ACTN3 R577X polymorphism and team-sport performance: A study involving three European cohorts

Abstract Objectives To determine the association between the α-actinin-3 ( ACTN3 ) R577X polymorphism and elite team-sport athletic status in three cohorts of European team-sport athletes. Design We compared the genotype and allele frequencies of the ACTN3 R577X (rs1815739) polymorphisms between team-sport athletes ( n = 205), endurance athletes ( n = 305), sprint/power athletes ( n = 378), and non-athletic controls ( n = 568) from Poland, Russia and Spain; all participants were unrelated European men. Methods Genomic DNA was extracted from either buccal epithelium or peripheral blood using a standard protocol. Genotyping was performed using several methods, and the results were replicated following recent recommendations for genotype–phenotype association studies. Results Genotype distributions of all control and athletic groups met Hardy–Weinberg equilibrium (all p > 0.05). Team-sport athletes were less likely to have the 577RR genotype compared to the 577XX genotype than sprint/power athletes [odds ratio: 0.58, 95% confidence interval: 0.34–0.39, p = 0.045]. However, the ACTN3 R577X polymorphism was not associated with team-sports athletic status, compared to endurance athletes and non-athletic controls. Furthermore, no association was observed for any of the genotypes with respect to the level of competition (elite vs. national level). Conclusions The ACTN3 R577X polymorphism was not associated with team-sport athletic status, compared to endurance athletes and non-athletic controls, and the observation that the 577RR genotype is overrepresented in power/sprint athletes compared with team-sport athletes needs to be confirmed in future studies.