A common polymorphism (R577X) in the a-actinin (ACTN) 3 gene, which leads to complete deficiency of a functional protein in skeletal muscle, could directly influence metabolism in the context of health and disease. Therefore, we tested the hypothesis that states of glucose tolerance are associated with the ACTN3 R577X genotype. We analyzed the prevalence of the ACTN3 R577X polymorphism in peopl...

BACKGROUND Genetic polymorphism is suggested to be associated with human physical performance. The angiotensin I-converting enzyme insertion/deletion (ACE I/D) polymorphism and the α-actinin-3 gene (ACTN3) R577X polymorphism have been most widely studied for such association analysis. However, the findings are frequently heterogeneous. We aim to summarize the associations of ACE I/D and ACTN3 R...

PURPOSE The aim of this study is to examine the association between the distribution of ACTN3 genotypes and alleles in power, speed, and strength-oriented athletics. METHODS ACTN3 genotyping was carried out for a total of 975 Korean participants: top-level sprinters (n = 58), top-level strength athletes (n = 63), and healthy controls (n = 854). RESULTS Genetic associations were evaluated by...

PURPOSE To examine the relationship between ACTN3 polymorphisms and level of athletic performance in Japanese wrestlers. METHODS The control group consisted of 243 healthy Japanese individuals. The authors divided 135 wrestlers into 3 groups based on their results in national or international competitions. They classified as elite 24 wrestlers who had placed in the top 8 in a world championsh...

The authors compared ACTN3 R577X genotype and allele frequencies in the majority of all-time-best Spanish judo male athletes (n = 108) and 343 ethnically matched nonathletic men. No between-groups differences were found in allele (P = .077) or genotype distributions (P = .178). Thus, the R577X polymorphism was not significantly associated with the status of being an elite judo athlete, at least...

The alpha-actinins are a multigene family of four actin-binding proteins related to dystrophin. The two skeletal muscle isoforms of alpha-actinin (ACTN2 and ACTN3) are major structural components of the Z-line involved in anchoring the actin-containing thin filaments. In humans, ACTN2 is expressed in all muscle fibres, while ACTN3 expression is restricted to a subset of type 2 fibres. We have r...

Background 3 a-actin (a-ACTN3) isoform is characteristic of fast fibers, expressed only in type II fibers, which plays structural and regulatory functions in cytoskeletal organization and muscle contraction. Stabilizes sarcomeres during fast and forceful contraction of muscle fibers used during sports activities that require explosion, such as race. Gene polymorphism was identified in the a-cal...

BACKGROUND The ACTN3 gene may influence performance in team sports, in which sprint action and high-speed movements, regulated by the anaerobic energy system, are crucial to the ultimate success of a match. The aim of this study was to determine the association between the ACTN3 R577X (rs1815739) polymorphism and elite team sport athletic status in Italian male athletes. METHODS We compared t...

This study analyzed the differences in aerobic and anaerobic exercise ability and growth-related indicators, depending on the polymorphism of the ACE and the ACTN3 genes, to understand the genetic influence of exercise ability in the growth process of children. The subjects of the study consisted of elementary school students (n=856, age 10.32±0.07 yr). The anthropometric parameters, physical f...

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 comp...