8-羟基鸟嘌呤糖苷酶1、载脂蛋白酶E基因多态性与阿尔茨海默病相关性研究  

Association of the polymorphisms of 8-oxoguaniue gene and apolipoprotein E gene with Alzheimer's disease

作　　者：王建平[1] 肖明跃[1] 蒋超[1] 李芳芳[1] 

机构地区：[1]郑州大学第五附属医院神经内科,河南郑州450052

出　　处：《中风与神经疾病杂志》2013年第5期399-403,共5页Journal of Apoplexy and Nervous Diseases

基　　金：河南省科技厅自然科学研究基金(112102310114)

摘　　要：目的探讨河南汉族人群8-羟基鸟嘌呤糖苷酶1(OGG1)、载脂蛋白酶E(ApoE)基因多态性与阿尔茨海默病的相关性。方法采用聚合酶链反应(PCR)及基因测序检测126例正常对照组和58例阿尔茨海默病患者OGG1基因第326位Ser/Ser、Ser/Cys、Cys/Cys基因型多态分布及ApoEε2、ε3、ε4基因型多态分布。结果与对照组比较,AD组OGG1基因的3种基因型分布总体差异有统计学意义(χ2=6.337,P=0.042),G等位基因频率高于健康对照组(χ2=6.447,P=0.011);AD组ApoE等位基因ε4频率显著升高,呈正关联(χ2=11.722,OR=2.872,95%CI=1.542～5.351,P=0.001)。ApoEε4等位基因不影响OGG1基因型或等位基因的分布频率(P>0.05)。经年龄分层后,AD组OGG1基因分布无差异性(P>0.05),ApoE基因在大于70岁组分布有差异性(χ2=14.163,P=0.001)。结论河南汉族人群中,OGG1 G等位基因可能是AD发病的独立于ApoE之外的危险因素,与年龄无相关性;ApoEε4等位基因是散发性AD的主要危险因素,并与年龄有相关性,ε3等位基因是AD的保护因素。Objective To explore the roles of the polymorphisms of 8-oxoguaniue gene,the apolipoprotein E（ApoE） gene in the development of Alzheimer＇s disease（AD） in Han people of HeNan province.Methods The gene polymorphism distribution of OGG1（Ser/Ser,Ser/Cys,Cys/Cys） and ApoE（ε2,ε3,ε4） were detected in 58 AD patients and 126 normal controls with polymerase chain reaction（PCR） and gene sequencing.Results Compared to the normal controls,the distribution of OGG1 three genotypes was significantly different in AD patients（χ^2=6.337,P=0.042）.The presence of OGG1 allele G was higher in AD than normal controls（χ^2=6.447,P=0.011）.The frequency of alleleε4 in patients with AD increased significantly compared with that of normal controls,and a positive correlation is found between them（χ^2=11.722,OR=2.872,95%CI=1.542-5.351,P=0.001）.The presence of the ApoEε4 allele did not influence OGG1 genotypes or allele distribution（P〉0.05）.All the subjects were stratificatied by age,we found that there was significant difference in the allele frequency of ApoE between the AD cases and controls groups（70 years old）（χ^2=14.163,P=0.001）while no significant difference of OGG1 gene polymorphism in stracification of age between AD and control groups（P〉0.05）.Conclusion In Henan Han people,the allele G of the OGG1 may be a risk factor of sporadic AD,which has no correlation with age and was independent of ApoE.The alleleε4 of the ApoE is a major risk factor of sporadic AD which has correlation with age.The alleleε3 of ApoE gene might be a protective factor.

关 键 词：8-羟基鸟嘌呤糖苷酶1 载脂蛋白酶E 阿尔茨海默病 单核苷酸多态性 

分 类 号：R749.16[医药卫生—神经病学与精神病学]