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目的分析胆固醇酯转运蛋白(CETP)基因TaqⅠB多态性与蒙古族人群原发性高血压(EH)的关系。方法从内蒙古自治区通辽市蒙古族健康体检人群随机抽取1 819例进行病例-对照研究,其中高血压组840例,正常血压组979例。用多聚酶链式反应/限制性片段长度多态性(PCR-RFLP)及直接测序方法鉴定CETP基因的TaqⅠB多态性位点基因型。结果 TaqⅠB位点GG、GA、AA基因型和G/A等位基因频率分布在整个人群、男性组和女性组中均符合Hardy-Weinberg遗传平衡。无论在整体人群还是按性别分组的亚群中,原发性高血压组CETP基因TaqⅠB位点GG、GA、AA基因型和G/A等位基因频率分布和对照组无差异。在男性组中,与携带CETP基因TaqⅠB位点GG基因型的个体相比,AA型个体的高密度脂蛋白胆固醇水平显著升高,总胆固醇和三酰甘油水平显著降低(P<0.05)。结论 CETP基因TaqⅠB多态性不是原发性高血压的直接危险因素,但可影响血脂水平,可能间接参与原发性高血压的发生。
Objective To analyze the association of cholesterol ester transfer protein (CETP) Taq Ⅰ B polymorphism with essential hypertension (EH) in Mongolian population. Methods A total of 1 819 cases of Mongolian healthy people from Tongliao City, Inner Mongolia Autonomous Region were enrolled in the case-control study. Among them, there were 840 cases of hypertension and 979 cases of normal blood pressure. The genotypes of TaqⅠB polymorphism of CETP gene were identified by polymerase chain reaction / restriction fragment length polymorphism (PCR-RFLP) and direct sequencing. Results The frequency distribution of GG, GA, AA genotypes and G / A alleles in TaqⅠB locus was in the whole population. The Hardy-Weinberg genetic balance was found in both male and female groups. The frequency distribution of GG, GA, AA genotypes and G / A alleles of CETP gene TaqⅠB in patients with essential hypertension was not different from that of control subjects in both the whole population and the sex groups. In the male group, individuals with AA genotype had significantly higher HDL-C levels and significantly lower total and triacylglycerol levels (P <0.05) compared with individuals carrying the GG genotype at the TaqIB site of CETP. Conclusion The TaqⅠB polymorphism of CETP gene is not a direct risk factor of essential hypertension, but it may affect blood lipid level and may indirectly participate in the occurrence of essential hypertension.