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

作者:Eynon Nir*; Banting Lauren K; Ruiz Jonatan R; Cieszczyk Pawel; Dyatlov Dmitry A; Maciejewska Karlowska Agnieszka; Sawczuk Marek; Pushkarev Vladimir P; Kulikov Leonid M; Pushkarev Evgeny D; Femia Pedro; Stepto Nigel K; Bishop David J; Lucia Alejandro
来源:Journal of Science and Medicine in Sport, 2014, 17(1): 102-106.
DOI:10.1016/j.jsams.2013.02.005

摘要

Objectives: To determine the association between the alpha-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 = 0.0451. 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.

  • 出版日期2014-1