中文摘要：

目的 探讨遗忘型轻度认知障碍（amnestic mild cognitive impairment,aMCI）的认知特征及载脂蛋白E（apolipoprotein E,APOE）和淀粉样蛋白（β-amyloid,Aβ）变性相关基因多态性与aMCI的关联性.方法 采用病例对照研究,应用多维度神经心理测试量表评估,筛选出116例aMCI患者（患者组）和93例对照者（对照组）后,以单核苷酸多态（single nuclear polymorphism,SNP）芯片检测APOE及Aβ代谢相关的10个基因23个SNP位点的基因多态性,分析2组等位基因、基因型频率分布的差异及其与aMCI的关联.结果 （1）除Rey-Osterrich复杂图形测验和画钟测验外,aMCI组其他神经认知功能测试成绩均差于对照组（均P ＜0.05）.（2） aMCI组APOEε4等位基因携带率显著高于对照组（x2=12.40,P=0.00）.（3）线粒体外膜转位酶40（translocase of outer mitochondrial membrane 40,TOMM40）基因rs157581位点和rs2075650的G等位基因频率分布均高于对照组（P ＜0.02,P＜0.01）.结论 aMCI患者存在以情节记忆损伤为主的全面认知功能减退；APOEε4等位基因为aMCI发病易感因素；携带TOMM40基因rs157581和rs2075650 G等位基因罹患aMCI风险增高.

英文摘要：

Objective To explore neuropsychological characteristics in amnestic mild cognitive impairment（aMCI） and to verify the association of aMCI with polymorphisms of apolipoprotein E and genes associated with β-amyloid.Methods In this case-control study,multiple-dimension neuropsychological tests were used to estimate 116 clinically-diagnosed aMCI patients and 93 normal controls.Sequenom MassARRAY （R） chip were used to detect the polymorphisms.SHEsis and UNPHASED-3.0.13 software were used to analyze linkage disequilibrium and genotype and haplotype associations with aMCI.Results （1） Except Rey-Osterrich complex figure test and clock drawing test,most neuropsychological battery scores in aMCI patients were significantly lower than those in control （all P 〈 0.05）.（2） The frequency of APOE epsilon4 allele carriers in aMCI was higher than control（x2 =12.40,P =0.00）.（3）Significant association of the translocase of outer mitochondrial membrane 40 gene （TOMM40） with aMCI was found for the rs157581 G （P 〈 0.02）,and rs2075650 G （P 〈 0.01） alleles.Conclusions It indicates that SNPs in the APOE gene may be associated with aMCI in Chinese Han population.The association of TOMM40 SNPs （rs157581G and rs2075650G） with aMCI suggests that this gene is a further risk factor for the development of dementia.