冠心病易感基因载脂蛋白E、低密度脂蛋白受体多态性与烟、酒的交互作用的研究  

Interaction of ApoE and LDL-R gene polymorphisms and alcohol drinking and smoking on coronary heart disease

作　　者：汪春红[1] 周新[1] 周光娣[2] 韩定芬[1] 郑芳[1] 

机构地区：[1]武汉大学中南医院基因诊断中心,430071 [2]宜昌市葛洲坝中心医院

出　　处：《中华医学杂志》2004年第7期554-558,共5页National Medical Journal of China

基　　金：湖北省教育厅攻关基金资助项目 (2 0 0 0B0 3 0 12 )

摘　　要：目的　探讨载脂蛋白E(ApoE)、低密度脂蛋白受体 (LDL R)基因多态性与烟、酒对汉族人群冠心病的交互影响。方法　采用病例 -对照研究方法 ,ApoE基因多态性检测用多重特异性扩增突变系统快速分型法 ,LDL R基因AvaⅡ位点多态性采用多聚酶链反应 限制性片段长度多态性 ,血脂测定在全自动化分析仪上进行 ,资料分析用Logistic回归模型等。病例组 14 6人 ,平均年龄6 4岁±11岁 ;对照组 340人 ,平均年龄 6 3岁± 12岁。结果　 (1)病例组收缩压和舒张压 (132mmHg± 2 1mmHg ,81mmHg± 13mmHg ,1mmHg =0 133kPa)均显著高于对照组 (12 3mmHg± 17mmHg ,77mmHg±11mmHg) ,P <0 0 1;与对照组相比 ,病例组血清甘油三酯水平显著增高 (P <0 0 5 ) ,总胆固醇、低密度脂蛋白 胆固醇有增高趋势 ,但差异无显著意义 (P >0 0 5 )。 (2 )病例组ApoEE4 /3基因型 (2 4 0 % )和ε4等位基因型 (13 4 % )频率显著高于对照组 (12 9% ,7 2 % ) ;LDL RAvaⅡ位点 3种基因型和 2种等位基因型频率分布两组间差异无显著意义 ,但病例组携带ε4等位基因者同时携带AvaⅡ + 位点的比例 (6 0 % )显著高于对照组 (31 8% ) ,P <0 0 5。 (3)调整年龄、性别、血压、体重指数后 ,两基因与烟。Objective To investigate the association between the ApoE and LDLR-R gene loci on coronary heart disease (CHD) and their interaction with alcohol drinking and smoking in Hans of Chinese. Methods A questionnaire survey of the behaviors of smoking and drinking, dietary custom, and anamnesis, was conducted among 146 cases of CHD, aged 64±11, and 340 controls, aged 63±12. Peripheral blood samples were collected and the total DNAs were extracted. The levels of triglyceride (TG), total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C) were examined. The ApoE genotype was identified by the method of multiplex amplification refractory mutation system and AvaⅡ polymorphisms of the LDL-R gene were detected by using the method of polymerase chain reaction-restriction fragment length polymorphism. The interaction between the genes and alcohol drinking and smoking was analyzed by using multivariate logistic regression models. Results (1)Both the systolic blood pressure and diastolic blood pressure of the CHD patients(132 mm Hg±21 mm Hg, and 81 mm Hg±13 mm Hg,1 mm Hg=0.133 kPa)were significantly higher than those of the controls (123 mm Hg±17 mm Hg and 77 mm Hg±11 mm Hg, both P <0.05). The level of TG was 1.6±0.9 mmol/L in the CHD group, significantly higher than that in the control group (1.4±0.8 mmol/L, P <0.05). However, there was no difference in the levels of TC, LDL-C, and HDL-C between the 2 groups (all P >0.05). (2) For the ApoE gene, the frequencies of E4/3 genotype and ε4 allele were 24.0% and 13.4% respectively in the CHD group, both significantly higher than those in the control group(12.9% and 7.2% respectively, both P <0.05). For the LDLR-AvaⅡ locus, no difference was found in different genotypes between the CHD and control groups. However, the proportion of those withε4 locus and AvaⅡ + locus simultaneously was 60% in the CHD group, significantly higher than in the control group (31.8%, P <0.05). (3) After adjustment of confounding

关 键 词：冠心病 易感基因 载脂蛋白E 低密度脂蛋白受体 基因多态性 

分 类 号：R541.4[医药卫生—心血管疾病]