GLUT1基因单核苷酸多态性与夏尔巴人群高原低氧适应的关系

Association of single nucleotide polymorphisms of GLUT1 gene with hypoxia adaptation in high altitude in Sherpas

目的:探讨夏尔巴人群葡萄糖转运体1(GLUT1)基因单核苷酸多态性(SNPs)与高原低氧适应性的关系.方法:用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测104例夏尔巴人及90名汉族对照个体GLUT1+22999(G→T),-2841(A→T)单核苷酸多态性,分析其特征.结果:夏尔巴人在+22999位点G/G,G/T,T/T3种基因型构成分别为48.0%,41.3%和10.7%,而平原汉族对照组为66.7%,31.1%和2.2%,两组间差异有统计学意义(P=0.009).在+22999位点,以变异基因型(G/T+T/T)作为暴露因素,求得OR=2.16(95%CI=1.206-3.870);两组人群在GLUT1-2841位点基因型和等位基因分布无统计学差异.结论:GLUT1基因+22999(G→T)多态性与夏尔巴人高原低氧适应存在相关性,G/T,T/T基因型可能对低氧适应有利,具体机制值得进一步探讨.

AIM： To investigate the association of single nucleotide 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 polymerase 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： Poly- morphisms 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.