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

Abstract

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.

• Authors: Longfei Jia, Hui Xu, Shuoqi Chen, Xiu Wang, Jianwei Yang, Min Gong, Cuibai Wei, Yi Tang, Qiumin Qu, Lan Chu, Lu Shen, Chunkui Zhou, Qi Wang, Tan Zhao, Aihong Zhou, Ying Li, Fangyu Li, Yan Li, Hongmei Jin, Qi Qin, Haishan Jiao, Yan Li, Heng Zhang, Diyang Lyu, Yuqing Shi, Yang Song, Jianping Jia
• Journal: Alzheimer's & dementia : the journal of the Alzheimer's Association (Alzheimers Dement) Vol. 16 Issue 12 Pg. 1613-1623 (12 2020) ISSN: 1552-5279 [Electronic] United States
• PMID: 32881347 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2020 The Authors. Alzheimer's & Dementia published by Wiley Periodicals, Inc. on behalf of Alzheimer's Association.

Chemical References

• Apolipoprotein E4

Topics

• Aged
• Alzheimer Disease (classification, genetics)
• Apolipoprotein E4 (genetics)
• China
• Female
• Genetic Predisposition to Disease
• Genotype
• Humans
• Male
• Middle Aged
• Mutation (genetics)
• Risk Factors