EPAS1 gene rs6756667 polymorphism and aerobic exercise capacity of Tibetan athletes / 中国组织工程研究

ABSTRACT

BACKGROUND:Emerging evidence shows that rs6756667 SNP EPAS1-A alele is beneficial for, however, the GG genotype is detrimental for adaptation to high-altitude hypoxia in Tibetan populations. OBJECTIVE:To compare the EPAS1 gene rs6756667 polymorphism between Tibetan elite endurance athletes and Tibetan non-physical education major students and analyze its relationship to aerobic exercise capacity. METHODS:Forty Tibetan athletes in Ganzi Tibetan middle and long distance athletes sports teams (athlete group) and forty Tibetan non-physical education major students in Ganzi (student group) were included in this study. The EPAS1 gene rs6756667 polymorphic loci were determined using PCR high-resolution melting analysis. The genetic polymorphism data from this study were compared withthe data from previous studies. Increase values of bone mineral density in the pelvis, upper and lower limbs were determined by dual-energy X-ray absorptiometry. RESULTS AND CONCLUSION:There were significant differences in the genotype frequencies of EPAS1 rs6756667 AA, AG and GG between student group(50%, 47.5%, 2.5%)and athlete group(72.5%, 27.5%, 0;P< 0.05). The genotype frequency of GG was significantly increased in student group compared with athlete group (P< 0.05). There were differences in the frequencies of A alele and G alele between both groups (95%CI:0.459-0.908,P=0.011).Bone mineral density inthe pelvis, upper and lower limbs and whole body was significantly higher in student group than athlete group (P< 0.05). These findings suggest that EPAS1 gene rs6756667 polymorphism is related to aerobic capacity of Tibetan elite endurance athletes. rs6756667 SNP EPAS1-A alele is beneficial for, however, the GG genotype is detrimental for adaptation to high-altitude hypoxia in Tibetan athletes.