The Association of Sport Performance With ACE and ACTN3 Genetic Polymorphisms: A Systematic Review and Meta-Analysis

PLoS One. 2013;8(1):e54685. doi: 10.1371/journal.pone.0054685. Epub 2013 Jan 24.

Abstract

Background: Genetic polymorphism is suggested to be associated with human physical performance. The angiotensin I-converting enzyme insertion/deletion (ACE I/D) polymorphism and the α-actinin-3 gene (ACTN3) R577X polymorphism have been most widely studied for such association analysis. However, the findings are frequently heterogeneous. We aim to summarize the associations of ACE I/D and ACTN3 R577X with sport performance by means of meta-analysis.

Methods: We systematically reviewed and quantitatively summarized published studies, until October 31, 2012, on relationship between ACE/ACTN3 genetic polymorphisms and sports performance, respectively.

Results: A total of 366 articles on ACE and 88 articles on ACTN3 were achieved by literature search. A significant association was found for ACE II genotype compared to D allele carriage (DD+ID) with increased possibility of physical performance (OR, 1.23; 95% CI, 1.05-1.45). With respect to sport discipline, the II genotype was found to be associated with performance in endurance athletes (OR, 1.35; 95% CI, 1.17-1.55). On the other hand, no significant association was observed for ACTN3 RR genotype as compared to X allele carriage (XX+RX) (OR, 1.03; 95% CI, 0.92-1.15). However, when restricted the analyses to power events, a significant association was observed (OR, 1.21; 95% CI, 1.03-1.42).

Conclusion: Our results provide more solid evidence for the associations between ACE II genotype and endurance events and between ACTN3 R allele and power events. The findings suggest that the genetic profiles might influence human physical performance.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't
  • Review
  • Systematic Review

MeSH terms

  • Actinin / genetics*
  • Athletic Performance*
  • Female
  • Humans
  • Male
  • Peptidyl-Dipeptidase A / genetics*
  • Polymorphism, Genetic*

Substances

  • ACTN3 protein, human
  • Actinin
  • Peptidyl-Dipeptidase A

Grant support

This study was supported by the New Century Excellent Talents Support Program of the Chinese Ministry of Education (NCET-01-0288). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.