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

https://arctichealth.org/en/permalink/ahliterature157238
Source
Eur J Appl Physiol. 2008 Aug;103(6):631-4
Publication Type
Article
Date
Aug-2008
Author
Anastasiya M Druzhevskaya
Ildus I Ahmetov
Irina V Astratenkova
Viktor A Rogozkin
Author Affiliation
Sports Genetics Laboratory, St Petersburg Research Institute of Physical Culture, 2 Dynamo Avenue, St Petersburg, Russia. a.druzhevskaya@gmail.com
Source
Eur J Appl Physiol. 2008 Aug;103(6):631-4
Date
Aug-2008
Language
English
Publication Type
Article
Keywords
Actinin - genetics
Adult
Athletic Performance
Case-Control Studies
Female
Gene Frequency
Homozygote
Humans
Male
Muscle Contraction - genetics
Muscle, Skeletal - physiology
Phenotype
Polymorphism, Genetic
Russia
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
PubMed ID
18470530 View in PubMed
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