汉族人载脂蛋白A5基因-1131T＞C多态性与2型糖尿病合并冠心病的相关性研究

目的 探讨我国北方地区汉族人载脂蛋白A5基因（APOA5）-1131T＞C多态性对血脂的影响及其与2型糖尿病合并冠心病的关系.方法 应用聚合酶链反应限制性片段长度多态性（PCR-RFLP）技术检测了136例健康对照者、163例2型糖尿病患者（DM组）和114例经冠状动脉造影确诊的2型糖尿病合并冠心病患者（DM＋CHD组）APOA5-1131T＞C多态性基因型和等位基因频率分布,同时检测了研究对象的血脂、脂蛋白和载脂蛋白水平.结果 健康对照组APOA5-1131T＞C多态性与血清甘油三酯（TG）水平密切相关,C等位基因携带者TG水平明显高于TT基因型（1.38比0.91 mmol/L,P＜0.001）.2型糖尿病合并冠心病组APOA5-1131C等位基因频率明显高于对照组（38.4%比28.3%,P=0.023）,TT、TC、CC基因型频率在DM＋CHD组和对照组分别为33.9%、55.4%、10.7%和50.4%、42.5%、7.1%,两组间差异具有统计学意义（P＜0.05）.而2型糖尿病组和对照组相比,APOA5-1131T＞C多态性基因型频率和等位基因频率分布均无差异.结论 APOA5-1131T＞C多态性对人群TG水平有极显著影响,C等位基因与2型糖尿病合并冠心病的患病风险有一定关系.

Relationship between Apolipoprotein AV gene -1131T ＞ C polymorphism and Type 2 Diabetes Mellitus with Coronary Heart Disease in Han Nationality

Objective To investigate the influence of APOA5-1131T>C polymorphism on plasma lipids and the susceptibility to coronary artery disease(CHD)in type 2 diabetics in Han nationality. Methods The genotypes of APOA5-1131T>C polymorphism were analyzed by polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP)in 136 control subjects,163 type 2 diabetics and 114 type 2 diabetes mellitus(DM)with CHD patients.Results The frequency of APOAV-1131 C allele in DM CHD group was significantly higher than that of the subjects in the control group(38.4% vs.28.3%, P=0.023).The distributions of the APOA5-1131T>C genotypes(T/T,T/C and C/C)were 33.9%, 55.4% and 10.7% in DM CHD cases and 50.4%, 42.5% and7.1% in the controls,respectively(P<0.05).Frequencies of alleles and genotypes in type 2 diabetics were not significant compared to that of the controls.In the controls,serum TG level in the subjects with the TT genotype was significantly lower than that in those with TC and CC(0.91 vs.1.38mmol/L,P<0. 001).Conclusion The genetic effects of APOA5-1131T>C polymorphism on serum TG concentration are confirmed in Chinese population,this poly- morphism might play a role in elevated plasma TG levels in type 2 diabetic patients.