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01-08-2008 | Original Article

Association of the ACTN3 R577X polymorphism with power athlete status in Russians

Authors: Anastasiya M. Druzhevskaya, Ildus I. Ahmetov, Irina V. Astratenkova, Viktor A. Rogozkin

Published in: European Journal of Applied Physiology | Issue 6/2008

Abstract

The α-actinin-3 (ACTN3) gene encodes a Z-disc structural protein which is found only in fast glycolytic muscle fibers. A common nonsense polymorphism in codon 577 of the ACTN3 gene (R577X) results in α-actinin-3 deficiency in XX homozygotes. Previous reports have shown a lower proportion of the ACTN3 XX genotype in power-oriented athletes compared to the general population. In the present study we tested whether XX genotype was under-represented in Russian power-oriented athletes. The study involved 486 Russian power-oriented athletes of regional or national competitive standard. ACTN3 genotype and allele frequencies were compared to 1,197 controls. The frequencies of the ACTN3 XX genotype (6.4 vs. 14.2%; P < 0.0001) and X allele (33.3 vs. 38.7%; P = 0.004) were significantly lower in power-oriented athletes compared to controls. Furthermore, the lowest (3.4%) frequency of the ACTN3 XX genotype was found in a group of highly elite athletes, supporting the hypothesis that the presence of α-actinin-3 has a beneficial effect on the function of skeletal muscle in generating forceful contractions at high velocity. In conclusion, ACTN3 R577X polymorphism was associated with power athlete status in Russians.

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Title: Association of the ACTN3 R577X polymorphism with power athlete status in Russians
Authors: Anastasiya M. Druzhevskaya
Ildus I. Ahmetov
Irina V. Astratenkova
Viktor A. Rogozkin
Publication date: 01-08-2008
Publisher: Springer-Verlag
Published in: European Journal of Applied Physiology / Issue 6/2008
Print ISSN: 1439-6319
Electronic ISSN: 1439-6327
DOI: https://doi.org/10.1007/s00421-008-0763-1

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Association of the ACTN3 R577X polymorphism with power athlete status in Russians

Abstract

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