ACTN3 Polymorphism: Comparison Between Elite Swimmers and Runners.

ABSTRACT:

Background

The human ACTN3 gene encodes α-actinin-3, an actin-binding protein with a pivotal role in muscle structure and metabolism. A common genetic single nucleotide polymorphism (SNP) at codon 577 of the ACTN3 results in the replacement of an arginine (R) with a stop codon (X). The R allele is a normal functional version of the gene, whereas the X allele contains a sequence change that completely stops production of functional α-actinin-3 protein. The ACTN3 R577X polymorphism was found to be associated with power athletic performance especially among track and field athletes. The aim of the current study was to compare allelic and genotype frequencies of the ACTN3 R577X polymorphism among runners and swimmers specializing in different distances, and >non-at

SUBMITTER: Ben-Zaken S 

PROVIDER: S-EPMC4532721 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature