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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.

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