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

https://doi.org/10.1016/j.jsams.2013.02.005Get rights and content

Abstract

Objectives

To determine the association between the α-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 = 0.045]. 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.

Introduction

The field of genetics and elite athletic performance has made considerable progress in the last two decades, with studies suggesting a significant effect of genetics on athletic performance, even when adjusted for the manifest effect of the environment.1 The majority of studies, so far, have focused on genotyping predominantly power or endurance athletes, who represent the physiological end-points of the sporting continuum. However, the genetic contribution to success in sports that require a combination of anaerobic and aerobic qualities (e.g., team sports such as soccerand water-polo) has received limited attention.

Team sports can be considered as mixed-energy system sports. Athletes engaged in these disciplines are required to repeatedly produce maximal or near maximal efforts (i.e., sprints), interspersed with brief recovery intervals (consisting of complete rest or low- to moderate-intensity activity), over an extended period of time. In this situation, both the aerobic and anaerobic energy systems are important to supply the muscle energy demands during the competition.

The ACTN3 gene, which encodes for the α-actinin-3 protein, is a candidate to influence individuals’ performance in team-sports. The α-actinin-3 protein is almost exclusively expressed in fast, glycolytic, type IIX fibres, which are responsible for producing powerful contractions. North et al.2 have discovered a common null polymorphism (rs1815739) in the ACTN3 gene, which results in replacement of an arginine (R) residue with a premature stop codon (X) at amino acid 577. Approximately 20% of the world population, and 18% of the European population, harbour the ACTN3 577XX genotype and consequently are completely deficient in α-actinin-3.3

The ACTN3 R577X polymorphism has been investigated in the context of human athletic performance, in both elite endurance and power athletes,4, 5, 6 and the general population,7, 8, 9 with the overall conclusion that α-actinin-3 deficiency, as marked by the 577XX genotype, is detrimental to power performance and possibly beneficial to endurance performance. Recently, we have shown, in a large group of elite European athletes (n = 633), that ‘world-class’ endurance athletes were 3.7 times more likely to harbour the 577XX genotype than national-level counterparts, and that elite power athletes were ∼50% less likely to harbour the 577XX genotype compared to sedentary controls.10

Few attempts have been made to investigate the association between the ACTN3 R577X polymorphism and team sport athletic status. Santiago et al.11 showed higher proportions of the 577RR genotype in world-class professional soccer players (n = 60) compared with non-athletic controls and elite endurance athletes. In contrast, no association was found between the ACTN3 R577X polymorphism and athletic performance in a mixed group of elite Lithuanian athletes,12 in Welsh rugby union players (n = 102),13 or in Italian team-sport athletes (i.e., football, basketball, and hockey players; n = 65).14 The inconsistent results in the aforementioned studies performed with elite team-sports athletes may be due to an insufficient sample size, associated with the low number of elite athletes available for analysis.

To overcome the problems of low sample size, we recruited over 200 elite team-sport athletes from three European countries (i.e., Spain, Poland and Russia). We compared the frequency distribution of the ACTN3 R577X polymorphism between team-sport athletes, elite endurance athletes, elite powerathletes, and ethnically matched, non-athletic controls, in a large cohort of European athletes. Given that team-sport athletes perform multiple sprints and jumps during a match, and the frequency distribution of the 577RR genotype is consistently higher in power athletes than it is in controls,15 we hypothesised that the 577RR genotype frequency distribution would be higher in team-sport athletes compared to the control group.

Section snippets

Methods

The study was conducted according to the Declaration of Helsinki. Written informed consent was obtained from all participants, and the study was approved by the Ethics Committees of Universidad Europea de Madrid, Spain, the Pomeranian Medical University, Poland, and the Ural State University of Physical Culture, Russia.

A total of 888 athletes (305 endurance athletes, 378 sprint/power athletes, and 205 team sport athletes) and 568 controls, from Poland, Russia and Spain, participated in this

Results

Replication of genotyping within Spanish, Polish and Russian cohorts with the abovementioned methods gave comparable results (data not shown).

Table 1 shows the genotype and allele frequency distributions amongst all participants according to their nationality. Genotype distributions of all control and athletic groups in each of the three populations met HWE (all p > 0.05). No significant differences in genotype distribution were observed across nationalities in control, team sport, power or elite

Discussion

We studied the association between the ACTN3 R577X polymorphism and team-sport athletic status, in a relatively large group of elite and national-level athletes, comprising three cohorts of European Caucasian athletes. Our main findings were as follows (i) team-sport athletes were less likely to harbour the 577RR genotype than the 577XX genotype, compared to power athletes (p = 0.045), (ii) the ACTN3 R577X polymorphism genotype distribution was similar in the team-sport athletes, endurance

Conclusion

In conclusion, the ACTN3 R577X polymorphism was not significantly associated with team-sport athletic status, compared to endurance athletes and non-athletic controls. However, the 577RR genotype was overrepresented in power/sprint athletes compared with team sports athletes.

Practical implications

  • The results of the present study can assist to understand which genetic profiles contribute to team-sport performance.

  • Discovering the complex relationship between gene variants and team-sport performance may assist coaches to optimise training.

  • The ACTN3 R577X should not be considered to influence team-sport performance.

Acknowledgments

The study was supported by grants from: (1) Consejo Superior de Deportes, Spain (CSD, grant # 001/UPR10/12) and (2) Ministry of Sport of the Russian Federation.

References (27)

  • J. Zois et al.

    High-intensity warm-ups elicit superior performance to a current soccer warm-up routine

    J Sci Med Sport

    (2011)
  • N. Yang et al.

    ACTN3 genotype is associated with human elite athletic performance

    Am J Hum Genet

    (2003)
  • N. Eynon et al.

    Genes and elite athletes: a roadmap for future research

    J Physiol

    (2011)
  • K.N. North et al.

    A common nonsense mutation results in alpha-actinin-3 deficiency in the general population

    Nat Genet

    (1999)
  • M. Mills et al.

    Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy

    Hum Mol Genet

    (2001)
  • N. Eynon et al.

    Is there an ACE ID – ACTN3 R577X polymorphisms interaction that influences sprint performance?

    Int J Sports Med

    (2009)
  • N. Eynon et al.

    ACTN3 R577X polymorphism and Israeli top-level athletes

    Int J Sports Med

    (2009)
  • S.M. Roth et al.

    The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes

    Eur J Hum Genet

    (2008)
  • P.M. Clarkson et al.

    ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women

    J Appl Physiol

    (2005)
  • S. Walsh et al.

    ACTN3 genotype is associated with muscle phenotypes in women across the adult age span

    J Appl Physiol

    (2008)
  • M.J. Delmonico et al.

    Association of the ACTN3 genotype and physical functioning with age in older adults

    J Gerontol A Biol Sci Med Sci

    (2008)
  • N. Eynon et al.

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

    PLoS ONE

    (2012)
  • C. Santiago et al.

    ACTN3 genotype in professional soccer players

    Br J Sports Med

    (2008)
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