The ACTN3 R577X polymorphism across three groups of elite male European athletes

PLoS One. 2012;7(8):e43132. doi: 10.1371/journal.pone.0043132. Epub 2012 Aug 16.

Abstract

The ACTN3 R577X polymorphism (rs1815739) is a strong candidate to influence elite athletic performance. Yet, controversy exists in the literature owing to between-studies differences in the ethnic background and sample size of the cohorts, the latter being usually low, which makes comparisons difficult. In this case:control genetic study we determined the association between elite athletic status and the ACTN3 R577X polymorphism within three cohorts of European Caucasian men, i.e. Spanish, Polish and Russian [633 cases (278 elite endurance and 355 power athletes), and 808 non-athletic controls]. The odds ratio (OR) of a power athlete harbouring the XX versus the RR genotype compared with sedentary controls was 0.54 [95% confidence interval (CI): 0.34-0.48; P=0.006]. We also observed that the OR of an endurance athlete having the XX versus the RR genotype compared with power athletes was 1.88 (95%CI: 1.07-3.31; P=0.028). In endurance athletes, the OR of a "world-class" competitor having the XX genotype versus the RR+RX genotype was 3.74 (95%CI: 1.08-12.94; P=0.038) compared with those of a lower ("national") competition level. No association (P>0.1) was noted between the ACTN3 R577X polymorphism and competition level (world-class versus national-level) in power athletes. Our data provide comprehensive support for the influence of the ACTN3 R577X polymorphism on elite athletic performance.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actinin / genetics*
  • Adult
  • Athletes*
  • Athletic Performance / physiology
  • Humans
  • Male
  • Polymorphism, Genetic / genetics*
  • White People
  • Young Adult

Substances

  • ACTN3 protein, human
  • Actinin

Grants and funding

This work was supported by the Consejo Superior de Deportes (grant # 001/UPR10/12), Spanish Ministry of Science and Innovation (RYC-2010-05957), Fondo de Investigaciones Sanitarias (ref. # PS09/00194), the Polish Ministry of Science and Higher Education (grant#404166334), and the Ministry of Sport, Tourism and Youth Policy of the Russian Federation. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.