汉族人肝脂酶基因启动子-514C/T多态性与2型糖尿病合并冠心病的关系  

The effect of hepatic lipase gene promoter-514C/T polymorphism on the presence of type 2 diabetes mellitus with coronary heart disease in Han Nationality

作　　者：李宏义[1] 鄢盛恺[2] 严晓伟[3] 

机构地区：[1]卫生部北京医院心内科,100730 [2]中国医学科学院中国协和医科大学北京协和医院检验科 [3]中国医学科学院中国协和医科大学北京协和医院心内科

出　　处：《中华检验医学杂志》2005年第4期373-377,共5页Chinese Journal of Laboratory Medicine

摘　　要：目的探讨汉族人肝脂酶(HL)基因启动子-514C/T多态性与2型糖尿病合并冠心病的关系。方法采用聚合酶链反应限制性片段长度多态性(PCR-RFLP)技术检测了114例2型糖尿病合并冠心病患者、127例2型糖尿病患者和106名健康对照组汉族人HL基因启动子-514C/T多态性基因型,探讨了其对血脂、脂蛋白和载脂蛋白水平的影响。结果糖尿病组与对照组HL基因启动子-514C/T多态性基因型和等位基因频率分布差异无统计学意义,糖尿病合并冠心病组的CT和TT基因型频率分布明显低于对照组(0.439比0.613,P<0.05),但是等位基因频率分布差异无统计学意义。3组研究对象中,HL基因启动子514-C/T多态性基因型和等位基因分布频率与性别、家族史、吸烟史及体重指数无明显关联性。当调整了性别、年龄、体重指数(BMI)、吸烟史、冠心病和高血压家族史等因素后,Spearman相关及线性回归分析显示,所有2型糖尿病患者(糖尿病组与糖尿病合并冠心病组)中,T等位基因与高密度脂蛋白胆固醇(HDLC)、载脂蛋白AⅠ(apoAⅠ)呈明显正相关;Logistic回归分析显示,T等位基因不是冠心病发生的独立危险因素。结论在2型糖尿病及其冠心病合并症中,HL基因启动子514C/T基因多态性对血脂水平有一定影响。Objective To explore the effect of the interaction between hepatic lipase gene promoter -514C/T polymorphism on the presence of type 2 diabetes mellitus with coronary heart disease and the lipids.Methods Using the method of polymerase chain reaction-restricted fragments length polymorphism.We determine the genotype of the hepatic lipase gene promoter -514C/T. The effects of gene polymorphism on plasma lipids, lipoproteins and apoproteins were also studied in 114 patients with type 2 diabetes with coronary heart disease, 127 patients with type 2 diabetes and 106 controls.Results The frequencies of alleles and genotypes in the type 2 diabetes are not significantly different with that of the controls. The frequency of T allele in the type 2 diabetes with coronary heart disease is not related with that of controls, however, its TT and CT genotypes are lower than those in controls( 0.439 vs 0.613,P< 0.05 ). Both of the frequencies of alleles and genotypes are not related with gender, family history, smoking and BMI. In both of Spearman′s relation and linear regression, when adjusted by the factors: gender, age, BMI, a history of smoking, a family history of coronary arthrosclerosis and systemic hypertension, the T allele is related positively to the levels of HDL-C and apoAⅠin type 2 diabetes and that with coronary heart disease. However Logistic regression shows the T allele is not a independent risk factor of the presence of CHD.Conclusion The hepatic lipase gene promoter -514C/T polymorphism is related with the levels of HDL-C and apoAⅠin type 2 diabetes and that with coronary heart disease. And that the lower frequency of TT and CT genotypes in the type 2 diabetes with coronary heart disease compared with that in controls appears to be associated with the development of the macrovascular complications of diabetes.

关 键 词：2型糖尿病合并冠心病 基因启动子 汉族人 聚合酶链反应限制性片段长度多态性 肝脂酶 Logistic回归分析 2型糖尿病患者 高密度脂蛋白胆固醇 糖尿病大血管病变 等位基因频率 基因分布频率 高血压家族史 线性回归分析 载脂蛋白AⅠ 

分 类 号：R587.1[医药卫生—内分泌] R737.250.2[医药卫生—内科学]