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Appears in Collections:Faculty of Health Sciences and Sport Journal Articles
Peer Review Status: Refereed
Title: Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks
Author(s): Moran, Colin Neil
Yang, Nan
Bailey, Mark E S
Tsiokanos, Athanasios
Jamurtas, Athanasios Z
MacArthur, Daniel G
North, Kathryn
Pitsiladis, Yannis P
Wilson, Richard H
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Keywords: obesity
thrifty gene
Issue Date: Jan-2007
Date Deposited: 17-May-2013
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.
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.
DOI Link: 10.1038/sj.ejhg.5201724
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