CYP11B2基因多态性与汉族、蒙古族原发性高血压的关系

Relationship between CYP11B2 polymorphism and essential hypertension in Han and Mongolian popu-lation

目的:研究醛固酮合成酶的CYP11B2基因多态性与蒙古族、汉族原发性高血压(EH)的关系,探索其在蒙古族、汉族EH患者中的作用.方法:纳入蒙古族高血压患者200例(蒙古族EH组),血压正常者211例(蒙古族正常对照组);汉族高血压患者197例(汉族EH组),血压正常者209例(汉族正常对照组).检测比较EH组和正常对照组的一般资料,分析两个民族CYP11B2单核苷酸多态性位点(tagSNP)基因型和等位基因频率分布,并进行tagSNP单倍型分析.结果:在汉族和蒙古族研究对象中,与正常对照组比较,EH组年龄、收缩压、舒张压、人体质量指数、总胆固醇、甘油三酯和低密度脂蛋白胆固醇水平均显著升高,P<0.05或<0.01.选择了CYP11B2基因的三个tagSNP(rs3802230、rs6433、rs11781082);无论是汉族还是蒙古族,这三个tagSNP的基因型和等位基因频率分布在EH组和正常对照组之间均无显著差异,P均>0.05.这三个tagSNP共构成4个单倍型(AAG、CAG、CGA、CGG);无论是汉族还是蒙古族,这四个单倍型比例在EH组和正常对照组之间均无显著差异,P均>0.05.结论:EH组年龄、血压、BMI、血脂(除HDL-C)水平显著高于正常血压者.CYP11B2基因多态性与汉族、蒙古族EH无显著关系.

Objective:To study relationship between CYP11B2 polymorphism of aldosterone synthase and essential hypertension(EH) in Han and Mongolian population, and explore its role in Han and Mongolian EH patients. Methods: A total of 200 Mongolian EH patients were enrolled as Mongolian EH group, and 211 Mongolian normotensive people were enrolled as Mongolian normal control group;197 Han EH patients were enrolled as Han EH group, and 209 Han normotensive people were enrolled as Han normal control group. General data were measured and compared between EH group and normal control group;CYP11B2 single nucleotide polymorphism site(tagSNP) genotype and allele frequency distribution were analyzed in two nationalities, and tagSNP haplotype was analyzed.Results:In Han and Mongolian subjects, compared with normal control group, there were significant rise in age, levels of systolic blood pressure, diastolic blood pressure, body mass index, total cholesterol, triglyceride and low density lipoprotein cholesterol in EH group, P<0.05 or <0.01. A total of three tagSNPs(rs3802230, rs6433, rs11781082) of CYP11B2 were selected;no matter Han or Mongolian, there were no significant difference in genotype and allele frequency distribution of these three tagSNPs between EH group and normal control group, P>0.05 all. These three tagSNPs constituted four halotypes, namely AAG, CAG, CGA and CGG;no matter Han or Mongolian, there were no significant difference in percentages of four halotypes between EH group and normal control group, P>0.05 all. Conclusion:Age, blood pressure, BMI, blood lipids(except HDL-C) in EH group are significantly higher than those of normotensive subjects. There is no significant relationship between CYP11B2 polymorphism and EH in Han and Mongolian people.