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Effects of ApoE genotype on clinical phenotypes in early‐onset and late‐onset Alzheimer's disease in China: Data from the PUMCH dementia cohort

INTRODUCTION: To investigate the heterogeneous effect of Apolipoprotein E (ApoE) genotype on clinical phenotypes in early‐onset Alzheimer's disease (EOAD) and late‐onset Alzheimer's disease (LOAD), respectively. METHODS: 785 probable AD patients were enrolled from the dementia cohort of Pe...

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Autores principales: Dong, Liling, Li, Jie, Liu, Caiyan, Mao, Chenhui, Wang, Jie, Lei, Dan, Huang, Xinying, Chu, Shanshan, Hou, Bo, Feng, Feng, Sha, Longze, Xu, Qi, Gao, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8613405/
https://www.ncbi.nlm.nih.gov/pubmed/34555265
http://dx.doi.org/10.1002/brb3.2373
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author Dong, Liling
Li, Jie
Liu, Caiyan
Mao, Chenhui
Wang, Jie
Lei, Dan
Huang, Xinying
Chu, Shanshan
Hou, Bo
Feng, Feng
Sha, Longze
Xu, Qi
Gao, Jing
author_facet Dong, Liling
Li, Jie
Liu, Caiyan
Mao, Chenhui
Wang, Jie
Lei, Dan
Huang, Xinying
Chu, Shanshan
Hou, Bo
Feng, Feng
Sha, Longze
Xu, Qi
Gao, Jing
author_sort Dong, Liling
collection PubMed
description INTRODUCTION: To investigate the heterogeneous effect of Apolipoprotein E (ApoE) genotype on clinical phenotypes in early‐onset Alzheimer's disease (EOAD) and late‐onset Alzheimer's disease (LOAD), respectively. METHODS: 785 probable AD patients were enrolled from the dementia cohort of Peking Union Medical College Hospital (PUMCH), China. There were 386 EOAD and 399 LOAD cases. All individuals finished history inquiry, neurological examination, blood biochemical test, neuropsychological screening test, electroencephalography, brain CT/MRI, and ApoE genotyping. Some participants had neuropsychological domain assessment (n = 317), MRI morphometry (n = 130), CSF testing of Aβ42, p‐tau, t‐tau (n = 144), or DNA sequencing (n = 690). The variables were compared mainly between ɛ4 carriers and non‐carriers in EOAD and LOAD, respectively. RESULTS: In LOAD, ɛ4 carriers showed female predominance; worse performance in trail making test, delayed recall of auditory verbal learning test (AVLT) and rey complex figure; smaller hippocampal, parahippocampal, and entorhinal volume, as compared to ɛ4 non‐carriers. In EOAD, ɛ4 carriers had lower scores in AVLT, episodic memory and modified Luria's tapping task; but less cortical atrophy in entorhinal, middle cingulate, inferior frontal, and parieto‐occipital regions, in comparison to ɛ4 non‐carriers. 6.2% (43/690) subjects harbored potential causative mutations in APP, PSEN1, and PSEN2. In both EOAD and LOAD, no differences were observed between ɛ4 carriers and non‐carriers in CSF levels of Aβ42, p‐tau, t‐tau, or mutation frequency. CONCLUSIONS: ApoE exerts a heterogeneous effect on clinical phenotypes in EOAD and LOAD, which might be related to the different genetic and pathological basis underlying them.
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spelling pubmed-86134052021-11-30 Effects of ApoE genotype on clinical phenotypes in early‐onset and late‐onset Alzheimer's disease in China: Data from the PUMCH dementia cohort Dong, Liling Li, Jie Liu, Caiyan Mao, Chenhui Wang, Jie Lei, Dan Huang, Xinying Chu, Shanshan Hou, Bo Feng, Feng Sha, Longze Xu, Qi Gao, Jing Brain Behav Original Articles INTRODUCTION: To investigate the heterogeneous effect of Apolipoprotein E (ApoE) genotype on clinical phenotypes in early‐onset Alzheimer's disease (EOAD) and late‐onset Alzheimer's disease (LOAD), respectively. METHODS: 785 probable AD patients were enrolled from the dementia cohort of Peking Union Medical College Hospital (PUMCH), China. There were 386 EOAD and 399 LOAD cases. All individuals finished history inquiry, neurological examination, blood biochemical test, neuropsychological screening test, electroencephalography, brain CT/MRI, and ApoE genotyping. Some participants had neuropsychological domain assessment (n = 317), MRI morphometry (n = 130), CSF testing of Aβ42, p‐tau, t‐tau (n = 144), or DNA sequencing (n = 690). The variables were compared mainly between ɛ4 carriers and non‐carriers in EOAD and LOAD, respectively. RESULTS: In LOAD, ɛ4 carriers showed female predominance; worse performance in trail making test, delayed recall of auditory verbal learning test (AVLT) and rey complex figure; smaller hippocampal, parahippocampal, and entorhinal volume, as compared to ɛ4 non‐carriers. In EOAD, ɛ4 carriers had lower scores in AVLT, episodic memory and modified Luria's tapping task; but less cortical atrophy in entorhinal, middle cingulate, inferior frontal, and parieto‐occipital regions, in comparison to ɛ4 non‐carriers. 6.2% (43/690) subjects harbored potential causative mutations in APP, PSEN1, and PSEN2. In both EOAD and LOAD, no differences were observed between ɛ4 carriers and non‐carriers in CSF levels of Aβ42, p‐tau, t‐tau, or mutation frequency. CONCLUSIONS: ApoE exerts a heterogeneous effect on clinical phenotypes in EOAD and LOAD, which might be related to the different genetic and pathological basis underlying them. John Wiley and Sons Inc. 2021-09-23 /pmc/articles/PMC8613405/ /pubmed/34555265 http://dx.doi.org/10.1002/brb3.2373 Text en © 2021 The Authors. Brain and Behavior published by Wiley Periodicals LLC https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Dong, Liling
Li, Jie
Liu, Caiyan
Mao, Chenhui
Wang, Jie
Lei, Dan
Huang, Xinying
Chu, Shanshan
Hou, Bo
Feng, Feng
Sha, Longze
Xu, Qi
Gao, Jing
Effects of ApoE genotype on clinical phenotypes in early‐onset and late‐onset Alzheimer's disease in China: Data from the PUMCH dementia cohort
title Effects of ApoE genotype on clinical phenotypes in early‐onset and late‐onset Alzheimer's disease in China: Data from the PUMCH dementia cohort
title_full Effects of ApoE genotype on clinical phenotypes in early‐onset and late‐onset Alzheimer's disease in China: Data from the PUMCH dementia cohort
title_fullStr Effects of ApoE genotype on clinical phenotypes in early‐onset and late‐onset Alzheimer's disease in China: Data from the PUMCH dementia cohort
title_full_unstemmed Effects of ApoE genotype on clinical phenotypes in early‐onset and late‐onset Alzheimer's disease in China: Data from the PUMCH dementia cohort
title_short Effects of ApoE genotype on clinical phenotypes in early‐onset and late‐onset Alzheimer's disease in China: Data from the PUMCH dementia cohort
title_sort effects of apoe genotype on clinical phenotypes in early‐onset and late‐onset alzheimer's disease in china: data from the pumch dementia cohort
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8613405/
https://www.ncbi.nlm.nih.gov/pubmed/34555265
http://dx.doi.org/10.1002/brb3.2373
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