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Coding variants in TREM2 increase risk for Alzheimer's disease
Open accessAbstract
The triggering receptor expressed on myeloid 2 (TREM2) is an immune phagocytic receptor expressed on brain microglia known to trigger phagocytosis and regulate the inflammatory response. Homozygous mutations in TREM2 cause Nasu-Hakola disease, a rare recessive form of dementia. A heterozygous TREM2 variant, p.R47H, was recently shown to increase Alzheimer''s disease (AD) risk. We hypothesized that if TREM2 is truly an AD risk gene, there would be additional rare variants in TREM2 that substantially affect AD risk. To test this hypothesis, we performed pooled sequencing of TREM2 coding regions in 2082 AD cases and 1648 cognitively normal elderly controls of European American descent. We identified 16 non-synonymous variants, six of which were not identified in previous AD studies. Two variants, p.R47H [P = 9.17 × 10(-4), odds ratio (OR) = 2.63 (1.44-4.81)] and p.R62H [P = 2.36 × 10(-4), OR = 2.36 (1.47-3.80)] were significantly associated with disease risk in single-variant analyses. Gene-based tests demonstrate variants in TREM2 are genome-wide significantly associated with AD [PSKAT-O = 5.37 × 10(-7); OR = 2.55 (1.80-3.67)]. The association of TREM2 variants with AD is still highly significant after excluding p.R47H [PSKAT-O = 7.72 × 10(-5); OR = 2.47 (1.62-3.87)], indicating that additional TREM2 variants affect AD risk. Genotyping in available family members of probands suggested that p.R47H (P = 4.65 × 10(-2)) and p.R62H (P = 6.87 × 10(-3)) were more frequently seen in AD cases versus controls within these families. Gel electrophoresis analysis confirms that at least three TREM2 transcripts are expressed in human brains, including one encoding a soluble form of TREM2.
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“Numerous TREM2 mutations linked with AD have been identified, including R47H, R62H, N68K, D87N, T96K, and so on.191,193”
From Role of neuroinflammation in neurodegeneration development (2023) · cites this paper as [191]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Consistent with these enrichment analyses, both rare and common variants have been identified in core microglial genes, such as TREM213,14.”
From Variant-to-function mapping of late-onset Alzheimer’s disease GWAS signals in human microglial cell models implicates RTFDC1 at the CASS4 locus (2024) · cites this paper as [14]
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“Homozygous mutations are associated with Nasu–Hakola disease (NHD),189 or frontotemporal dementia,190 while the TREM2 variants associates with AD are heterozygous.191”
From Role of neuroinflammation in neurodegeneration development (2023) · cites this paper as [191]
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“Importantly, TREM2 variants associate with an increased risk of AD [15, 25, 38–40].”
From Protective PLCG2 variants associate with a delayed onset of Alzheimer’s disease among heterozygous APOE ε4 carriers (2026) · cites this paper as [40]
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“supporting a strong immunological role in AD93–95 including TREM27,96, CD33, and IL34.”
From Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer’s disease (2024) · cites this paper as [96]
In the citing paper
“Several other TREM2 variants that affect the expression of TREM2 also increased the risk of AD, including R62H, T66M, H157Y, and D87N.”
From Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets (2023) · cites this paper as [166]
In the citing paper
“Since the identification of R47H, additional rare variants in TREM2 have been associated with AD risk [138–140]”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [139]
In the citing paper
“The risk from this variant has a comparable effect size with the APOEε4 allele (around 3-fold increased AD risk; 4,19–22).”
From Trem2 promotes anti-inflammatory responses in microglia and is suppressed under pro-inflammatory conditions (2020) · cites this paper as [20]
In the citing paper
“In addition to the R47H variant, further TREM2 variants have been revealed to be risk factors of AD or other CNS diseases, such as R62H (8,20), H157Y (25), Q33X, T66M and Y38C (26,27).”
From Trem2 promotes anti-inflammatory responses in microglia and is suppressed under pro-inflammatory conditions (2020) · cites this paper as [20]
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Metadata
- Authors
- Jin, S. C., Benitez, B. A., Karch, C. M., Cooper, B., Skorupa, T., Carrell, D., Norton, J. B., Hsu, S., Harari, O., Cai, Y., Bertelsen, S., Goate, A. M., & Cruchaga, C.
- Affiliations
- Washington University in St. Louis (US)
- Corresponding author
- Goate, Alison M.
- Cruchaga, Carlos
- ORCID
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2014-06-04
- Volume
- 23
- Issue
- 21
- Pages
- 5838-5846
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC4189899
- OpenAlex
- W2107590165
- Cited by
- 314
- References
- 46
- Citations by year
- 2026: 20 · 2025: 34 · 2024: 28 · 2023: 18 · 2022: 23 · 2021: 31 · 2020: 30 · 2019: 28 · 2018: 30 · 2017: 27 · 2016: 23 · 2015: 18 · 2014: 4
- FWCI
- 16.00
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Molecular Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- American Federation for Aging Research
- Alvin J. Siteman Cancer Center (CA91842, #P30 CA91842)
- Georgia Clinical and Translational Science Alliance (UL1TR000448)
- National Institutes of Health (NIH P50, UL1TR000448, 5p30ns069329-02, AG05681, AG 03991, CA91842, NS069329)
- National Institute on Aging (RF1AG044546, AG03991, K01AG046374, AG 05681, R01AG035083, U24 AG21886, P 50 AG05681, R01AG041797, R01AG044546, AG026276, P50AG005681, P01 AG0 3991, P01AG003991, AG035083, U24AG026395, U24AG056270, P01AG026276, U24AG021886)
- National Cancer Institute (P30 CA 91842, CA91842, P30CA091842)
- National Institute of Neurological Disorders and Stroke (P30-NS069329)
- National Center for Research Resources (P30 CA91842)
- National Center for Advancing Translational Sciences
- 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, Alzheimer's disease, genetic risk variants, microglia, non-synonymous variants, Nasu-Hakola disease, soluble TREM2, gene-based association, European-American population
- MeSH terms
- Adult, Aged, Aged, 80 and over, Alzheimer Disease, Amino Acid Sequence, Brain, Female, Humans, Male, Membrane Glycoproteins, Middle Aged, Molecular Sequence Data, Receptors, Immunologic, Risk, Genetic Variation, Case-Control Studies, Open Reading Frames, Sequence Alignment, Alternative Splicing, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genetic Association Studies
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