title: Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks.
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.
authors.affiliation: Institute of Diet, Exercise and Lifestyle (IDEAL) and Division of Molecular Genetics, Faculty of Biomedical & Life Sciences, University of Glasgow, Glasgow, UK.
authors.forename: Colin N
authors.initials: CN
authors.lastname: Moran
authors.forename: Nan
authors.initials: N
authors.lastname: Yang
authors.forename: Mark E S
authors.initials: ME
authors.lastname: Bailey
authors.forename: Athanasios
authors.initials: A
authors.lastname: Tsiokanos
authors.forename: Athanasios
authors.initials: A
authors.lastname: Jamurtas
authors.forename: Daniel G
authors.initials: DG
authors.lastname: MacArthur
authors.forename: Kathryn
authors.initials: K
authors.lastname: North
authors.forename: Yannis P
authors.initials: YP
authors.lastname: Pitsiladis
authors.forename: Richard H
authors.initials: RH
authors.lastname: Wilson
mesh_terms: D000185:Actinin / Q000235:genetics*; D000293:Adolescent; D001823:Body Composition / Q000235:genetics*; D018389:Codon, Nonsense; D005260:Female; D006115:Greece; D006801:Humans; D008297:Male; D010641:Phenotype; D010807:Physical Endurance / Q000235:genetics*; D011110:Polymorphism, Genetic; D012420:Running
chemical_list: C118456:ACTN3 protein, human; D018389:Codon, Nonsense; D000185:Actinin