脑白质疏松症患者载脂蛋白E基因多态性的研究  

Study on apolipoprotein E genomic polymorphism in patients with leukoaraiosis.

作　　者：卢洁[1] 卢大雷 葛军[1] 张柯[1] 刘大建[2] 

机构地区：[1]河南开封市医学科学研究所,475000 [2]河南大学淮河医院,475000

出　　处：《新医学》2004年第3期150-152,共3页Journal of New Medicine

摘　　要：目的:研究脑白质疏松症患者载脂蛋白E(apolipoproteinE,ApoE)基因多态性的分布及与不同基因型ApoE与血脂的关系,探讨其可能的发病机制。方法:以PCR-限制性片段长度多态性(restrictionfragmentlengthpolymorphism,RELP)检测法测定58例脑白质疏松症患者(病例组)及58例对照组患者的ApoE基因型,并检测血脂水平,分析不同基因型间的血脂水平。结果:病例组ε2/2、ε3/3、ε4/4、ε2/3、ε2/4、ε3/4基因型频率分别为0、53%、2%、12%、12%、21%;对照组相应为2%、67%、2%、17%、9%、3%。病例组ε2、ε3、ε4等位基因频率为12%、70%、18%,对照组相应为15%、78%、8%。病例组ε3/4+ε4/4的频率和ε4频率均高于对照组(P<0.05);ε4基因携带者脑白质疏松症发病危险性高于非ε4基因携带者(相关系数为2.63,95%可信区间为0.43～4.82,P<0.05)。血浆总胆固醇水平ε2/4组高于ε2/3组,ε3/4组高于ε3/3组,ε3/4组高于ε2/3组,均P<0.05,即ε4携带者的总胆固醇水平高于ε3及ε2携带者。结论:ε4是脑白质疏松症发病的一个遗传危险因子,ε4可能是通过增高血浆总胆固醇水平,加速动脉粥样硬化过程起作用。Objective: To study the distribution frequency of apolipoprotein E( ApoE) genotypes in patients with leukoaraiosis and their relationship with blood lipid level. Methods: ApoE genomic polymorphism was analyzed by polymerase chain reaction restriction fragment length polymorphism(PCR RELP) method and blood lipid was measured in 58 patients with leukoaraiosis and 58 normal controls. Blood lipid level was compared between groups with different genetypes. Results: The distribution frequency of ε 2/2, ε 3/3, ε 4/4, ε 2/3, ε 2/4 and ε 3/4 was 0, 53% , 2% , 12% , 12% and 21% in the patient group and was 2% , 67% , 2% , 17% , 9% and 3% in control group. The frequency of ε 2, ε 3 and ε 4 allele was 12% , 70% and 18% in patient group and was 15% , 78% and 8% in control group. The frequencies of ε 3/4+ ε 4/4 and ε 4 allele was higher in patient group than those in control group(P <0.05); The risk of leukoaraiosis was higher in individuals with ε 4 allele than that in individuals without ε 4 allele( OR=2.63, 95% , CI 0.43～ 4.82, P <0.05) . Total cholesterol level were higher in ε 2/4 group than that in ε 2/3 group, higher in ε 3/4 group than that in ε 3/3 group, higher in ε 2/4 group than that in ε 2/3 group(all P <0.05), Total cholesterol was higher in individuals with ε 4 allele than those with ε 3 allele and ε 2 allele. Conclusion: ε 4 allele is a genomic risk factor for leukoaraiosis, probably by leading to high plasma total cholesterol level and promoting atherosclerotic process.

关 键 词：脑白质疏松症 载脂蛋白E 基因多态性 血脂水平 测定 基因型 

分 类 号：R742[医药卫生—神经病学与精神病学] R394[医药卫生—临床医学]