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TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease
Pottier C, Wallon D, Rousseau S, Rovelet-Lecrux A, Richard AC, Rollin-Sillaire A, Frebourg T, Campion D et al.. Journal of Alzheimer's disease : JAD, 2013-01-01
Topic: Brain proteins, microglia and lab models
The rs75932628-T variant of the gene encoding the triggering receptor expressed on myeloid cells 2 (TREM2) has recently been identified as a rare risk factor for late-onset Alzheimer's disease (AD). In this study we examined the association between TREM2 exon 2 variants and early-onset AD in a sample of Caucasian subjects of French origin including 726 patients with age of onset ≤65 years and 783 controls. Only the rs75932628-T variant (predicted to cause an R47H substitution) conferred a significant risk for early-onset AD (OR, 4.07; 95% CI, 1.3 to 16.9; p = 0.009).
Key findings
- In this study we examined the association between TREM2 exon 2 variants and early-onset AD in a sample of Caucasian subjects of French origin including 726 patients with age of onset ≤65 years and 783 controls.
- Only the rs75932628-T variant (predicted to cause an R47H substitution) conferred a significant risk for early-onset AD (OR, 4.07; 95% CI, 1.3 to 16.9; p = 0.009).
- These results confirm the association between this variant and AD and underline its involvement in early-onset cases.
Why it matters
In 726 French patients whose Alzheimer's began at or before age 65 and 783 people without the disease, the rare TREM2 variant rs75932628-T (R47H), previously linked to late-onset Alzheimer's, was more common in patients (odds ratio 4.07, 95% CI 1.3–16.9); it was the only TREM2 exon 2 variant to reach significance. The wide range means the true effect could be small or large, and the sample was limited to people of French origin. This is a genetic association study: it does not show the variant causes the disease, give an individual's risk, or test any treatment.
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Study details
- Participants726
- Evidence strengthLow
How this study scored 53/100
Published in a peer-reviewed journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Journal of Alzheimer's disease : JAD) |
| Journal's citation record | 2 / 4 | Journal of Alzheimer s Disease: journal h-index 218 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 2013 — within 20 year(s) of the newest study here |
| Sample size | 2 / 4 | 726 participants |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 5 / 7 | Cited 164 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 10.9 citations a year over 15 year(s) since 2013 |
| Impact for its field and year | 4 / 6 | Cited 14.1× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 4 / 6 | Cited by 42 other studies in this library |
| Still being cited | 2 / 4 | Cited 22 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Didier Hannequin: h-index 85 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Inserm: institution h-index 1,988 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 5 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 23380991) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 53 / 100 | — |
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Read the original
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Cite this study APA, Vancouver, BibTeX · download .bib or .ris
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.
APA 7th
Pottier, C., Wallon, D., Rousseau, S., Rovelet-Lecrux, A., Richard, A. C., Rollin-Sillaire, A., et al. (2013). TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease. Journal of Alzheimer's disease : JAD. https://doi.org/10.3233/jad-122311
Vancouver
Pottier C, Wallon D, Rousseau S, Rovelet-Lecrux A, Richard AC, Rollin-Sillaire A, et al. TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease. Journal of Alzheimer's disease : JAD. 2013. doi:10.3233/jad-122311. PMID: 23380991.
BibTeX
@article{pottier2013-23380991,
author = {Pottier, C. and Wallon, D. and Rousseau, S. and Rovelet-Lecrux, A. and Richard, A. C. and Rollin-Sillaire, A. and Frebourg, T. and Campion, D. and others},
title = {{TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease}},
journal = {Journal of Alzheimer's disease : JAD},
year = {2013},
doi = {10.3233/jad-122311},
pmid = {23380991},
url = {https://doi.org/10.3233/jad-122311}
}
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