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目的:探讨武汉地区汉族人群中胆固醇转运蛋白(CETP)基因A(-2601)G位点多态性与动脉粥样硬化(AS)的相关性分析。方法:应用聚合酶链反应和Realtime-PCR等技术检测159例AS患者及167例正常对照CETP基因A(-2601)G多态性及其mRNA表达水平,并测定相关生化指标,综合分析基因频率、等位基因频率分布及不同基因型与临床资料、生化指标的关系。结果:与正常对照组相比,AS组CETP基因A(-2601)G其基因型和等位基因A G分布频率均有显著性差异;AS组中,AA基因型携带者其血清中HDL-C含量显著高于其余两种基因型携带者;与正常对照组相比,AS患者其CETP mRNA水平明显升高。结论:CETP基因A(-2601)G位点的多态性与武汉地区汉族人群中动脉粥样硬化的发生存在一定的关联性,其机制可能是通过上调CETP的表达来降低血清中HDL-C含量。
Objective: To investigate the association between A (-2601) G polymorphism of cholesterol transporter (CETP) gene and atherosclerosis (AS) in Han population in Wuhan. Methods: Polymerase chain reaction and Realtime-PCR were used to detect the polymorphism of CETP gene A (-2601) G and its mRNA expression in 159 patients with AS and 167 normal controls. The biochemical parameters were determined and the gene frequencies , Allele frequency distribution and different genotypes with clinical data, biochemical indicators. Results: Compared with the normal control group, the genotype and allele AG distribution frequency of CETP gene A (-2601) G in AS group were significantly different. In AS group, the serum HDL-C Content was significantly higher than the other two genotype carriers; Compared with the normal control group, AS patients with CETP mRNA levels were significantly higher. CONCLUSION: Polymorphism of A (-2601) G site in CETP gene is associated with the occurrence of atherosclerosis in Han population in Wuhan area. The possible mechanism is that the increase of CETP expression may decrease the level of HDL-C content.