中华神经科杂志
中華神經科雜誌
중화신경과잡지
Chinese Journal of Neurology
2012年
2期
78-83
,共6页
刘晓燕%张志珺%施咏梅%宇辉%岳春贤%束昊%庄丽英%徐小惠
劉曉燕%張誌珺%施詠梅%宇輝%嶽春賢%束昊%莊麗英%徐小惠
류효연%장지군%시영매%우휘%악춘현%속호%장려영%서소혜
遗忘%认知障碍%tau蛋白质类%多态现象,遗传
遺忘%認知障礙%tau蛋白質類%多態現象,遺傳
유망%인지장애%tau단백질류%다태현상,유전
Amnesia%Cognition disorders%Tau Proteins%Polymorphism,genetic
目的 探讨遗忘型轻度认知障碍(aMCI)的认知特征及其与tau蛋白通路功能基因多态的关联性.方法 应用多维度神经心理测试量表全面评估1 16例aMCI患者和93名健康对照者的神经认知功能,采用单核苷酸多态性( SNP)芯片检测tau蛋白通路基因多态并分析其等位基因、基因型、单倍型及其与ApoEε4交互作用在两组间的差异,以及与认知功能的相关性.结果 (1)aMCI组记忆领域各神经认知功能测试[听觉词语学习测试(AVLT)第1次、第2次、第3次即刻回忆,AVLT-5 min、20 min延迟回忆,AVLT-再认,Rey-Osterrich复杂图形测验-延迟回忆]成绩[3.0(0 ～7.0)、5.0(1.0～10.0)、6.0(1.0～11.0)、4.0(0～11.0)、3.0(0 ～10.0)、20.0(8.0 ～24.0)、11.2±8.3]均差于健康对照组[4.0(0 ～9.0)、7.0(2.0～11.0)、9.0(3.0 ～12.0)、8.0 (0～ 12.0)、8.0(0～12.0)、22.0(10.0～24.0)、16.1±8.0,Z=-3.592、- 6.802、-6.408、- 8.173、- 8.533、-5.647,t=4.216,均P＜0.01]；(2) aMCI组MAPT/STH基因rs242562 GG基因型分布频率(7.826％)低于对照组(20.650％),差异有统计学意义(OR =0.3525,95％ CI0.1411 ～0.8807,P=0.024 98),但两组间糖原合酶激酶3β、细胞周期依赖性蛋白激酶5、钙离子依赖性蛋白激酶Ⅱ、细胞周期分裂2、双重特性酪氨酸磷酸化调节激酶和低密度脂蛋白受体相关蛋白6基因多态差异均无统计学意义；(3) aMCI组MAPT/STH rs242562基因型亚组间AVLT第1次、第2次和第3次即刻回忆,AVLT-5 min和20 min延迟回忆,Rey-Osterrich复杂图形测验、Rey-Osterrich复杂图形测验-延迟回忆、画钟测验成绩差异均有统计学意义(H=9.763、12.258、10.508、9.624、10.767,F=3.700、3.123,H=6.591,均P＜0.05)；(4)MAPT/STH基因rs242562 GG基因型与ApoE ε4单倍型在两组间的分布频率差异无统计学意义.结论 aMCI患者存在记忆功能减退,MAPT/STH基因rs242562 GG基因型减少aMCI遗传风险,且该基因型携带者记忆功能相对保持,但ApoE ε4与MAPT/STH基因多态交互作用不改变aMCI遗传易患性.
