R47H TREM2 variant increases risk of typical early‐onset Alzheimer's disease but not of prion or frontotemporal dementia

Slattery, Catherine F.; Beck, Jonathan A.; Harper, Lorna; Adamson, Gary; Abdi, Zeinab; Uphill, James; Campbell, Tracy; Druyeh, Ron; Mahoney, Colin J.; Rohrer, Jonathan D.; Kenny, Janna; Lowe, Jessica; Leung, Kelvin K.; Barnes, Josephine; Clegg, Shona L.; Blair, Melanie; Nicholas, Jennifer M.; Guerreiro, Rita J.; Rowe, James B.; Ponto, Claudia; Zerr, Inga; Kretzschmar, Hans; Gambetti, Pierluigi; Crutch, Sebastian J.; Warren, Jason D.; Rossor, Martin N.; Fox, Nick C.; Collinge, John; Schott, Jonathan M.; Mead, Simon

doi:10.1016/j.jalz.2014.05.1751

Cited by 120Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchNeuroinflammation and Neurodegeneration Mechanisms

R47H TREM2 variant increases risk of typical early‐onset Alzheimer's disease but not of prion or frontotemporal dementia

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Slattery, Catherine F., Beck, Jonathan A., Harper, Lorna, Adamson, Gary, Abdi, Zeinab, Uphill, James, Campbell, Tracy, Druyeh, Ron +22 more·2014·Alzheimer's & Dementia

DOI 10.1016/j.jalz.2014.05.1751PMC PMC4627504

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Abstract

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.
“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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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
DOI: 10.1016/j.jalz.2014.05.1751
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
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
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: 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: 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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R47H TREM2 variant increases risk of typical early‐onset Alzheimer's disease but not of prion or frontotemporal dementia

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