北京自然人群载脂蛋白E基因多态性频率分布及与血脂关系研究

目的 :本文旨在探讨apoE基因多态性对中国人群血脂水平的影响 ,以期为进一步研究提供基础和线索。方法 :我们进行了大样本北京自然人群横断面研究 ,应用聚合酶链反应—限制性片段长度多态性技术 (PCR—RFLP)进行apoE基因分型 ,分析人群apoE基因频率分布特点并比较不同apoE基因型血脂水平及各种异常脂血症的患病率。结果 :1 我国北京自然人群中存在 6种基因型 ,其中以ε3 3为主 ,占总基因频率的 6 5 6 % ;人群中ε2、ε3、ε4频率分别为 9 1%、81 2 %和 9 7% ,男女基因频率无显著差异 ;2 apoE基因多态性对LDL C影响最强 ,LDL C血浆水平ε2 2最低 ,ε4 4最高 ,ε3 3居中 ;3 ε2 2者血脂水平最具特征性 :与ε3 3相比 ,LDL C明显减低 ,HDL C、VLDL C有增高趋势 ;4 ε2 3高LDL C血症患病率减低 ;ε3 4低HDL C血症合并高TG血症患病率增高。结论 :我国人群apoE基因多态性频率分布有其自身特点 ,并与血脂代谢密切相关。

The study on the effects of apolipoprotein E gene polymorphism on serum lipids and it's frequency distribution in Beijing natural population

Objective:The study aims at analysis of the frequency of apoE gene polymorphism in Beijing natural population and the effect of apoE gene polymorphism on serum lipid.Method:We carried out the cross -sectional study in natural population of Beijing. The study identified apoE genotypes by the technique of PCR-RFLP.Result:1. Six genotypes are found in natural population of Beijing, ε3/3 account for 65.6%.The frequency of ε2,ε3,ε4 are 9.1%,81.2% and 9.7% respectively. There are not significant difference between men and women . 2. The effect of apoE gene polymorphism is the most pronounced on LDL-C level. ε2/2 has the lowest LDL-C level, ε4/4 has the highest level, ε3/3 is medial.3.The lipid profile of ε2/2 is characteristic: LDL-C level is significantly lower than that of ε3/3 ,HDL-C and VLDL-C have the increased trend. 4. Compared with ε3/3,ε2/3 decreases the prevalence of hypercholesterolemia; ε3/4 increases the prevalence of hypertriglyceridemia combined with hypoalphalipoproteinemia.Conclusion:The frequency distribution of apoE gene polymorphism in Beijing natural population has its own traits. ApoE gene polymorphism is closely related with serum lipid.