Cited by 246Neuroinflammation and Neurodegeneration MechanismsAlzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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The role of TREM2 in Alzheimer's disease and other neurodegenerative disorders

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Carmona, Susana, Zahs, Kathleen, Wu, Elizabeth, Dakin, Kelly, Bras, Jose, Guerreiro, Rita·2018·The Lancet Neurology

DOI 10.1016/s1474-4422(18)30232-1

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Abstract

Alzheimer's disease is a genetically complex disorder; rare variants in the triggering receptor expressed on myeloid cells 2 (TREM2) gene have been shown to as much as triple an individual's risk of developing Alzheimer's disease. TREM2 is a transmembrane receptor expressed in cells of the myeloid lineage, and its association with Alzheimer's disease supports the involvement of immune and inflammatory pathways in the cause of the disease, rather than as a consequence of the disease. TREM2 variants associated with Alzheimer's disease induce partial loss of function of the TREM2 protein and alter the behaviour of microglial cells, including their response to amyloid plaques. TREM2 variants have also been shown to cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy and frontotemporal dementia. Although the low frequency of TREM2 variants makes it difficult to establish robust genotype-phenotype correlations, such studies are essential to enable a comprehensive understanding of the role of TREM2 in different neurological diseases, with the ultimate goal of developing novel therapeutic approaches.

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Self-citation
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“In addition, homozygous TREM2 variants were also found to be potentially casual for a form of FTD (Carmona et al., 2018; Chouery et al., 2008; Guerreiro et al., 2013a), while other variants significantly elevated FTD risk (Carmona et al.”
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Authors: Carmona, S., Zahs, K., Wu, E., Dakin, K., Bras, J., & Guerreiro, R.
Affiliations: UK Dementia Research Institute (GB)
Alzforum (US)
Corresponding author: Guerreiro, Rita
ORCID: Carmona, Susana
Zahs, Kathleen
Wu, Elizabeth
Guerreiro, Rita
Venue: The Lancet Neurology
Publisher: Elsevier BV
Published: 2018-08
Volume: 17
Issue: 8
Pages: 721-730
ISSN: 1474-4422 (ISSN-L)
DOI: 10.1016/s1474-4422(18)30232-1
OpenAlex: W2884070953
Cited by: 244
References: 107
Citations by year: 2026: 13 · 2025: 28 · 2024: 42 · 2023: 38 · 2022: 30 · 2021: 32 · 2020: 28 · 2019: 28 · 2018: 4
FWCI: 2.18
Type: journal article
Language: en
Open access: green
discovery.ucl.ac.uk
Licence: other-oa
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: The Lancet Neurology (publishedVersion)
PubMed (publishedVersion)
UCL Discovery (University College London) (submittedVersion, other-oa)
Funders: Alzheimer's Society
Topics: Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
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
Keywords: TREM2, Alzheimer's disease, neurodegenerative diseases, myeloid cells, microglia, amyloid plaques, neuroinflammation, genetic risk variants, loss-of-function mutations, frontotemporal dementia, genotype-phenotype correlation, therapeutic target
MeSH terms: Alzheimer Disease, Humans, Membrane Glycoproteins, Receptors, Immunologic, Neurodegenerative Diseases, Genetic Predisposition to Disease

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The role of TREM2 in Alzheimer's disease and other neurodegenerative disorders

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