目的 探討遺忘型輕度認知障礙(aMCI)的認知特徵及其與tau蛋白通路功能基因多態的關聯性.方法 應用多維度神經心理測試量錶全麵評估1 16例aMCI患者和93名健康對照者的神經認知功能,採用單覈苷痠多態性( SNP)芯片檢測tau蛋白通路基因多態併分析其等位基因、基因型、單倍型及其與ApoEε4交互作用在兩組間的差異,以及與認知功能的相關性.結果 (1)aMCI組記憶領域各神經認知功能測試[聽覺詞語學習測試(AVLT)第1次、第2次、第3次即刻迴憶,AVLT-5 min、20 min延遲迴憶,AVLT-再認,Rey-Osterrich複雜圖形測驗-延遲迴憶]成績[3.0(0 ～7.0)、5.0(1.0～10.0)、6.0(1.0～11.0)、4.0(0～11.0)、3.0(0 ～10.0)、20.0(8.0 ～24.0)、11.2±8.3]均差于健康對照組[4.0(0 ～9.0)、7.0(2.0～11.0)、9.0(3.0 ～12.0)、8.0 (0～ 12.0)、8.0(0～12.0)、22.0(10.0～24.0)、16.1±8.0,Z=-3.592、- 6.802、-6.408、- 8.173、- 8.533、-5.647,t=4.216,均P＜0.01]；(2) aMCI組MAPT/STH基因rs242562 GG基因型分佈頻率(7.826％)低于對照組(20.650％),差異有統計學意義(OR =0.3525,95％ CI0.1411 ～0.8807,P=0.024 98),但兩組間糖原閤酶激酶3β、細胞週期依賴性蛋白激酶5、鈣離子依賴性蛋白激酶Ⅱ、細胞週期分裂2、雙重特性酪氨痠燐痠化調節激酶和低密度脂蛋白受體相關蛋白6基因多態差異均無統計學意義；(3) aMCI組MAPT/STH rs242562基因型亞組間AVLT第1次、第2次和第3次即刻迴憶,AVLT-5 min和20 min延遲迴憶,Rey-Osterrich複雜圖形測驗、Rey-Osterrich複雜圖形測驗-延遲迴憶、畫鐘測驗成績差異均有統計學意義(H=9.763、12.258、10.508、9.624、10.767,F=3.700、3.123,H=6.591,均P＜0.05)；(4)MAPT/STH基因rs242562 GG基因型與ApoE ε4單倍型在兩組間的分佈頻率差異無統計學意義.結論 aMCI患者存在記憶功能減退,MAPT/STH基因rs242562 GG基因型減少aMCI遺傳風險,且該基因型攜帶者記憶功能相對保持,但ApoE ε4與MAPT/STH基因多態交互作用不改變aMCI遺傳易患性.
목적 탐토유망형경도인지장애(aMCI)적인지특정급기여tau단백통로공능기인다태적관련성.방법 응용다유도신경심리측시량표전면평고1 16례aMCI환자화93명건강대조자적신경인지공능,채용단핵감산다태성( SNP)심편검측tau단백통로기인다태병분석기등위기인、기인형、단배형급기여ApoEε4교호작용재량조간적차이,이급여인지공능적상관성.결과 (1)aMCI조기억영역각신경인지공능측시[은각사어학습측시(AVLT)제1차、제2차、제3차즉각회억,AVLT-5 min、20 min연지회억,AVLT-재인,Rey-Osterrich복잡도형측험-연지회억]성적[3.0(0 ～7.0)、5.0(1.0～10.0)、6.0(1.0～11.0)、4.0(0～11.0)、3.0(0 ～10.0)、20.0(8.0 ～24.0)、11.2±8.3]균차우건강대조조[4.0(0 ～9.0)、7.0(2.0～11.0)、9.0(3.0 ～12.0)、8.0 (0～ 12.0)、8.0(0～12.0)、22.0(10.0～24.0)、16.1±8.0,Z=-3.592、- 6.802、-6.408、- 8.173、- 8.533、-5.647,t=4.216,균P＜0.01]；(2) aMCI조MAPT/STH기인rs242562 GG기인형분포빈솔(7.826％)저우대조조(20.650％),차이유통계학의의(OR =0.3525,95％ CI0.1411 ～0.8807,P=0.024 98),단량조간당원합매격매3β、세포주기의뢰성단백격매5、개리자의뢰성단백격매Ⅱ、세포주기분렬2、쌍중특성락안산린산화조절격매화저밀도지단백수체상관단백6기인다태차이균무통계학의의；(3) aMCI조MAPT/STH rs242562기인형아조간AVLT제1차、제2차화제3차즉각회억,AVLT-5 min화20 min연지회억,Rey-Osterrich복잡도형측험、Rey-Osterrich복잡도형측험-연지회억、화종측험성적차이균유통계학의의(H=9.763、12.258、10.508、9.624、10.767,F=3.700、3.123,H=6.591,균P＜0.05)；(4)MAPT/STH기인rs242562 GG기인형여ApoE ε4단배형재량조간적분포빈솔차이무통계학의의.결론 aMCI환자존재기억공능감퇴,MAPT/STH기인rs242562 GG기인형감소aMCI유전풍험,차해기인형휴대자기억공능상대보지,단ApoE ε4여MAPT/STH기인다태교호작용불개변aMCI유전역환성.
