Polymorphism of genes involved in HIF-1A-induced hypoxia in mountaineers
Hypoxic tolerance of mountaineers provides an interesting subject for in vivo studies of hypoxic adaptation mechanisms activated by a shortage of oxygen. We have studies rs2070744, rs1799983 SNP-markers in NOS3 (eNOS) gene by Real-Time Polymerase Chain Reaction (PCR) method in 80 mountaineers who at least once in a lifetime reached the altitudes of above 3000 m versus the general population group. For the purposes of the statistical data analysis, we grouped the sampled mountaineers depending on the reportedly reached altitudes and diagnosed/ non-diagnosed acute altitude sickness (AAS). No significant intergroup data differences were found for the frequencies of alleles in rs1799983 and rs2070744 positions in the altitude-specific groups (under 4500 m, 4500-6000 m and above 6000 m) versus the general population group. Furthermore, no statistically significant correlations were found in the SNP-markers in NOS3 gene versus the maximal altitudes reported by the subjects. The AAS/ non-AAS group data showed correlation of the thiamine in rs2070744 position in NOS3 gene versus the AAS degree. The study data give reasons to assume that the T-allele carriers are prone to AAS with a probability rate of 61%; and the data gives us the reasons to offer a hypothesis that the T-allele in rs2070744 position may be suppressing the nitrogen oxide synthetase effects on the vessels relaxation mechanism thereby increasing the risks of AAS.