Association of single nucleotide poly morphisms of GLUT 1 gene with hypoxia adaptation in high altitude in Sherpas
AIM: To investigate the association of single nucleo-tide polymorphisms (SNPs) of glucose transport 1 (GLUT1) gene with hypoxia adaptation in high altitude in Sherpas. METHODS: The SNPs of + 22999 (G→T) and -2841 (A→T) of GLUT1 gene were examined by restriction fragment length polymorphism poly-merase chain reaction (RFLP-PCR) in 104 Sherpas and 90 Han nationality healthy subjects. RESULTS: The genotype frequency of GLUT1 gene +22999 (G→T) in Sherpas and Han nationality was 48. 0% versus 66. 7% in G/Ggenotype, 41. 3% versus 31.1% in G/T genotype and 10.7% versus 2.2% in T/T genotype, with significant difference between the two groups ( P = 0.009). At +22999, mutant genotype(G/T + T/T) as exposure, the total frequency of G/T + T/T in Sherpas was higher than that in Han nationality and the OR mutant genotype versus wild was 2.16 (95% CI = 1.206-3.870). No significant difference was observed in genotype and allele frequency of -2841 ( A→ T) between the two groups (P >0.05). CONCLUSION: Polymorphisms of GLUT1 gene +22999 (G→T) are associated with hypoxia adaptation in high altitude in Sherpas. G/T and T/T genotype may be beneficial to hypoxia adaptation and further study is needed for its mechanism.
GLUT 1polymorphismsingle nucleotidealtitudeanuxiapolymerase chain reactionpolymorphismrestriction fragment length
NETL
NSTL
万方数据
维普
