The adaptation of an athlete to systematic physical exercise has been shown to be determined by a combination of great many genes. The aim of our study was to investigate the dependence of the aerobic capacity parameters in sport on the set of gene polymorphisms. Cardio-respiratory system (CRS) adaptation reactions to exercise of 72 endurance athletes were assessed using the gas analysis. The analysis of the obtained results has shown both single and combined effect of the gene polymorphisms on the aerobic capacity. The impact of 6 polymorphisms on the aerobic performance level was analyzed: Т–786→С polymorphism of the promoter of еNOS gene as well as АСЕ I/D polymorphism, Рго/Ala polymorphism of PPARG gene, G/C polymorphism of PPARA gene, Pro582Ser polymorphism of HIF1α gene, and Ala203Pro polymorphism of PPARGC1B. It was found that a single impact on the HRmax providing АСЕ I/D polymorphism. Individual influence of АСЕ gene accounts for 2% of this index dissipation. Results showed that there is a dependence between the amount the maximum volume of consumed oxygen (VO2max) from the set of gene polymorphisms. Cumulative impact of these polymorphisms in the combination with the individual parameters (gender; qualification; kind of sport) stipulates 71% of dispersion of VO2max value.
Investigation of the mechanisms of phenotypic realization of allelic polymorphism of the eNOS gene has shown that the level of eNOS mRNA and activity of this enzyme in platelets depends from genotype. We identified a T-786→C polymorphism in the promoter region, a variable number of tandem repeats (4a/4b) in intron 4 and the G894→T polymorphism in exon 7 of the eNOS gene in isolated human platelets. We measured eNOS mRNA in isolated platelets by reverse transcription-PCR and eNOS enzyme activity by fluorimetric detection system FCANOS-1 using diaminofluorescein diacetate (DAF-2A). It was shown that the level of eNOS mRNA is the lowest for the -786C/C promoter genotype. In exon 7 homozygotes (894T/T) the level of RNA is lower than in normal homozygotes (894G/G), but higher than in heterozygotes (894G/T). The eNOS activity in platelets is lower in carriers of the 786C/C promoter genotype than in normal homozygotes (2.1 × P=0.03), and lower comparing to heterozygotes (2.9 × P>0.05). The eNOS activity accompanying the 894T/T variant of exon 7 is also lower than in normal homozygotes (P>0.05). Regarding the polymorphism in intron 4 - the enzyme's activity is lower in carriers of the 4a/4a genotype comparing to normal homozygotes (1.7 × P>0.05) and lower than in heterozygotes (1.9 × P>0.05). These results allow one to conclude that the T-786→C polymorphism of the eNOS gene promoter most significantly affects the gene expression and eNOS activity.
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