Objective To investigate the relationship between amnestic mild cognitive impairment and functional genes associated with hyperphosphorylated tau protein.Methods One hundred and sixteen amnestic mild cognitive impairment (aMCI) patients and 93 normal controls were recruited for the study.Multi-dimension neuropsychologic tests were used to assess the cognitive function extensively.MassARRAY and iPlex systems were used to measure candidate SNP polymorphisms,analyze genotypic,allelic or haplotypic distributions and their interaction with ApoE ε4 and the correlation with the cognitive function in the subjects.Results ( 1 ) The scores of neuropsychologic tests in memory domain ( Auditory Verbal Learning Test (AVLT)-first immediate recall,AVLT-second immediate recall,AVLT-second immediate recall,AVLT-5 minute delayed recall,AVLT-20 minute delayed recall,AVLT-recognition,Rey-Osterrich Comolex Test-delay) in aMCI patients ( 3.0 ( 0-7.0 ),5.0 ( 1.0-10.0),6.0 ( 1.0-11.0 ),4.0 (0-11.0),3.0(0-10.0),20.0(8.0-24.0),11.2 ±8.3) were significantly lower than those in the normal controls(4.0(0-9.0),7.0(2.0-11.0),9.0(3.0-12.0),8.0(0-12.0),8.0(0-12.0),22.0 (10.0-24.0),16.1±8.0) (Z=-3.592,-6.802,-6.408,-8.173,-8.533,-5.647 andt=4.216 respectively,all P ＜0.01 ) ; (2) Genotypic distributions of rs242562 GG in aMCI (7.826％ ) were significantly lower than those in normal controls (20.65％,OR =0.3525,95％ CI 0.1411-0.8807,P =0.024 98),however there were no differences in the genotypic,allelic or haplotypic distributions between aMCI patients and controls of glycogen synthase kinase-3β,cyclin dependent protein kinase-5,calcium and calmodulin-dependent protein kinase-Ⅱ,cell division cycle 2,dual-specificity tyrosine-phosphorylation regulated kinase 1A and low density lipoprotein receptor-related protein 6; (3) MAPT/STH rs242562 genotype was correlated with AVLT-immediate recall,AVLT-delayed recall,Rey-Osterrieth Complex Test,Rey-Osterrieth Complex Test-delayed recall and Clock Drawing Test (H =9.763,12.258,10.508,9.624,10.767,F =3.700,3.123 and H =6.591 respectively,all P ＜ 0.05 ) ; (4) There were no differences in the distributions of MAPT/STH rs242562 GG genotype and ApoE ε4 haplotype between aMCI patients and normal controls.Conclusions MAPT/STH rs242562 GG genotype decreases the genetic risk of aMCI,which might have important role in memory function in aMCI.The interaction between rs242562 GG and ApoE ε4 doesn' t affect the susceptibility to aMCI.
