蒙古族高血压遗传基因多态性及其交互作用

Genetic gene polymorphisms and interactions of hypertension in Mongolian people

目的 探讨蒙古族人肾素-血管紧张素（RAS）系统的血管紧张素原（AGT）、血管紧张素转换酶（ACE）和血管紧张索Ⅱ1型受体（AT1R）基因多态性及其交互作用与高血压的关系。方法 在现况研究基础上，分别选择299例高血压患者和281名血压正常者进行病例对照研究。现场进行问卷调查并采集空腹静脉血；应用片段长度多态性PCR（PCR／RFLP）和单链构像多态性PCR（PCR／SSCP）方法检测基因多态性。结果 RAS系统6个位点的基因型或等位基因在病例组和对照组中频率分布的差异均无统计学意义（P〉0．05），仅男性组ACE基因I／D多态性的2组差异有统计学意义（P〈0．05）。ID＋DD基因型患高血压的危险是Ⅱ基因型的2．20倍（1．21～4．02）。交互作用分析发现。同时携带有ACE基因ID或DD基因型和AGT基因M235TMT或TT基因型者患高血压的危险性较高。结论 ACE基因ID＋DD基因型是蒙古族男性高血压的危险因素。

Objective To explore the association between RAS system genes（AGT, ACE and AT1R） polymorphisms, genes interaction and hypertension in Mongolian people. Methods On basis of prevalence study, a case - control study with 299 hypertensives and 281 nomotensivcs was conducted. The subjects＇ general information was acquired by questionnaire, and their fast venous blood samples were collected at the same time, 6 single nucleotide polyrnorphisms of RAS system genes were genotyped by polymerase chain reaction/restriction fragment length polymorphism and polymerase chain reaction/single strand conformation polymorphism. Results There were no significant differences to be found between cases and controls for genotype frequencies or allele frecluencies of the 6 polymorphisms of RAS system, except in male group, OR value of men carried ACE ID ＋ DD genotype vs. men carried Ⅱ genotype was 2.20 （95 0,6 CI ： 1.21 - 4, 02）. Interaction analysis found that people who carried both ACE ID （or DD） and AGT M235T MT（or MM） had more risk to have hypertension. Conclusion ACE gene ID ＋ DD genotype is the risk factor of hypertension in male group.