中华精神科杂志
中華精神科雜誌
중화정신과잡지
CHINESE JOURNA OF PSYCHIATRY
2013年
5期
295-300
,共6页
岳春贤%张志珺%宇辉%施咏梅%滕玉环%束昊%刘晓燕%庄丽英
嶽春賢%張誌珺%宇輝%施詠梅%滕玉環%束昊%劉曉燕%莊麗英
악춘현%장지군%우휘%시영매%등옥배%속호%류효연%장려영
载脂蛋白E类%遗忘型轻度认知功能障碍%淀粉样β蛋白%多态性,单核苷酸
載脂蛋白E類%遺忘型輕度認知功能障礙%澱粉樣β蛋白%多態性,單覈苷痠
재지단백E류%유망형경도인지공능장애%정분양β단백%다태성,단핵감산
Apolipoproteins E%Amnestic mild cognitive impairment%Amyloid beta-protein%Polymorphism,single nuclotide
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.
目的 探討遺忘型輕度認知障礙(amnestic mild cognitive impairment,aMCI)的認知特徵及載脂蛋白E(apolipoprotein E,APOE)和澱粉樣蛋白(β-amyloid,Aβ)變性相關基因多態性與aMCI的關聯性.方法 採用病例對照研究,應用多維度神經心理測試量錶評估,篩選齣116例aMCI患者(患者組)和93例對照者(對照組)後,以單覈苷痠多態(single nuclear polymorphism,SNP)芯片檢測APOE及Aβ代謝相關的10箇基因23箇SNP位點的基因多態性,分析2組等位基因、基因型頻率分佈的差異及其與aMCI的關聯.結果 (1)除Rey-Osterrich複雜圖形測驗和畫鐘測驗外,aMCI組其他神經認知功能測試成績均差于對照組(均P ＜0.05).(2) aMCI組APOEε4等位基因攜帶率顯著高于對照組(x2=12.40,P=0.00).(3)線粒體外膜轉位酶40(translocase of outer mitochondrial membrane 40,TOMM40)基因rs157581位點和rs2075650的G等位基因頻率分佈均高于對照組(P ＜0.02,P＜0.01).結論 aMCI患者存在以情節記憶損傷為主的全麵認知功能減退；APOEε4等位基因為aMCI髮病易感因素；攜帶TOMM40基因rs157581和rs2075650 G等位基因罹患aMCI風險增高.
목적 탐토유망형경도인지장애(amnestic mild cognitive impairment,aMCI)적인지특정급재지단백E(apolipoprotein E,APOE)화정분양단백(β-amyloid,Aβ)변성상관기인다태성여aMCI적관련성.방법 채용병례대조연구,응용다유도신경심리측시량표평고,사선출116례aMCI환자(환자조)화93례대조자(대조조)후,이단핵감산다태(single nuclear polymorphism,SNP)심편검측APOE급Aβ대사상관적10개기인23개SNP위점적기인다태성,분석2조등위기인、기인형빈솔분포적차이급기여aMCI적관련.결과 (1)제Rey-Osterrich복잡도형측험화화종측험외,aMCI조기타신경인지공능측시성적균차우대조조(균P ＜0.05).(2) aMCI조APOEε4등위기인휴대솔현저고우대조조(x2=12.40,P=0.00).(3)선립체외막전위매40(translocase of outer mitochondrial membrane 40,TOMM40)기인rs157581위점화rs2075650적G등위기인빈솔분포균고우대조조(P ＜0.02,P＜0.01).결론 aMCI환자존재이정절기억손상위주적전면인지공능감퇴；APOEε4등위기인위aMCI발병역감인소；휴대TOMM40기인rs157581화rs2075650 G등위기인리환aMCI풍험증고.
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.
