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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。CT和TT基因型分布频率
Objective To investigate the relationship between -514C / T polymorphism of hepatic lipase (HL) gene promoter and type 2 diabetes with coronary heart disease in Han nationality. Methods The polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) technique was used to detect the polymorphism of HL gene promoter in 114 type 2 diabetic patients with coronary heart disease, 127 type 2 diabetic patients and 106 healthy controls. 514C / T polymorphism genotype, to explore its effects on blood lipids, lipoproteins and apolipoprotein levels. Results There were no significant differences in the frequencies of -514C / T polymorphism in genotypes and alleles of HL patients between diabetic group and control group. The frequencies of CT and TT genotypes in diabetic patients with coronary heart disease were significantly lower than those in controls 0.439 vs 0.613, P <0.05), but there was no significant difference in allele frequency distribution. There was no significant correlation between genotype and allele frequencies of 514-C / T polymorphism of HL gene promoter and gender, family history, smoking history and body mass index among the three groups. Spearman’s correlation and linear regression analysis showed that all patients with type 2 diabetes mellitus (diabetes mellitus and diabetes mellitus with coronary heart disease) adjusted for gender, age, body mass index (BMI), smoking history, coronary heart disease and family history of hypertension, T allele was positively correlated with high density lipoprotein cholesterol (HDLC) and apolipoprotein A (ApoAⅠ). Logistic regression analysis showed that T allele was not an independent risk factor for coronary heart disease. Conclusion In type 2 diabetes mellitus and its coronary heart disease complications, the 514C / T polymorphism of HL gene promoter has some influence on the blood lipid level. CT and TT genotype distribution frequency