Abstract
ACTN3 encodes the protein α-actinin-3, which affects the muscle phenotype. In the present study, we examined the association of ACTN3 R577X polymorphism with body somatotype and cardiorespiratory fitness in young, healthy adults. The study group included 304 young adults, in whom cardiorespiratory fitness was evaluated and the maximum oxygen uptake was determined directly. The somatotype components were calculated according to the Heath-Carter method. Genotyping for the ACTN3 gene was performed using a polymerase chain reaction followed by high-resolution melting analysis. In the female group, a lower maximal heart rate (HRmax) was more strongly associated with the RR genotype (p = 0.0216) than with the RX and XX genotypes. In the male group, the ACTN3 RX genotype, as compared with other genotypes, tended to be associated with a lower percentage of adipose tissue (p = 0.0683), as also reflected by the body mass index (p = 0.0816). ACTN3 gene polymorphism may affect cardiorespiratory fitness. Our analysis of ACTN3 gene polymorphism does not clearly illustrate the relationships among genotype, body composition, and somatotype in young, healthy adults.
Highlights
Over the past several decades, research has focused on the influence of genes on physical fitness.Genes affecting health-related fitness can be divided into groups that are responsible for muscle energy efficiency, muscle endurance, cardiorespiratory fitness, susceptibility to injury, and psychological conditions
The aim of this study was to investigate the association between ACTN3 gene polymorphism and body composition, somatotypes, and cardiorespiratory fitness in young, healthy adults
A total of 304 young, healthy adults were genotyped for the distribution of R577X alleles
Summary
Genes affecting health-related fitness can be divided into groups that are responsible for muscle energy efficiency, muscle endurance, cardiorespiratory fitness, susceptibility to injury, and psychological conditions. This categorization led to the identification of numerous genes that may aid in differentiating between elite and non-elite athletes. ACTN3 gene expression is limited to skeletal muscle. It is located in the Z-disc and analogous dense bodies, where it aids in anchoring the myofibrillar actin filaments [3]. The α-actinin-3 protein is present only in type II fibres, which contract most rapidly during short, high-intensity activities such as sprinting [5]
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