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Missense variant in TREML2 protects against Alzheimer's disease
Benitez BA, Jin SC, Guerreiro R, Graham R, Lord J, Harold D, Sims R, Lambert JC et al.. Neurobiology of aging, 2013-12-21
Topic: Brain proteins, microglia and lab models
Plain-language summary
TREM and TREM-like receptors are a structurally similar protein family encoded by genes clustered on chromosome 6p21.11. Recent studies have identified a rare coding variant (p.R47H) in TREM2 that confers a high risk for Alzheimer's disease (AD). In addition, common single nucleotide polymorphisms in this genomic region are associated with cerebrospinal fluid biomarkers for AD and a common intergenic variant found near the TREML2 gene has been identified to be protective for AD.
What this study adds
Evidence grade: High
This is a pooled review. This meta-analysis examined a missense variant in TREML2 and reported that it protects against Alzheimer's disease. It identifies a genetic factor linked to disease risk but does not test any treatment or prevention in people.
Taken from this record’s own fields, not from reading the paper. The grade is assigned from the abstract’s wording; what that means.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Benitez, B. A., Jin, S. C., Guerreiro, R., Graham, R., Lord, J., Harold, D., et al. (2014). Missense variant in TREML2 protects against Alzheimer's disease. Neurobiology of aging. https://doi.org/10.1016/j.neurobiolaging.2013.12.010
Vancouver
Benitez BA, Jin SC, Guerreiro R, Graham R, Lord J, Harold D, et al. Missense variant in TREML2 protects against Alzheimer's disease. Neurobiology of aging. 2014. doi:10.1016/j.neurobiolaging.2013.12.010. PMID: 24439484.
BibTeX
@article{benitez2014-24439484,
author = {Benitez, B. A. and Jin, S. C. and Guerreiro, R. and Graham, R. and Lord, J. and Harold, D. and Sims, R. and Lambert, J. C. and others},
title = {{Missense variant in TREML2 protects against Alzheimer's disease}},
journal = {Neurobiology of aging},
year = {2014},
doi = {10.1016/j.neurobiolaging.2013.12.010},
pmid = {24439484},
url = {https://doi.org/10.1016/j.neurobiolaging.2013.12.010}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
Key findings
- Recent studies have identified a rare coding variant (p.R47H) in TREM2 that confers a high risk for Alzheimer's disease (AD).
- In addition, common single nucleotide polymorphisms in this genomic region are associated with cerebrospinal fluid biomarkers for AD and a common intergenic variant found near the TREML2 gene has been identified to be protective for AD.
- However, little is known about the functional variant underlying the latter association or its relationship with the p.R47H.
- Here, we report comprehensive analyses using whole-exome sequencing data, cerebrospinal fluid biomarker analyses, meta-analyses (16,254 cases and 20,052 controls) and cell-based functional studies to support the role of the TREML2 coding missense variant p.S144G (rs3747742) as a potential driver of the meta-analysis AD-associated genome-wide association studies signal.
Why it matters
This meta-analysis examined a missense variant in TREML2 and reported that it protects against Alzheimer's disease. It identifies a genetic factor linked to disease risk but does not test any treatment or prevention in people.
New to this subject? Start with our plain-English guide: Genetics →
Study details
- Study designmeta-analysis
- Evidence strengthHigh
How this study scored 69/100
Published in a peer-reviewed journal, and it is a meta-analysis pooling many studies. Scored zero for sample size, effect reported and studied in people because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Neurobiology of aging) |
| Journal's citation record | 3 / 4 | Neurobiology of Aging: journal h-index 263 (OpenAlex, 2026-10-29) |
| Study design | 12 / 12 | A meta-analysis pooling many studies |
| Strength of evidence | 5 / 5 | Rated “high” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 2014 — within 20 year(s) of the newest study here |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomized / blinded | 0 / 2 | A review of other studies — randomization is not credited here |
| Times cited | 5 / 7 | Cited 124 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 8.9 citations a year over 14 year(s) since 2014 |
| Impact for its field and year | 4 / 6 | Cited 8.8× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 4 / 6 | Cited by 31 other studies in this library |
| Still being cited | 1 / 4 | Cited 11 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Carlos C Cruchaga: h-index 102 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | National Institutes of Health: institution h-index 2,723 (OpenAlex) |
| Multicenter collaboration | 3 / 3 | OpenAlex lists 21 institution(s) in 3 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 24439484) |
| Free to read | 2 / 2 | Free to read |
| Total | 69 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1016/j.neurobiolaging.2013.12.010
- PubMed: 24439484
- Original source →
- Free full text: Neurobiology of Aging →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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