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

Citation

Moran CN, Yang N, Bailey MES, Tsiokanos A, Jamurtas AZ, MacArthur DG, North K, Pitsiladis YP & Wilson RH (2007) Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. European Journal of Human Genetics, 15 (1), pp. 88-93. https://doi.org/10.1038/sj.ejhg.5201724

Abstract
The functional allele (577R) of ACTN3, which encodes human-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.

Keywords
obesity; sprinting; Caucasians; thrifty gene

Journal
European Journal of Human Genetics: Volume 15, Issue 1