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Eur J Hum Genet. 2007 Jan;15(1):88-93. Epub 2006 Oct 11.

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

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  • 1Institute of Diet, Exercise and Lifestyle (IDEAL) and Division of Molecular Genetics, Faculty of Biomedical & Life Sciences, University of Glasgow, Glasgow, UK.

Abstract

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.

PMID:
17033684
[PubMed - indexed for MEDLINE]
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