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

Druzhevskaya, AM, Ahmetov, II, Astratenkova, IV and Rogozkin, VA (2008) Association of the ACTN3 R577X polymorphism with power athlete status in Russians. European Journal of Applied Physiology, 103 (6). pp. 631-634. ISSN 1439-6319

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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.

Item Type: Article
Additional Information: This version of the article has been accepted for publication, after peer review (when applicable) and is subject to Springer Nature’s AM terms of use, but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections. The Version of Record is available online at: http://doi.org/10.1007/s00421-008-0763-1
Uncontrolled Keywords: Science & Technology; Life Sciences & Biomedicine; Physiology; Sport Sciences; alpha-actinin-3; genotype; fast-twitch fibers; power performance; NONSENSE MUTATION; ALPHA-ACTININ-3; GENOTYPE; STRENGTH; PERFORMANCE; WOMEN; Muscle, Skeletal; Humans; Actinin; Case-Control Studies; Muscle Contraction; Gene Frequency; Homozygote; Phenotype; Polymorphism, Genetic; Adult; Russia; Female; Male; Athletic Performance; Actinin; Adult; Athletic Performance; Case-Control Studies; Female; Gene Frequency; Homozygote; Humans; Male; Muscle Contraction; Muscle, Skeletal; Phenotype; Polymorphism, Genetic; Russia; 1106 Human Movement and Sports Sciences; Sport Sciences
Subjects: R Medicine > RC Internal medicine
Divisions: Sport & Exercise Sciences
Publisher: Springer
SWORD Depositor: A Symplectic
Date Deposited: 29 Apr 2024 14:00
Last Modified: 29 Apr 2024 14:00
DOI or ID number: 10.1007/s00421-008-0763-1
URI: https://researchonline.ljmu.ac.uk/id/eprint/23063
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