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The APOE ε4 exerts differential effects on familial and other subtypes of Alzheimer's disease

INTRODUCTION: The genetic risk effects of apolipoprotein E (APOE) on familial Alzheimer's disease (FAD) with or without gene mutations, sporadic AD (SAD), and normal controls (NC) remain unclear in the Chinese population. METHODS: In total, 15 119 subjects, including 311 FAD patients without PS...

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Detalles Bibliográficos
Autores principales: Jia, Longfei, Xu, Hui, Chen, Shuoqi, Wang, Xiu, Yang, Jianwei, Gong, Min, Wei, Cuibai, Tang, Yi, Qu, Qiumin, Chu, Lan, Shen, Lu, Zhou, Chunkui, Wang, Qi, Zhao, Tan, Zhou, Aihong, Li, Ying, Li, Fangyu, Li, Yan, Jin, Hongmei, Qin, Qi, Jiao, Haishan, Zhang, Heng, Lyu, Diyang, Shi, Yuqing, Song, Yang, Jia, Jianping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7984370/
https://www.ncbi.nlm.nih.gov/pubmed/32881347
http://dx.doi.org/10.1002/alz.12153
Descripción
Sumario:INTRODUCTION: The genetic risk effects of apolipoprotein E (APOE) on familial Alzheimer's disease (FAD) with or without gene mutations, sporadic AD (SAD), and normal controls (NC) remain unclear in the Chinese population. METHODS: In total, 15 119 subjects, including 311 FAD patients without PSEN1, PSEN2, APP, TREM2, and SORL1 pathogenic mutations (FAD [unknown]); 126 FAD patients with PSENs/APP mutations (FAD [PSENs/APP]); 7234 SAD patients; and 7448 NC were enrolled. The risk effects of APOE ε4 were analyzed across groups. RESULTS: The prevalence of the APOE ε4 genotype in FAD (unknown), FAD (PSENs/APP), SAD, and NC groups was 56.27%, 26.19%, 36.23%, and 19.54%, respectively. Further, the APOE ε4 positive genotype had predictive power for FAD (unknown) risk (odds ratio: 4.51, 95% confidence interval: 3.57–5.45, P < .001). DISCUSSION: APOE ε4 positive genotype may cause familial aggregation, and the investigation of multiple interventions targeting APOE pathological function to reduce the risk for this disease warrants attention.