老年痴呆患者载脂蛋白E增强子基因多态性分析

Association Analysis of Apolipoprotein E Intron I Enhancer(ApoE IE1) Gene Polymorphisms with Alzheimer,disease or Serum Lipid Level

目的探讨载脂蛋白(ApoE)基因内含子Ⅰ内的增强子元件(IE1)中存在+133G/C多态性与老年痴呆症(alzheimer’s disease,AD)、血脂代谢紊乱三者之间的相关性,了解贵阳市老年痴呆分子流行病学特征。方法采用多级随机整群抽样方法,用简易智能状态量表对调查对象(共调查3 590人)进行认知功能检查,对筛查确诊为AD的患者采用多聚酶链反应限制性片断长度多态性(PCR-RFLP)技术分析其ApoE IE1的基因型并进行血脂水平检测。结果AD患者组和对照组ApoEIE1基因型分布均符合Hardy-Weinterg平衡,AD组G/G基因型频率显著高于对照组,其血清总胆固醇(TC)水平明显高于正常对照组。结论AD患者ApoE IE1G等位基因频率显著高于对照组,IE1两种等位形式可能影响增强子活性,且与血脂代谢紊乱相伴随。

Objective To investigate the association of the polymorphisms of apolipoprotein E(ApoE) intron 1 enhancer(IE1) with Alzheimer,disease(AD) and serum lipid level.A lot of factors play important roles in occur of AD,but the relationship among these factors and how did they influence each other were not very clear and need further study. Methods The G/C base exchange in the enhancer region +133(ApoE IE1+133 G/C) were determined by polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP) method.On the other hand Total cholesterol(TC) was detected in serum with routine biochemical methods in 40 AD patients as well as 40 control subjects. Results The genotypes of ApoE IE1 were according to Hardy-Weinberg principle.The allele frequencies in the +133 site of ApoE IE1 were 78.75% for the G allele and 58.75% for the C allele.In AD patients,the highest genotype frequency was found to be G/G at 62.5%(n=25) followed by G/C at 32.5%(n=13),C/C 5.0%(n=2).In control subjects G/G at 27.5%(n=11).G/C was 62.5%.C/C is 10%.Obviously the frequency of G/G genotype in AD patients was significantly higher than control group(p<0.05).Moreover detected the level of TC,TG in serum significantly different,the level in G/G with AD was higher than that in control group(P<0.05). Conclusion ApoE IE1 gene polymorphism is closely related to serum lipid,and G/G genotype may be a risk factor of AD.