Associations of Alzheimer’s disease risk variants with gene expression, amyloidosis, tauopathy, and neurodegeneration
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Background: Genome-wide association studies have identified more than 30 Alzheimer’s disease (AD) risk genes, although the detailed mechanism through which all these genes are associated with AD pathogenesis remains unknown. We comprehensively evaluate the roles of the variants in top 30 non-APOE AD risk genes, based on whether these variants were associated with altered mRNA transcript levels, as well as brain amyloidosis, tauopathy, and neurodegeneration. Methods: Human brain gene expression data were obtained from the UK Brain Expression Consortium (UKBEC), while other data used in our study were obtained from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) cohort. We examined the association of AD risk allele carrier status with the levels of gene expression in blood and brain regions and tested the association with brain amyloidosis, tauopathy, and neurodegeneration at baseline, using a multivariable linear regression model. Next, we analyzed the longitudinal effects of these variants on the change rates of pathology using a mixed effect model. Results: Altogether, 27 variants were detected to be associated with the altered expression of 21 nearby genes in blood and brain regions. Eleven variants (especially novel variants in ADAM10, IGHV1-68, and SLC24A4/RIN3) were associated with brain amyloidosis, 7 variants (especially in INPP5D, PTK2B) with brain tauopathy, and 8 variants (especially in ECHDC3, HS3ST1) with brain neurodegeneration. Variants in ADAMTS1, BZRAP1-AS1, CELF1, CD2AP, and SLC24A4/RIN3 participated in more than one cerebral pathological process. Conclusions: Genetic variants might play functional roles and suggest potential mechanisms in AD pathogenesis, which opens doors to uncover novel targets for AD treatment.
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INPP5D/SHIP1 is a myeloid-expressed gene genetically associated with Alzheimer's disease.
“Inositol polyphosphate-5-phosphatase D (INPP5D/SHIP1) is a myeloid-expressed gene genetically-associated with AD.”
From INPP5D regulates inflammasome activation in human microglia (2023) · cites this paper as [18]
The Results (Association of variants with brain tauopathy; page unavailable) identify an INPP5D variant among AD risk alleles and report its association with altered CSF pTau levels. The paper does not state that INPP5D is myeloid-expressed or identify it as SHIP1. (LLM, conf=0.85)
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Exosomal mRNA Signatures as Predictive Biomarkers for Risk and Age of Onset in Alzheimer’s Disease
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Microglial CD2AP deficiency exerts protection in an Alzheimer’s disease model of amyloidosis
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The relationship of early- and late-onset Alzheimer’s disease genes with COVID-19
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INPP5D/SHIP1 regulates inflammasome activation in human microglia
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Advances in Alzheimer’s disease: mechanistic insights and therapeutic targets
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Loss of Smek1 Induces Tauopathy and Triggers Neurodegeneration by Regulating Microtubule Stability
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PathoAnalyzer-I: An Integrative Bioinformatics Platform for Chronic Disease Analysis
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- Authors
- Initiative, A. D. N., Tan, M.-S., Yang, Y.-X., Xu, W., Wang, H.-F., Tan, L., Zuo, C.-T., Dong, Q., Tan, L., Suckling, J., & Yu, J.-T.
- Affiliations
- University of Cambridge (GB)
- Qingdao University (CN)
- Shanghai Medical College of Fudan University (CN)
- Corresponding author
- Yu, Jin-Tai
- Venue
- Alzheimer's Research & Therapy
- Published
- 2021-01-08
- Volume
- 13
- Issue
- 1
- Pages
- 15-15
- ISSN
- 1758-9193 (ISSN-L)
- PMC
- PMC7792349
- OpenAlex
- W3119287108
- Cited by
- 71
- References
- 50
- Citations by year
- 2026: 10 · 2025: 6 · 2024: 16 · 2023: 17 · 2022: 14 · 2021: 8
- FWCI
- 8.64
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Alzheimer s Research & Therapy (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Apollo (University of Cambridge) (submittedVersion, cc-by)
- Apollo (cc-by)
- Funders
- National Natural Science Foundation of China (91849126)
- National Key R&D Program of China (2018YFC1314700)
- Taishan Scholar Project of Shandong Province (tsqn20161078)
- Shanghai Municipal Science and Technology Major Project (No.2018SHZDZX01)
- ZHANGJIANG LAB, Tianqiao and Chrissy Chen Institute, and the State Key Laboratory of Neurobiology and Frontiers Center for Brain Science of Ministry of Education, Fudan University
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- Alzheimer's disease, genetic risk variants, gene expression, cerebral amyloidosis, tauopathy, neurodegeneration, ADAM10, INPP5D, Pyk2, ADAMTS1, CELF1, CD2AP, blood gene expression, brain gene expression, Alzheimer's disease pathogenesis
- MeSH terms
- Alzheimer Disease, Amyloidosis, Humans, Gene Expression, Tauopathies, Genome-Wide Association Study
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