青海地区汉族和藏族人群HIF-1α基因rs11549465多态性与慢性高原病的关系

Relationship between HIF-1α gene rs11549465 polymorphism and chronic mountain sickness in Qinghai Hans and Tibetans

目的探讨青海地区汉族、藏族人群缺氧诱导因子1α(HIF-1α)基因rs11549465位点多态性与慢性高原病(chronic mountain sickness,CMS)的关系。方法选择2011年1月—2014年6月确诊的CMS男性患者159例为病例组(汉族90例,藏族69例),选择同期体检的健康男性230例为对照组(汉族120例,藏族110例)。采用基因测序方法检测HIF-1α基因rs11549465位点的多态性。结果汉、藏族人群均检出CC、CT两种基因型,未见TT基因型。无论是病例组还是对照组,藏族人群CT基因型及T等位基因频率均高于汉族人群,差异有统计学意义(P<0.05)。汉族人群与藏族人群中,病例组与对照组各基因型及等位基因频率间比较,差异均无统计学意义(P>0.05)。结论 HIF-1α基因rs11549465位点CT基因型及T等位基因可能是青海地区藏族人群低氧适应的遗传学变异,HIF-1α基因rs11549465位点基因多态性与青海汉族、藏族人群CMS易感性无关。

Objective To explore the relationship between the single nucleotide polymorphism（SNP） rs11549465 of hypoxia inducible factor-1alpha（HIF-1α） gene and chronic mountain sickness（CMS） in Qinghai Hans and Tibetans. Methods Gene sequencing method was carried out to analyze the rs11549465 SNP polymorphism,including 90 CMS patients and 120 healthy individuals in Han population,69 CMS patients and 110 healthy individuals in Tibetan population. The genotype and allele frequencies were calculated and analyzed. Results CT and CC genotypes were identified in Han and Tibetan populations.Genotype TT was not found in this study. The CT genotype and the T allele frequencies in Tibetan population were higher than that in Han population in patient group and in control group（P〈0.05）. The distributions of the genotype and allele frequencies showed no significant difference between patient group and control group both in Hans and in Tibetans（P〉0.05）. Conclusion The CT genotype and the T allele of HIF-1α rs11549465 may be involved in the hypoxic acclimation of high altitude in Qinghai Tibetans. HIF-1α gene rs11549465 polymorphisms have no relationship with CMS in Qinghai Hans and Tibetans.