Genes, pathways and risk prediction in Alzheimer’s disease
Open accessAbstract
The failure of recent clinical trials in Alzheimer's disease has highlighted the need for the development of a more complete understanding of the pathogenesis of the disorder and also a belief that therapies may only work if given very early in the disease process before overt symptoms occur. The rare, early onset forms of the disease are all caused by mutations which make amyloid deposition a more likely event. Here we discuss the recent data showing that, in contrast, much of the risk of late onset disease is encoded by loci involved in lipid metabolism and/or encoded by microglia. We discuss these finding and suggest that amyloid induced membrane damage may be a key factor in disease and also review the evidence that genome wide genetic analysis can substantially help in the prediction of those individuals at high risk of disease in the general population.
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Large-scale genetic association studies have identified Alzheimer's disease risk variants in a growing list of microglia-related genes.
“The importance of microglia in Alzheimer’s disease (AD) pathogenesis has been demonstrated by large-scale genetic association studies, which have identified AD risk variants in a growing list of microglia-related genes1–4.”
From Somatic cancer variants enriched in Alzheimer’s disease microglia-like cells drive inflammatory and proliferative states (2026) · cites this paper as [3]
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Abstracts of the 41st SIF National Congress
AA.VV., A. V. (2023) · doi:10.36118/pharmadvances.2023.50
- Authors
- Hardy, J., & Escott-Price, V.
- Affiliations
- UK Dementia Research Institute (GB)
- Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences and Dementia Research Institute, Cardiff University, Cardiff, UK
- Corresponding author
- Hardy, John
- ORCID
- Hardy, John
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2019-09-30
- Volume
- 28
- Issue
- R2
- Pages
- R235-R240
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2963956782
- Cited by
- 27
- References
- 59
- Citations by year
- 2025: 1 · 2024: 4 · 2023: 6 · 2022: 6 · 2021: 8 · 2020: 2
- FWCI
- 0.47
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model (am)
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Funders
- UK Dementia Research Institute
- 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 › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Keywords
- Alzheimer's disease, late-onset Alzheimer's disease, genetic risk prediction, lipid metabolism genes, microglia, amyloid deposition, genome-wide association study, pathogenesis, genetic susceptibility loci
- MeSH terms
- Alzheimer Disease, Apolipoproteins E, Brain, Epistasis, Genetic, Humans, Risk Factors, Amyloid beta-Peptides, Genetic Predisposition to Disease, White People, Lipid Metabolism, Presenilin-1, Presenilin-2, Genome-Wide Association Study
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