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

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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%; < 0.0001) and X allele (33.3 vs. 38.7%; = 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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Correspondence to Anastasiya M. Druzhevskaya.

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Druzhevskaya, A.M., Ahmetov, I.I., Astratenkova, I.V. et al. Association of the ACTN3 R577X polymorphism with power athlete status in Russians. Eur J Appl Physiol 103, 631–634 (2008). https://doi.org/10.1007/s00421-008-0763-1

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  • DOI: https://doi.org/10.1007/s00421-008-0763-1

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