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R47H TREM2 variant increases risk of typical early‐onset Alzheimer's disease but not of prion or frontotemporal dementia
Open accessAbstract
Background: Rare TREM2 variants are significant risk factors for Alzheimer's disease (AD). Methods: We used next generation sequencing of the whole gene (n = 700), exon 2 Sanger sequencing (n = 2634), p.R47H genotyping (n = 3518), and genome wide association study imputation (n = 13,048) to determine whether TREM2 variants are risk factors or phenotypic modifiers in patients with AD (n = 1002), frontotemporal dementia (n = 358), sporadic (n = 2500), and variant (n = 115) Creutzfeldt‐Jakob disease (CJD). Results: We confirm only p.R47H as a risk factor for AD (odds ratio or OR = 2.19; 95% confidence interval or CI = 1.04‐4.51; P = .03). p.R47H does not significantly alter risk for frontotemporal dementia (OR = 0.81), variant or sporadic CJD (OR = 1.06 95%CI = 0.66‐1.69) in our cohorts. Individuals with p.R47H associated AD (n = 12) had significantly earlier symptom onset than individuals with no TREM2 variants (n = 551) (55.2 years vs. 61.7 years, P = .02). We note that heterozygous p.R47H AD is memory led and otherwise indistinguishable from “typical” sporadic AD. Conclusion: We find p.R47H is a risk factor for AD, but not frontotemporal dementia or prion disease.
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“R47H is clearly linked to an increased risk of AD [40, 41]”
From TREM2/PLCγ2 signalling in immune cells: function, structural insight, and potential therapeutic modulation (2021) · cites this paper as [41]
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Metadata
- Authors
- Slattery, C. F., Beck, J. A., Harper, L., Adamson, G., Abdi, Z., Uphill, J., Campbell, T., Druyeh, R., Mahoney, C. J., Rohrer, J. D., Kenny, J., Lowe, J., Leung, K. K., Barnes, J., Clegg, S. L., Blair, M., Nicholas, J. M., Guerreiro, R. J., Rowe, J. B., Ponto, C., Zerr, I., Kretzschmar, H., Gambetti, P., Crutch, S. J., Warren, J. D., Rossor, M. N., Fox, N. C., Collinge, J., Schott, J. M., & Mead, S.
- Affiliations
- UCL Queen Square Institute of Neurology (GB)
- Department of Neurodegenerative Disease MRC Prion Unit, UCL Institute of Neurology London UK
- MRC Prion Unit (GB)
- London School of Hygiene & Tropical Medicine (GB)
- University of Cambridge (GB)
- University of Göttingen (DE)
- Institut für Neuropathologie (DE)
- Case Western Reserve University (US)
- Corresponding author
- Mead, Simon
- ORCID
- Abdi, Zeinab
- Campbell, Tracy
- Mahoney, Colin J.
- Rohrer, Jonathan D.
- Kenny, Janna
- Lowe, Jessica
- Barnes, Josephine
- Clegg, Shona L.
- Blair, Melanie
- Nicholas, Jennifer M.
- Guerreiro, Rita J.
- Rowe, James B.
- Zerr, Inga
- Gambetti, Pierluigi
- Crutch, Sebastian J.
- Warren, Jason D.
- Rossor, Martin N.
- Fox, Nick C.
- Collinge, John
- Schott, Jonathan M.
- Mead, Simon
- Venue
- Alzheimer's & Dementia
- Publisher
- Wiley
- Published
- 2014-08-23
- Volume
- 10
- Issue
- 6
- Pages
- 602
- ISSN
- 1552-5260 (ISSN-L)
- 1552-5279
- PMC
- PMC4627504
- OpenAlex
- W1973742293
- Cited by
- 119
- References
- 40
- Citations by year
- 2026: 7 · 2025: 10 · 2024: 5 · 2023: 8 · 2022: 14 · 2021: 12 · 2020: 7 · 2019: 14 · 2018: 11 · 2017: 13 · 2016: 7 · 2015: 10
- FWCI
- 6.67
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Alzheimer s & Dementia (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- GRO (submittedVersion)
- Funders
- Medical Research Council
- Alzheimer's Research
- NIHR Queen Square Dementia Biomedical Research Unit
- Leonard Wolfson Experimental Neurology Centre
- University College London Hospitals NHS Trust Biomedical Research Centre
- MRC (G0000934)
- Wellcome Trust (068545/Z/02, 088324)
- Brain Research Trust
- Wellcome Trust Senior Clinical Fellowship (091673/Z/10/Z)
- NIHR Cambridge Biomedical Research Centre
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › 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
- TREM2
- MeSH terms
- Aged, Aged, 80 and over, Alzheimer Disease, Arginine, Brain, Exons, Female, Genotype, Histidine, Humans, Creutzfeldt-Jakob Syndrome, Male, Membrane Glycoproteins, Middle Aged, Phenotype, Receptors, Immunologic, Risk Factors, Genetic Variation, Cohort Studies, Genetic Predisposition to Disease, Genome-Wide Association Study, Frontotemporal Dementia
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