载脂蛋白E基因多态性对血脂水平的影响及与冠心病的关系

Effection of Apolipoprotein E Gene Polymorphism on Plasm Lipid Level and Association with Coronary Heart Disease

为研究载脂蛋白Ｅ基因多态性在冠心病发生发展中的作用及其对血脂水平的影响，应用聚合酶链反应－ 限制片长多态性检测法，测定２２０ 例冠心病患者和１８０ 例正常对照者的载脂蛋白Ｅ基因型；并按常规方法测定血脂水平。结果发现中国汉族人群中存在５ 种载脂蛋白Ｅ基因型，分别为Ｅ３３、Ｅ３２、Ｅ４３ 、Ｅ４２ 及Ｅ４４。冠心病组载脂蛋白Ｅ４３ 基因型和ε４ 等位基因频率（ 分别为２５．０％ 和１４．３％ ） 均显著高于对照组（１３ ．３％ 和８．１％ ）（ Ｐ＜ ０．０１）， 载脂蛋白Ｅ３３ 基因型频率（５９．５ ％） 则低于对照组（７０ ．０ ％）（Ｐ＜０．０５）；冠心病组总胆固醇、低密度脂蛋白胆固醇水平显著高于对照组（ Ｐ＜ ０．０１）；在冠心病组的各亚型之间，总胆固醇和低密度脂蛋白胆固醇水平之间存在统计学差异（ Ｐ＜０ ．０５） 。上述实验结果说明，载脂蛋白Ｅ基因多态性与冠心病的发生发展密切相关并影响血脂的代谢水平；ε４ 等位基因可能是冠心病重要的遗传易患因素之一。

Aim To study the function of apolipoprotein E gene polymorphism on coronary heart disease (CHD) and to evaluate the effect of apolipoprotein E gene polymorphism on plasma lipid levels. Methods By using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP), we determined apolipoprotein E genotype of 220 CHD patients and 180 healthy controls. Other plasma lipid levels are measured by routine way. Results 5 genotypes of apolipoprotein E , E3/3, E3/2, E4/3, E4/2 and E4/4 are detected in our study. There are statistically significant differences in apolipoprotein E4/3 and ε4 frequencies between CHD patients and controls (P<0.01). We also find statistically difference in apolipoprotein E3/3 frequencies between the two groups (P<0.05). CHD patients have significantly higher serum total cholesterol (TC) and low density lipoprotein cholesterol (LDLC) than controls (P<0.01). Among different apolipoprotein E genotypes of CHD patients, there are statistically difference in TC and LDLC levels. Conclusion These results suggest that apolipoprotein E gene polymorphism is involved in the occurrence and the development of CHD and affects plasma lipid levels. apolipoprotein Eε4 might be an important genetic factor of CHD.