Abstract

BackgroundGenetic 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.MethodsWe systematically reviewed and quantitatively summarized published studies, until October 31, 2012, on relationship between ACE/ACTN3 genetic polymorphisms and sports performance, respectively.ResultsA 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).ConclusionOur 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.

Highlights

  • Elite athletes are defined as the one who has competed at a national or international level in a given sport [1]

  • We aim to summarize the associations of sport performance with angiotensin I-converting enzyme (ACE) and actinin-3 gene (ACTN3) genetic polymorphisms by means of meta-analysis, which might provide more solid evidence as compared with individual reports

  • 37 studies addressing the association of ACE polymorphisms and sport performance, and 35 studies addressing the association of ACTN3 polymorphisms and sport performance were identified for detailed full text evaluation

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Summary

Introduction

Elite athletes are defined as the one who has competed at a national or international level in a given sport [1]. We consider two genes which have been extensively studied for the association with athletic ability, namely, the angiotensin I-converting enzyme (ACE) and aactinin-3 (ACTN3). The I allele, which represents an insertion of 287 bp, is associated with lower serum [5] and tissue [6] ACE activity and improved performance in endurance sports. A genetic variation in the ACTN3 gene that results in the replacement of an arginine (R) with a stop codon (X) at amino acid 577 (R577X, rs1815739) can create two different versions of the ACTN3 gene Both of these two versions are common in the general population. The angiotensin Iconverting enzyme insertion/deletion (ACE I/D) polymorphism and the a-actinin-3 gene (ACTN3) R577X polymorphism have been most widely studied for such association analysis. We aim to summarize the associations of ACE I/D and ACTN3 R577X with sport performance by means of meta-analysis

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