A Brief Synopsis on the Genetics of Alzheimer’s Disease
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Several known AD susceptibility genes associated with late-onset AD have been linked to alterations in peripheral immune cell function rather than microglial activation.
“Notably, several of the known AD susceptibility genes that are associated with late-onset AD have been linked to alterations in peripheral immune cell function rather than microglial activation.20,21”
From TET2-mutant myeloid cells mitigate Alzheimer’s disease progression via CNS infiltration and enhanced phagocytosis in mice (2025) · cites this paper as [21]
The main text and Table 1 (page unavailable) identify several susceptibility genes for late-onset AD. They do not link those genes to altered peripheral immune cell function rather than microglial activation; a reference title instead mentions microglial-mediated innate immunity. (LLM, conf=0.84)
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Naj, A. C., Jun, G., Beecham, G. W., Wang, L.-S., Vardarajan, B. N., Buros, J., Gallins, P. J., Buxbaum, J. D., Jarvik, G. P., Crane, P. K., et al. (2011) · Nature Genetics · doi:10.1038/ng.801 · Cited by 1,901 · see citing works
Self-citationA mutation in APP protects against Alzheimer’s disease and age-related cognitive decline
Jonsson, T., Atwal, J. K., Steinberg, S., Snaedal, J., Jonsson, P. V., Bjornsson, S., Stefansson, H., Sulem, P., Gudbjartsson, D., Maloney, J., et al. (2012) · Nature · doi:10.1038/nature11283 · Cited by 1,738 · see citing works
ARUK Consortium, Sims, R., GERAD/PERADES, C., van der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., Kunkle, B. W., Boland, A., et al. (2017) · Nature Genetics · doi:10.1038/ng.3916 · Cited by 1,126 · see citing works
Self-citationLanoiselée, H.-M., Nicolas, G., Wallon, D., Rovelet-Lecrux, A., Lacour, M., Rousseau, S., Richard, A.-C., Pasquier, F., Rollin-Sillaire, A., Martinaud, O., et al. (2017) · PLOS Medicine · doi:10.1371/journal.pmed.1002270 · Cited by 616 · see citing works
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease
Cruchaga, C., Karch, C. M., Jin, S. C., Benitez, B. A., Cai, Y., Guerreiro, R., Harari, O., Norton, J., Budde, J., Bertelsen, S., et al. (2014) · Nature · doi:10.1038/nature12825 · Cited by 461 · see citing works
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“Genome-wide association studies (GWAS) allowed the detection of more than 40 susceptibility gene variants associated with a bigger risk of developing late-onset AD (88).”
BackgroundInterpretation of risk loci from genome-wide association studies of Alzheimer's disease
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- Authors
- Kamboh, M. I.
- Affiliations
- University of Pittsburgh (US)
- Corresponding author
- Kamboh, M. Ilyas
- ORCID
- Kamboh, M. Ilyas
- Venue
- Current Genetic Medicine Reports
- Published
- 2018-10-30
- Volume
- 6
- Issue
- 4
- Pages
- 133-135
- ISSN
- 2167-4876 (ISSN-L)
- PMC
- PMC6223698
- OpenAlex
- W2898761798
- Cited by
- 26
- References
- 5
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 1 · 2022: 6 · 2021: 3 · 2020: 8 · 2019: 3
- FWCI
- 2.41
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Current Genetic Medicine Reports (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- National Institute on Aging (R01AG041718, P50AG005133, R01AG030653)
- 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 susceptibility, familial Alzheimer's disease, sporadic Alzheimer's disease
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