Longfei Jia1, Hui Xu1, Shuoqi Chen1, Xiu Wang1, Jianwei Yang1, Min Gong1, Cuibai Wei1, Yi Tang1, Qiumin Qu2, Lan Chu3, Lu Shen4, Chunkui Zhou5, Qi Wang1, Tan Zhao1, Aihong Zhou1, Ying Li1, Fangyu Li1, Yan Li1, Hongmei Jin1, Qi Qin1, Haishan Jiao1, Yan Li1, Heng Zhang1, Diyang Lyu1, Yuqing Shi1, Yang Song1, Jianping Jia1,6,7,8. 1. Innovation Center for Neurological Disorders and Department of Neurology, Xuanwu Hospital, Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China. 2. Department of Neurology, The First Affiliated Hospital of Xi'an Jiaotong University, Xian, China. 3. Department of Neurology, The Affiliated Hospital of Guizhou Medical University, Guiyang, China. 4. Department of Neurology, Xiangya Hospital Central South University, Changsha, China. 5. Department of Neurology, The First Teaching Hospital of Jilin University, Changchun, China. 6. Beijing Key Laboratory of Geriatric Cognitive Disorders, Beijing, China. 7. Clinical Center for Neurodegenerative Disease and Memory Impairment, Capital Medical University, Beijing, China. 8. Center of Alzheimer's Disease, Beijing Institute for Brain Disorders, Beijing, China.
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.
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 FADpatients without PSEN1, PSEN2, APP, TREM2, and SORL1 pathogenic mutations (FAD [unknown]); 126 FADpatients with PSENs/APP mutations (FAD [PSENs/APP]); 7234 SADpatients; 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: Matthew K Taylor; Debra K Sullivan; Jessica E Keller; Jeffrey M Burns; Russell H Swerdlow Journal: Front Neurosci Date: 2022-06-16 Impact factor: 5.152
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