Exercise phenotypes have played a key role for ensuring survival over human evolution. We speculated that some genetic variants that influence exercise phenotypes could be associated with exceptional survival (i.e. reaching ≥100 years of age). Owing to its effects on muscle structure/function, a potential candidate is the Arg(R)577Ter(X) polymorphism (rs1815739) in ACTN3, the structural gene en...

ABSTRACT We aimed to investigate the influence of alpha-actinin-3 (ACTN3) R577X polymorphism on responsiveness post-activation performance enhancement (PAPE) countermovement jumps (CMJ) in untrained subjects. Sixteen men were allocated into two groups according their ACTN3 gene alleles: homozygous for X allele (XX, n = 9) or R (RR, 7). CMJ height, mean power output and vertical force determined...

We aimed to quantify the ACE I/D and ACTN3 R577X (rs1815739) genetic variants in elite rugby athletes (rugby union and league) and compare genotype frequencies to controls and between playing positions. The rugby athlete cohort consisted of 507 Caucasian men, including 431 rugby union athletes that for some analyses were divided into backs and forwards and into specific positional groups: front...

27 We aimed to quantify the ACE I/D and ACTN3 R577X (rs1815739) genetic variants in elite rugby 28 athletes (rugby union and league), compare genotype frequencies to controls and between 29 playing positions. The rugby athlete cohort consisted of 507 Caucasian men, including 431 rugby 30 union athletes that for some analyses were divided into backs and forwards and into specific 31 positional g...

A common nonsense polymorphism in the ACTN3 gene results in the absence of α-actinin-3 in XX individuals. The wild type allele has been associated with power athlete status and an increased force output in numeral studies, though the mechanisms by which these effects occur are unclear. Recent findings in the Actn3(-/-) (KO) mouse suggest a shift towards 'slow' metabolic and contractile characte...

The ability to obtain accurate and reproducible data using quantitative real-time Polymerase Chain Reaction (RT-qPCR) is limited by the process of data normalization. The use of 'housekeeping' or 'reference' genes is the most common technique used to normalize RT-qPCR data. However, commonly used reference genes are often poorly validated and may change as a result of genetic background, enviro...

The ACTN3 R577X (rs1815739) genotype has been associated with athletic status and muscle phenotypes, although not consistently. Our objective was to conduct a meta-analysis of the published literature on athletic status and investigate its associations with physical capability in several new population-based studies. Relevant data were extracted from studies in the literature, comparing genotyp...