摘要
目的:探索APOEε4基因携带状态在中国人群中阿尔茨海默病(Alzheimer's disease,AD)患者脑内淀粉样蛋白沉积情况的影响。方法:回顾性收集2018年8月至2023年3月复旦大学附属华山医院记忆门诊就诊的认知正常人群、临床诊断为轻度认知受损和AD患者共932例,认知正常组532例,认知受损组400例,其中包括轻度认知受损211例、AD患者189例,对所有受试者进行认知评估、基因型测定、18F-氟贝他吡PET成像定量分析Aβ在大脑中的沉积情况并转换为centiloid值,以认知情况、APOEε4基因携带状态、性别等分组,比较各组的centiloid值的差异,并对APOEε4基因携带组和非携带组centiloid值和认知得分进行偏相关分析。结果:APOEε4基因携带组的centiloid值较非携带组高,并且差异具有显著性(26.7±38.3 vs 3.7±26.6,P<0.001);在认知受损人群中,男性和女性APOE?4基因携带组的centiloid值均比同性别非携带组高(36.2±40.3 vs 9.7±30.7,39.2±37.5 vs 17.7±38.8,P<0.001),但在认知受损的携带者或非携带者中,男性与女性centiloid值均无显著差异(36.2±40.3 vs 39.2±37.5,9.7±30.7 vs 17.7±38.8,P > 0.05)。认知正常组与认知受损组的centiloid值的差异有统计学意义(0.2±21.0 vs 23.5±38.6,P<0.001);在认知受损或认知正常的受试者中,APOE?4携带者与非携带者的centiloid值均有显著差异(P<0.001);在APOEε4基因携带或非携带者中,认知受损人群与认知正常人群centiloid值差异亦显著(P<0.001)。在控制年龄、教育年限、性别的影响下,APOE?4基因携带组和非携带组的centiloid值与认知得分都有中等强度的负相关(r分别为-0.435和-0.449,P<0.001)。结论:APOEε4基因携带者的脑内淀粉样蛋白沉积较非携带者明显增高,APOE?4基因携带者与非携带者脑内淀粉样蛋白沉积与认知有负相关关系。
Objective:To explore the effect of APOEɛ4 gene carrier status on amyloid deposition in the brain of Alzheimer's disease patients in Chinese population.Methods:A retrospective collection was conducted on 932 cognitively normal individuals and patients diagnosed with mild cognitive impairment or Alzheimer's disease who visited the Memory Clinic of Huashan Hospital affiliated with Fudan University from August 2018 to March 2023.Among them,there were 532 cognitive normal individuals and 400 cognitive impaired individuals,including 211 mild cognitive impairment and 189 Alzheimer's disease patients.All participants were subjected to cognitive assessment,genotype determination,and[18F]Florbetapir PET imaging quantitative analysis of Aβdeposition in the brain,which is converted into centiloid value.The centiloid value of each group were compared based on cognitive status,APOEɛ4 gene carrying status,gender,and other factors.Performing partial correlation analysis on the centiloid value and cognitive scores of APOEɛ4 gene carrying or non carrying group.Results:The centiloid value of the APOEɛ4 gene carrying group is higher than that of the non carrying group,and the difference is significant(26.7±38.3 vs 3.7±26.6,P<0.001).In the population with cognitive impaired,the centiloid value of both male and female APOEɛ4 gene carriers were higher than those of non carriers of the same gender(36.2±40.3 vs 9.7±30.7,39.2±37.5 vs 17.7±38.8,respectively,P<0.001).However,there is no significant difference in centiloid value between males and females in carriers or non carriers with cognitive impaired(36.2±40.3 vs 39.2±37.5,9.7±30.7 vs 17.7±38.8,P>0.05).The difference in centiloid value between the cognitive normal group and the cognitive impaired group is statistically significant(0.2±21.0 vs 23.5±38.6,P<0.001).In subjects with cognitive impaired or cognitive normal,there is a significant difference in centiloid value between APOEε4 carriers and non carriers(P<0.001).The difference in centiloid value between cognitive impaired and cognitive normal populations is also significant(P<0.001)in APOEε4 gene carriers or non carriers.Under the control of age,education year,and gender,there is a moderate negative correlation between the centiloid value and cognitive scores in both the APOEɛ4 gene carrying and non carrying groups(r=-0.435 and-0.449,respectively,P<0.001).Conclusion:The deposition of amyloid protein in the brain of APOEɛ4 gene carriers is significantly higher than that of non carriers,and there is a negative correlation between amyloid protein deposition and cognition in APOEɛ4 gene carriers and non carriers..
作者
宋汶霖
何坤
黄琪
谢芳
管一晖
Wenlin SONG;Kun HE;Qi HUANG;Fang XIE;Yihui GUAN(Department of PET Center,Huashan Hospital,Fudan University,Shanghai,200030,China)
出处
《阿尔茨海默病及相关病杂志》
2025年第4期226-230,共5页
Chinese Journal of Alzheimer's Disease and Related Disorders
基金
国家自然科学基金项目(82201583)
科技创新2030-重大项目(2022ZD0213800)。
