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

Abstract 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 cohor...

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Autores principales: Liling Dong, Jie Li, Caiyan Liu, Chenhui Mao, Jie Wang, Dan Lei, Xinying Huang, Shanshan Chu, Bo Hou, Feng Feng, Longze Sha, Qi Xu, Jing Gao
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Publicado: Wiley 2021
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spelling oai:doaj.org-article:76fb68c2db6742f3a15dff6ad5473f972021-11-25T06:06:36ZEffects of ApoE genotype on clinical phenotypes in early‐onset and late‐onset Alzheimer's disease in China: Data from the PUMCH dementia cohort2162-327910.1002/brb3.2373https://doaj.org/article/76fb68c2db6742f3a15dff6ad5473f972021-11-01T00:00:00Zhttps://doi.org/10.1002/brb3.2373https://doaj.org/toc/2162-3279Abstract 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.Liling DongJie LiCaiyan LiuChenhui MaoJie WangDan LeiXinying HuangShanshan ChuBo HouFeng FengLongze ShaQi XuJing GaoWileyarticleApoEcognitive functioncortical atrophyearly‐onset Alzheimer's diseaselate‐onset Alzheimer's diseasetau burdenNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571ENBrain and Behavior, Vol 11, Iss 11, Pp n/a-n/a (2021)
institution DOAJ
collection DOAJ
language EN
topic ApoE
cognitive function
cortical atrophy
early‐onset Alzheimer's disease
late‐onset Alzheimer's disease
tau burden
Neurosciences. Biological psychiatry. Neuropsychiatry
RC321-571
spellingShingle ApoE
cognitive function
cortical atrophy
early‐onset Alzheimer's disease
late‐onset Alzheimer's disease
tau burden
Neurosciences. Biological psychiatry. Neuropsychiatry
RC321-571
Liling Dong
Jie Li
Caiyan Liu
Chenhui Mao
Jie Wang
Dan Lei
Xinying Huang
Shanshan Chu
Bo Hou
Feng Feng
Longze Sha
Qi Xu
Jing Gao
Effects of ApoE genotype on clinical phenotypes in early‐onset and late‐onset Alzheimer's disease in China: Data from the PUMCH dementia cohort
description Abstract 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.
format article
author Liling Dong
Jie Li
Caiyan Liu
Chenhui Mao
Jie Wang
Dan Lei
Xinying Huang
Shanshan Chu
Bo Hou
Feng Feng
Longze Sha
Qi Xu
Jing Gao
author_facet Liling Dong
Jie Li
Caiyan Liu
Chenhui Mao
Jie Wang
Dan Lei
Xinying Huang
Shanshan Chu
Bo Hou
Feng Feng
Longze Sha
Qi Xu
Jing Gao
author_sort Liling Dong
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_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_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_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
publisher Wiley
publishDate 2021
url https://doaj.org/article/76fb68c2db6742f3a15dff6ad5473f97
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