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Variant of TREM2 associated with the risk of Alzheimer's disease
Jonsson T, Stefansson H, Steinberg S, Jonsdottir I, Jonsson PV, Snaedal J, Bjornsson S, Huttenlocher J et al.. The New England journal of medicine, 2012-11-14
Topic: Amyloid, tau and blood-test diagnosis
Background Sequence variants, including the ε4 allele of apolipoprotein E, have been associated with the risk of the common late-onset form of Alzheimer's disease. Few rare variants affecting the risk of late-onset Alzheimer's disease have been found. Methods We obtained the genome sequences of 2261 Icelanders and identified sequence variants that were likely to affect protein function.
Key findings
- Few rare variants affecting the risk of late-onset Alzheimer's disease have been found.
- Methods We obtained the genome sequences of 2261 Icelanders and identified sequence variants that were likely to affect protein function.
- We imputed these variants into the genomes of patients with Alzheimer's disease and control participants and then tested for an association with Alzheimer's disease.
- We performed replication tests using case-control series from the United States, Norway, The Netherlands, and Germany.
Why it matters
This genetic study sequenced the genomes of 2,261 Icelanders to look for rare variants likely to affect protein function. It then tested those variants in people with and without Alzheimer's disease, and checked them in case-control groups from the United States, Norway, the Netherlands and Germany. The authors report a TREM2 variant associated with Alzheimer's disease risk, but the summary held here stops before the results, so see the original paper for which variant and how large the effect is. It identifies a genetic risk association and does not test any treatment, cure, or prevention.
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Study details
- Study designcase-control study
- Effect size0.46%
- Evidence strengthModerate
How this study scored 74/100
Published in a top-tier journal, and it is a case-control study. Scored zero for sample size, studied in people and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 10 / 10 | Tier 1 — top-tier general journal (The New England journal of medicine) |
| Journal's citation record | 4 / 4 | New England Journal of Medicine: journal h-index 1,505 (OpenAlex, 2026-10-29) |
| Study design | 6 / 12 | A case-control study |
| Strength of evidence | 3 / 5 | Rated “moderate” 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 | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 2 / 3 | Effect reported as a number, without an interval or test |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 7 / 7 | Cited 2,560 times (OpenAlex, 2026-10-10) |
| Citations per year | 5 / 5 | 170.7 citations a year over 15 year(s) since 2013 |
| Impact for its field and year | 6 / 6 | Cited 85.5× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 6 / 6 | Cited by 368 other studies in this library |
| Still being cited | 4 / 4 | Cited 487 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Kāri Stefánsson: h-index 227 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | Emory University: institution h-index 1,360 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 11 institution(s) in 5 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 23150908) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 74 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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
Jonsson, T., Stefansson, H., Steinberg, S., Jonsdottir, I., Jonsson, P. V., Snaedal, J., et al. (2013). Variant of TREM2 associated with the risk of Alzheimer's disease. The New England journal of medicine. https://doi.org/10.1056/nejmoa1211103
Vancouver
Jonsson T, Stefansson H, Steinberg S, Jonsdottir I, Jonsson PV, Snaedal J, et al. Variant of TREM2 associated with the risk of Alzheimer's disease. The New England journal of medicine. 2013. doi:10.1056/nejmoa1211103. PMID: 23150908.
BibTeX
@article{jonsson2013-23150908,
author = {Jonsson, T. and Stefansson, H. and Steinberg, S. and Jonsdottir, I. and Jonsson, P. V. and Snaedal, J. and Bjornsson, S. and Huttenlocher, J. and others},
title = {{Variant of TREM2 associated with the risk of Alzheimer's disease}},
journal = {The New England journal of medicine},
year = {2013},
doi = {10.1056/nejmoa1211103},
pmid = {23150908},
url = {https://doi.org/10.1056/nejmoa1211103}
}
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