载脂蛋白E基因多态性与高脂血症的关系

目的 研究载脂蛋白Ｅ（ａｐｏＥ）基因多态性对血脂水平的影响及其与高脂血症的关系。方法 应用聚合酶链反应结合限制性片段长度多态性（ＰＣＲ－ＲＦＬＰ）检测法，测定８７例正常对照者和１６３例高脂血症患者的ａｐｏＥ基因型；血脂水平按常规方法测定。结果 共检测出４种ａｐｏＥ基因型，分别显Ｅ３／３、Ｅ４／３及Ｅ４／２。高脂血症组ａｐｏＥ４／３基因型和ε４等位基因频率均高于对照组（Ｐ〈０．０５）；不同的ａｐｏＥ等位基因间ＴＣ和ＬＤＬ－Ｃ水平存在差别，依次是ε４〉ε３〉ε２。结论 ａｐｏＥ基因多态性影响血脂的代谢水平；ε４等位基因是高脂血症的遗传易患因素之一。

Relationship between apolipoprotein E gene polymorphism and hyperlipidemia

Objective　To study the influence apolipoprotein E(apoE) gene polymorphism on plasma lipid levels and hyperlipidemia. Methods　By using PCR-RFLP, we determined apoE genotype of 87 hyperlipidemia patients and 163 healthy controls. Other plasma lipid para-meters were measured by routine method. Results　Four genotypes of apoE, E3/3, E3/2, E4/3 and E4/2 were detected in this study. There were statistically significant differences in apoE4/3 and ε4 frequencies between CHD patients and controls (P＜0.05). Hyperlipidemia patients had higher plasma total cholesterol (TC) and low density lipoprotein cholesterol (LDL-C) than those of controls (P＜0.05). Among different apoE genotypes, there were statistically significant difference in TC and LDL-C level (ε4＞ε3＞ε2). Conclusion　 that apoE gene polymorphism may affect plasma lipid levels. apoE ε4 may be an important genetic factor of hyperlipidemia.