ASSOCIATION OF POLYMORPHISMS OF THE EPAS1 AND EGLN1 GENES WITH THE SPORTS SPECIALIZATION OF SWIMMERS

The purpose of the research was to study the association of polymorphisms rs1614148 of the EGLN1 gene and rs6756667 of the EPAS1 gene with sports specialization of swimmers.

Materials and research methods. 100 swimmers of different specializations participated in the study: 40 women (18±2,3 age) and 60 men (18,5±3,2 age). The athletes were divided into groups according to their specialization. The first group included swimmers specializing in short distances (50-100 m). The second group included swimmers specializing in 200-400 m and the third group – in 800-1500 m. DNA was isolated from buccal epithelial cells. Samples were genotyped in real-time PCR.

Research results. The frequency of GG genotype (EPAS1) was found to be statistically significantly lower in long-distance swimmers compared to sprinters (χ2=2.74, OR=0.29 (95%CI 0.08-1.05), p=0.04) and middle distance swimmers (χ2=2.97, OR=0.28 (95%CI 0.08-1.00), p=0.04). In stair swimmers, the proportion of individuals with the A allele (EPAS1) in their genotype was 43.75%, which was statistically significantly higher compared to the frequency in sprinters (27.5%) (χ2=3.39, OR=0.46 (95%CI 0.20-1.06), p=0.03). The analysis of the frequency of alleles and genotypes of the rs1614148 polymorphism of the EGLN1 gene did not reveal statistically significant differences in swimmers depending on their sport specialization.

Conclusion. The association of rs6756667 polymorphism of the EPAS1 gene with the sport specialization of swimmers has been established. The frequency of rs675666667*A allele prevails in swimmers specializing in 800-1500 m distances, which may indicate its potential role in sports selection.

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