Introduction. Human physical performance is a multifactorial trait, determined by a range of genetic and environmental factors. Every year new candidate genes are discovered and described in literature. One of the possible candidate genes is the myostatin (MSTN) gene, which is associated with the development and functioning of muscle. The aim of the study was to identify the influence of variants in the candidate genetic marker MSTN gene on the physical performance of Lithuanian elite athletes.
Participants and methods. The study involved 103 Lithuanian elite athletes (World and European championships, Olympic games participants or medallists; 44 endurance and 59 sprint/ power athletes) and 127 controls (non-athlete, healthy, unrelated Lithuanian citizens). Genomic DNA was extracted from peripheric blood leukocytes by phenolchloroform technique. The coding regions and surrounding sequences of the MSTN gene were analysed using automatized Sanger sequencing technique.
Results. The two foliowing variants were obtained: a deletion of one nucleotide in the first intron (c.373+90delA, rs11333578) and a single nucleotide polymorphism in the second exon (c.458A>G, rs1805086). MSTN variant c.373+90delA was abundant among both (athletes and controls) groups. There was a significantly higher frequency of homozygous deletion genotype (-/-) in total athlete group compared to controls (9.7% vs 0.8%, p<0.05). The frequency of deletion allele (24.8%) as well as homozygous for deletion genotype (13.6%) in endurance group was significantly higher than in controls (p<0.05). The polymorphism in the second exon of the MSTN gene (c.458A>G) and the homozygous genotype (G/G) was present only in one athlete and was not found in controls group.
Conclusions. The deietion aliele of MSTN variant c.373+90delA was identified to influence the physical performance in Lithuanian elite athletes. The first case for MSTN c.458A>G (p.K153R) polymorphism in Lithuania was described, which may be associated with athlete's physical performance.
