胆固醇酯转运蛋白基因TaqIB多态性、D442G突变与冠心病的相关性研究

Association of the TaqIB polymorphism and D442G mutation of cholesteryl ester transfer protein gene with coronary heart disease

目的探讨中国汉族人群胆固醇酯转运蛋白(CETP)基因TaqIB多态性、D442G突变与冠心病的相关性,同时分析其与血脂水平的关系。方法采用聚合酶链反应限制性片段长度多态性(PCRPFLP)的分析方法,检测128例冠心病患者和247例对照组的CETP基因TaqIB多态性和D442G突变的基因型,应用多因素logistic回归模型分析与冠心病的相关性。结果多因素logistic回归经年龄、性别、体重指数、吸烟、高血压、糖尿病、高脂血症等因素调整后发现(1)CETP基因TaqIB多态性B1B1基因型致冠心病的危险性显著增加(OR=318,95%CI144～705);(2)CETP基因D442G突变与冠心病的危险性无显著相关性;(3)CETP基因TaqIB多态性B2B2基因型具有较高的高密度脂蛋白胆固醇水平,B1B2次之,B1B1最低,三者差异具有显著性(P<005)。结论CETP基因变异与冠心病密切相关,CETP基因可能是中国人群冠心病的遗传易感基因,CETP基因TaqIB多态性是高密度脂蛋白胆固醇水平的决定因素之一。

Objective To explore the association between cholesteryl ester transfer protein (CETP) gene TaqIB polymorphism and the D442G mutation and coronary heart disease (CHD) among Chinese Han people. Methods Samples of peripheral blood white cell were extracted from 128 patients with CHD, aged 62 9±9 6, and from 247 controls without cardiovascular diseases, aged 59 5±8 4. All of the studied persons were of Chinese Han nationality. The CETP gene TaqIB polymorphism and the D442G mutation were determined by PCR RFLP. Results After adjustment for age, gender, smoking, history of hypertension, diabetes mellitus and hyperlipidemia, the multivariate logistic regression analysis showed that (1)The B1B1 genotype of CETP TaqIB polymorphism increased the risk of CHD significantly ( OR =3 18, 95% CI :1 44～7 05); (2)No significant association was found between D442G mutation of CETP gene and CHD; (3)A statistically significant association was demonstrated for B2 variant of TaqIB polymorphism and elevated HDL C levels, being higher for B2B2 genotype compared with B1B2 or B1B1 genotype( P <0 05). Conclusion CETP gene may be one of the genetic susceptible candidate genes for CHD among Chinese Han population and the TaqIB polymorphism of CETP gene may be one of the genetic determinants for HDL C levels