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85/100

✓ Peer-reviewed alzhub usefulness score 85 out of 100. TREM2 and immune genetics

Topic: Amyloid, tau and blood-test diagnosis

Background Homozygous loss-of-function mutations in TREM2, encoding the triggering receptor expressed on myeloid cells 2 protein, have previously been associated with an autosomal recessive form of early-onset dementia. Methods We used genome, exome, and Sanger sequencing to analyze the genetic variability in TREM2 in a series of 1092 patients with Alzheimer's disease and 1107 controls (the discovery set). We then performed a meta-analysis on imputed data for the TREM2 variant rs75932628 (predicted to cause a R47H substitution) from three genomewide association studies of Alzheimer's disease and tested for the association of the variant with disease.

Key findings

Methods We used genome, exome, and Sanger sequencing to analyze the genetic variability in TREM2 in a series of 1092 patients with Alzheimer's disease and 1107 controls (the discovery set).
We then performed a meta-analysis on imputed data for the TREM2 variant rs75932628 (predicted to cause a R47H substitution) from three genomewide association studies of Alzheimer's disease and tested for the association of the variant with disease.
We genotyped the R47H variant in an additional 1887 cases and 4061 controls.
We then assayed the expression of TREM2 across different regions of the human brain and identified genes that are differentially expressed in a mouse model of Alzheimer's disease and in control mice.

Why it matters

This genetic study sequenced the TREM2 gene in 1,092 people with Alzheimer's disease and 1,107 controls. It pooled data on one TREM2 variant, R47H, from three genome-wide studies and checked that variant in a further 1,887 cases and 4,061 controls. The summary held here describes the methods but not the results, so see the original paper for what was found. It is a genetics study and does not test any treatment, cure, or prevention.

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Study details

Study designmeta-analysis
Participants1,092
Evidence strengthHigh

How this study scored 85/100

Published in a top-tier journal, and it is a meta-analysis pooling many studies. Scored zero for effect reported 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	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	2013 — within 20 year(s) of the newest study here
Sample size	3 / 4	1,092 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	A review of other studies — randomisation is not credited here
Times cited	7 / 7	Cited 3,026 times (OpenAlex, 2026-10-10)
Citations per year	5 / 5	201.7 citations a year over 15 year(s) since 2013
Impact for its field and year	6 / 6	Cited 94.4× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	6 / 6	Cited by 404 other studies in this library
Still being cited	4 / 4	Cited 601 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	4 / 4	Last-listed author John Hardy: h-index 205 (OpenAlex, whole career)
Institution's track record	2 / 3	University College London: institution h-index 2,029 (OpenAlex)
Multi-centre collaboration	1 / 3	OpenAlex lists 2 institution(s) in 1 country
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 23150934)
Free to read	0 / 2	Behind a paywall — scores zero
Total	85 / 100	—

What each of these 20 components measures, and what this score is not →

Read the original

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APA 7th

Guerreiro, R., Wojtas, A., Bras, J., Carrasquillo, M., Rogaeva, E., Majounie, E., et al. (2013). TREM2 variants in Alzheimer's disease. The New England journal of medicine. https://doi.org/10.1056/nejmoa1211851

Vancouver

Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, et al. TREM2 variants in Alzheimer's disease. The New England journal of medicine. 2013. doi:10.1056/nejmoa1211851. PMID: 23150934.

BibTeX

@article{guerreiro2013-23150934,
  author  = {Guerreiro, R. and Wojtas, A. and Bras, J. and Carrasquillo, M. and Rogaeva, E. and Majounie, E. and Cruchaga, C. and Sassi, C. and others},
  title   = {{TREM2 variants in Alzheimer's disease}},
  journal = {The New England journal of medicine},
  year    = {2013},
  doi     = {10.1056/nejmoa1211851},
  pmid    = {23150934},
  url     = {https://doi.org/10.1056/nejmoa1211851}
}

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