Association of Polygenic Risk Score with Age at Onset and Cerebrospinal Fluid Biomarkers of Alzheimer’s Disease in a Chinese Cohort

Li, Weiwei; Wang, Zhen; Fan, Dong-Yu; Shen, Yujie; Chen, Dong-Wan; Li, Huiyun; Li, Ling; Yang, Heng; Liu, Yuhui; Bu, Xian‐Le; Jin, Wang-Sheng; Zeng, Fan; Xu, Zhi‐Qiang; Yu, Jin‐Tai; Chen, Li‐Yong; Wang, Yanjiang

doi:10.1007/s12264-020-00469-8

Cited by 19 publications

(18 citation statements)

References 36 publications

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“…Therefore, we should include more factors to improve the prediction efficiency in the future. Fifth, previous studies have identified some risk genes for AD, such as APOE , BIN1 , CD33 , EPHA1 , SORL1 , TOMM40 and so on 43‐45 . We only tested APP , PSEN1 , PSEN2 , TREM2 , and SORL1 mutations in our study and did not test the deletion/duplication, which may lead to the loss of genetic information.…”

Section: Discussionmentioning

confidence: 99%

“…Fifth, previous studies have identified some risk genes for AD, such as APOE, BIN1, CD33, EPHA1, SORL1, TOMM40 and so on. [43][44][45] We only tested APP, PSEN1, PSEN2, TREM2, and SORL1 mutations in our study and did not test the deletion/duplication, which may lead to the loss of genetic information. We will include this content in future research.…”

Section: F I G U R Ementioning

confidence: 99%

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

Jia

Chen

et al. 2020

Alzheimer's & Dementia

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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. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

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Section: Discussionmentioning

confidence: 99%

Section: F I G U R Ementioning

confidence: 99%

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

Jia

Chen

et al. 2020

Alzheimer's & Dementia

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“…The clinical evaluation was performed by following the protocol described in our previous studies 18 . In brief, demographic data including age, sex, education level and occupation were collected on admission.…”

Section: Clinical Assessmentmentioning

confidence: 99%

Amyloid-beta uptake by blood monocytes is reduced with ageing and Alzheimer’s disease

et al. 2020

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Deficits in the clearance of amyloid β-protein (Aβ) play a pivotal role in the pathogenesis of sporadic Alzheimer’s disease (AD). The roles of blood monocytes in the development of AD remain unclear. In this study, we sought to investigate the alterations in the Aβ phagocytosis function of peripheral monocytes during ageing and in AD patients. A total of 104 cognitively normal participants aged 22–89 years, 24 AD patients, 25 age- and sex-matched cognitively normal (CN) subjects, 15 Parkinson’s disease patients (PD), and 15 age- and sex-matched CN subjects were recruited. The Aβ uptake by blood monocytes was measured and its alteration during ageing and in AD patients were investigated. Aβ1-42 uptake by monocytes decreased during ageing and further decreased in AD but not in PD patients. Aβ1-42 uptake by monocytes was associated with Aβ1-42 levels in the blood. Among the Aβ uptake-related receptors and enzymes, the expression of Toll-like receptor 2 (TLR2) was reduced in monocytes from AD patients. Our findings suggest that monocytes regulate the blood levels of Aβ and might be involved in the development of AD. The recovery of the Aβ uptake function by blood monocytes represents a potential therapeutic strategy for AD.

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“…Substantial evidence indicates that genetic risk factors are involved in AD endophenotypes. 56 , 57 To investigate the role of VaD‐associated genes in AD endophenotypes, we performed AAO and MMSE association studies. We found that variants in GSN , ITM2B , and COL4A1 were nominally associated with AAO and that variants in GSN and ITM2B exhibited suggestive associations with MMSE scores.…”

Section: Discussionmentioning

confidence: 99%

The role of vascular dementia associated genes in patients with Alzheimer's disease: A large case–control study in the Chinese population

et al. 2021

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Association of Polygenic Risk Score with Age at Onset and Cerebrospinal Fluid Biomarkers of Alzheimer’s Disease in a Chinese Cohort

Cited by 19 publications

References 36 publications

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

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

Amyloid-beta uptake by blood monocytes is reduced with ageing and Alzheimer’s disease

The role of vascular dementia associated genes in patients with Alzheimer's disease: A large case–control study in the Chinese population

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