糜蛋白酶基因rs1800875多态性与云南哈尼族、彝族原发性高血压的关联研究

Association study of rs1800875 polymorphism in the chymase gene and essential hypertension in Hani and Yi populations in Yunnan province

目的:探讨糜蛋白酶(CMA1)基因rs1800875多态性与云南哈尼族、彝族原发性高血压(EH)的相关性。方法:采用聚合酶链式反应-限制性片段长度多态性方法,对692例哈尼族人(EH患者和对照者各346例)和615例彝族人(EH患者:303例;对照者:312例)CMA1基因rs1800875位点的多态性进行检测,并运用遗传模型研究rs1800875多态性与EH发生的相关性。结果:CMA1基因rs1800875位点多态性分布在哈尼族和彝族人群中均符合Hardy-Weinberg平衡。哈尼族人群中,rs1800875基因型及等位基因频率在对照者和EH患者间的分布均差异无统计学意义;彝族人群中,rs1800875 G等位基因在EH患者中的频率显著高于对照者(P=0.027)。Logistic回归分析结果提示,AG和GG基因携带者的患病风险为AA基因型携带者的1.45倍(OR=1.45,95%CI1.04～2.03,P=0.030)。结论:CMA1基因rs1800875多态性与云南哈尼族人群EH的发生无关;rs1800875 G等位基因可能是云南彝族人群EH发生的危险因子。

Objective：To investigate whether the chymase（CMA1） gene rs1800875 polymorphism is associated with essential hypertension（EH） in Hani and Yi populations in Yunnan Province.Method：Based on the case-control strategy,the rs1800875 polymorphism was genotyped in Yunnan Hani（EH=346,control=346） and Yi（EH=303,control=312） populations by polymerase chain reaction-restriction fragment length polymorphism method.Result：No significant deviation from the Hardy-Weinberg equilibrium was found in rs1800875 polymorphism neither in the control group or EH group in Hani and Yi populations.There was no significant difference in the genotype and allele distribution of rs1800875 polymorphism between control and EH subjects in Hani population.However,the G allele of rs1800875 was more prevalent in EH subjects compared to the control subjects（P=0.027） in Yi population.Logistic regression analysis showed that rs1800875 AG/GG genotype carriers were more likely to be hypertension than AA homozygotes（OR=1.45,95%CI 1.04-2.03,P=0.030）.Conclusion：The CMA1 gene rs1800875 polymorphism is not associated with EH in Yunnan Hani population.The rs1800875 G allele may be a risk factor for EH in Yunnan Yi population.