Details

Autor(en) / Beteiligte

• MORAN, Colin N
• NAN YANG
• BAILEY, Mark E. S
• TSIOKANOS, Athanasios
• JAMURTAS, Athanasios
• MACARTHUR, Daniel G
• NORTH, Kathryn
• PITSILADIS, Yannis P
• WILSON, Richard H

Titel

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

Ist Teil von

• European journal of human genetics : EJHG, 2007-01, Vol.15 (1), p.88-93

Ort / Verlag

Avenel, NJ: Nature Publishing

Erscheinungsjahr

2007

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.