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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