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

AM Druzhevskaya, II Ahmetov, IV Astratenkova… - European journal of …, 2008 - Springer
AM Druzhevskaya, II Ahmetov, IV Astratenkova, VA Rogozkin
European journal of applied physiology, 2008Springer
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 …
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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