GABABR2 基因多态性与维吾尔族人高血压的关系

目的探讨G蛋白家族GABABR2 基因rs3750344 和rs1435252 位点的多态性是否是维吾尔族人高血压的遗传易感因素。方法采集新疆维吾尔族人标本785 例，测量代谢性表型及血压等暴露指标。用Taqman 基因分型平台进行rs3750344 与rs1435252 基因分型，用Haploview 软件进行连锁不平衡分析和单倍型分析。结果rs1435252 基因型高血压组(GG 43.0%、GA 43.6%、AA 13.5%)与正常对照组(GG 44.8%、GA 47.6%、AA 7.6%)有显著性差异(P<0.05)；A等位基因携带者发生高血压的风险增高(OR=1.38, 95%CI: 1.08~1.76)，调整性别、年龄后显著性仍然存在(P<0.05)。rs3750344 基因型高血压组(TT 71.4%、TC 25.2%、CC 3.5%)与正常对照组(TT 68.5%、TC 29.6%、CC 1.9%)无显著性差异(P=0.204)。结论GABABR2 基因rs1435252 多态性A等位基因可能是维吾尔族人群发生高血压的易感因子。

Relationship of Polymorphism of GABABR2 Gene with Hypertension in Uygur of Xinjiang

Objective To investigate the association of the polymorphism of rs3750344 and rs1435252 of G-protein family GABABR2 gene with hypertension in population of Xinjiang Uygur. Methods 785 Uygur subjects were surveyed with the cardiovascular phenotypes.Tagging single nucleotide polymorphisms (tSNPs) of rs3750344 and rs1435252 of GABABR2 gene were typed with Taqman. Linkage disequilibrium and haplotype were analysed with Haploview software. Results The frequency of rs1435252 was significantly different (P<0.05) between hypertension group (GG 43.0%, GA 43.6%, AA 13.5%) and normal control group (GG 44.8%, GA 47.6%, AA 7.6%). The subjects with GA/AA genotype significantly increased risk of hypertension (OR=1.38, 95%CI: 1.08~1.76). The associations remained significant after control for age and gender (P<0.05). The frequency of rs3750344 was not significantly different (P=0.204), as TT 71.4%, TC 25.2%, CC 3.5% in the hypertension group, and TT 68.5%, TC 29.6%, CC 1.9% in the normal control group. Conclusion The rs1435252 polymorphism A allele of GABABR2 gene is a risk factor for hypertension in the Uyghur population.