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

CN Moran, N Yang, MES Bailey, A Tsiokanos… - European Journal of …, 2007 - nature.com
European Journal of Human Genetics, 2007nature.com
The functional allele (577R) of ACTN3, which encodes human α-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 …
Abstract
The functional allele (577R) of ACTN3, which encodes human α-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.
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