title: Association of the ACTN3 R577X polymorphism with power athlete status in Russians.
abstract: The alpha-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 alpha-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 alpha-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.
authors.affiliation: Sports Genetics Laboratory, St Petersburg Research Institute of Physical Culture, 2 Dynamo Avenue, St Petersburg, Russia. a.druzhevskaya@gmail.com
authors.forename: Anastasiya M
authors.initials: AM
authors.lastname: Druzhevskaya
authors.forename: Ildus I
authors.initials: II
authors.lastname: Ahmetov
authors.forename: Irina V
authors.initials: IV
authors.lastname: Astratenkova
authors.forename: Viktor A
authors.initials: VA
authors.lastname: Rogozkin
mesh_terms: D000185:Actinin / Q000235:genetics*; D000328:Adult; D054874:Athletic Performance; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D006720:Homozygote; D006801:Humans; D008297:Male; D009119:Muscle Contraction / Q000235:genetics*; D018482:Muscle, Skeletal / Q000502:physiology*; D010641:Phenotype; D011110:Polymorphism, Genetic; D012426:Russia
chemical_list: C118456:ACTN3 protein, human; D000185:Actinin