北方汉族人群醛固酮合成酶基因多态性与高血压的关系

目的 探讨北方汉族人群醛固酮合成酶基因（CYP11B2）启动子区C-344T和第三外显子K173R多态性位点与原发性高血压的关系。方法在哈尔滨报社人群中分别选取182例原发性高血压患者和189例正常对照者进行病例．对照研究,采用多聚酶链式反应／限制性片段长度多态性（PCR—RFLP）及直接测序技术检测C-344T和K173R的基因型。结果各位点基因型分布在男性和女性组中均符合Hardy—Weinberg遗传平衡定律。C-344T位点的基因型和等位基因频率以及K173R的等位基因频率在整个群体和按性别分组后亚群体的分布在高血压组和对照组间差异均没有显著性（P≥0．05）。而K173R位点的基因型频率在整个群体中具有边缘统计学意义（P=0．0500）,且在女性组中更为明显（P=0．0038）,并以显性方式遗传,这种遗传方式在对混杂因素进行校正后更加明显。同时K173R与女性的收缩压显著相关。结论 在北方汉族人群中,CYP11B2K173R多态性位点与女性高血压的易感相关联。

Relationship between aldosterone synthase gene (CYP11B2) polymorphisms and essential hypertension in a northern Chinese Han population

OBJECTIVE: To explore the relationship between genetic polymorphisms of C-344T in the promoter region and K173R in the exon 3 of aldosterone synthase gene (CYP11B2) and the incidence of essential hypertension in a northern Chinese Han population. METHODS: We conducted a case-control study including 182 hypertensive patients and 189 healthy controls in Harbin newspaper office and assayed the genotypes of C-344T and K173R using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing technology. RESULTS: The distributions of C-344T and K173R genotype frequencies in men and women were in accordance with the Hardy-Weinberg equilibrium. The differences of C-344T allele and genotype as well as K173R allele frequency distributions between hypertensive patients and healthy controls were not statistically significant in men and women and pooled population (P > or = 0.05). The difference of K173R genotype frequency distribution reached borderline significance (P = 0.0500) and was more pronounced in women (P = 0.0038) according to the dominant mode of inheritance. Moreover, the magnitude of this mode of inheritance was more remarkable after the confounding factors were adjusted. K173R statistically correlated with the systolic hypertension in women. CONCLUSION: The CYP11B2 K173R polymorphism correlates with the susceptibility of essential hypertension in the northern Chinese Han population.