Association of the ACTN3 R577X polymorphism with power athlete status in Russians

Eur J Appl Physiol. 2008 Aug;103(6):631-4. doi: 10.1007/s00421-008-0763-1. Epub 2008 May 10.

Abstract

The alpha-actinin-3 (ACTN3) gene encodes a Z-disc structural protein which is found only in fast glycolytic muscle fibers. A common nonsense polymorphism in codon 577 of the ACTN3 gene (R577X) results in alpha-actinin-3 deficiency in XX homozygotes. Previous reports have shown a lower proportion of the ACTN3 XX genotype in power-oriented athletes compared to the general population. In the present study we tested whether XX genotype was under-represented in Russian power-oriented athletes. The study involved 486 Russian power-oriented athletes of regional or national competitive standard. ACTN3 genotype and allele frequencies were compared to 1,197 controls. The frequencies of the ACTN3 XX genotype (6.4 vs. 14.2%; P < 0.0001) and X allele (33.3 vs. 38.7%; P = 0.004) were significantly lower in power-oriented athletes compared to controls. Furthermore, the lowest (3.4%) frequency of the ACTN3 XX genotype was found in a group of highly elite athletes, supporting the hypothesis that the presence of alpha-actinin-3 has a beneficial effect on the function of skeletal muscle in generating forceful contractions at high velocity. In conclusion, ACTN3 R577X polymorphism was associated with power athlete status in Russians.

Publication types

  • Multicenter Study

MeSH terms

  • Actinin / genetics*
  • Adult
  • Athletic Performance
  • Case-Control Studies
  • Female
  • Gene Frequency
  • Homozygote
  • Humans
  • Male
  • Muscle Contraction / genetics*
  • Muscle, Skeletal / physiology*
  • Phenotype
  • Polymorphism, Genetic*
  • Russia

Substances

  • ACTN3 protein, human
  • Actinin