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.
journal_name
Eur J Appl Physioljournal_title
European journal of applied physiologyauthors
Druzhevskaya AM,Ahmetov II,Astratenkova IV,Rogozkin VAdoi
10.1007/s00421-008-0763-1subject
Has Abstractpub_date
2008-08-01 00:00:00pages
631-4issue
6eissn
1439-6319issn
1439-6327journal_volume
103pub_type
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journal_title:European journal of applied physiology
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journal_title:European journal of applied physiology
pub_type: 杂志文章,评审
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更新日期:2010-07-01 00:00:00
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journal_title:European journal of applied physiology
pub_type: 杂志文章,随机对照试验
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