Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks

Eur J Hum Genet. 2007 Jan;15(1):88-93. doi: 10.1038/sj.ejhg.5201724. Epub 2006 Oct 11.


The functional allele (577R) of ACTN3, which encodes human alpha-actinin-3, has been reported to be associated with elite athletic status and with response to resistance training, while the nonfunctional allele (577X) has been proposed as a candidate metabolically thrifty allele. In a study of 992 adolescent Greeks, we show that there is a significant association (P=0.003) between the ACTN3 R577X polymorphism and 40 m sprint time in males that accounts for 2.3% of phenotypic variance, with the 577R allele contributing to faster times in an additive manner. The R577X polymorphism is not associated with other power phenotypes related to 40 m sprint, nor with an endurance phenotype. Furthermore, the polymorphism is not associated with obesity-related phenotypes in our population, suggesting that the 577X allele is not a thrifty allele, and thus the persistence of this null allele must be explained in other terms.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actinin / genetics*
  • Adolescent
  • Body Composition / genetics*
  • Codon, Nonsense
  • Female
  • Greece
  • Humans
  • Male
  • Phenotype
  • Physical Endurance / genetics*
  • Polymorphism, Genetic*
  • Running*


  • ACTN3 protein, human
  • Codon, Nonsense
  • Actinin