athletic performance among individuals, although their overall impact and practical relevance remain unclear. This systematic review aimed to provide an updated synthesis of genetic variation associated with athlete status and performance-related phenotypes. PubMed and Web of Science were searched for studies published between 1998 and 1 March 2026 examining athlete status, physical performance, training response, cardiorespiratory fitness, sport-related injury, and related phenotypes using candidate-gene, genome-wide, sequencing-based, or polygenic approaches. Study selection, data extraction, and reporting followed PRISMA 2020, and reporting completeness was assessed using a prespecified STROBE/STREGA-based checklist. In total, 204 studies were included. ACE insertion/deletion and ACTN3 rs1815739 remained the most extensively investigated candidate variants, but their associations were heterogeneous across phenotypes and populations. Only two athlete-status loci, MYBPC3 rs1052373 and GALNT13 rs10196189, were supported by replicated genome-wide evidence, and 71% of studies included European-ancestry cohorts. Total-genotype-score (TGS) and polygenic-score (PGS) approaches better reflected the polygenic architecture of performance, although external validation and transferability across populations remained limited. Overall, individual variants showed modest, context-dependent effects, and current genetic evidence is insufficient for individual talent identification, injury prediction, or training prescription.