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TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers
Del-Aguila JL, Benitez BA, Li Z, Dube U, Mihindukulasuriya KA, Budde JP, Farias FHG, Fernández MV et al.. Molecular neurodegeneration, 2019-05-08
Topic: Brain proteins, microglia and lab models
Background Low frequency coding variants in TREM2 are associated with Alzheimer disease (AD) risk and cerebrospinal fluid (CSF) TREM2 protein levels are different between AD cases and controls. Similarly, TREM2 risk variant carriers also exhibit differential CSF TREM2 levels. TREM2 has three different alternative transcripts, but most of the functional studies only model the longest transcript.
Key findings
- Similarly, TREM2 risk variant carriers also exhibit differential CSF TREM2 levels.
- TREM2 has three different alternative transcripts, but most of the functional studies only model the longest transcript.
- No studies have analyzed TREM2 expression levels or alternative splicing in brains from AD and cognitively normal individuals.
- We wanted to determine whether there was differential expression of TREM2 in sporadic-AD cases versus AD-TREM2 carriers vs sex- and aged-matched normal controls; and if this differential expression was due to a particular TREM2 transcript.
Why it matters
This study analyzed TREM2 brain transcript-specific expression and alternative splicing in Alzheimer's disease cases, TREM2 mutation carriers and cognitively normal controls. It is a genetic and expression study and does not show that targeting TREM2 treats, cures or prevents Alzheimer's disease.
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Study details
- Participants33
- 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 (Molecular neurodegeneration) |
| Journal's citation record | 2 / 4 | Molecular Neurodegeneration: journal h-index 164 (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 | 2 / 5 | 2019 — within 10 year(s) of the newest study here |
| Sample size | 1 / 4 | 33 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 109 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 12.1 citations a year over 9 year(s) since 2019 |
| Impact for its field and year | 3 / 6 | Cited 7.7× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 17 other studies in this library |
| Still being cited | 2 / 4 | Cited 39 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 | 2 / 3 | Washington University in St. Louis: institution h-index 1,962 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 31068200) |
| Free to read | 2 / 2 | Free to read |
| Total | 53 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1186/s13024-019-0319-3
- PubMed: 31068200
- Original source →
- Free full text: Molecular Neurodegeneration →
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
Del-Aguila, J. L., Benitez, B. A., Li, Z., Dube, U., Mihindukulasuriya, K. A., Budde, J. P., et al. (2019). TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers. Molecular neurodegeneration. https://doi.org/10.1186/s13024-019-0319-3
Vancouver
Del-Aguila JL, Benitez BA, Li Z, Dube U, Mihindukulasuriya KA, Budde JP, et al. TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers. Molecular neurodegeneration. 2019. doi:10.1186/s13024-019-0319-3. PMID: 31068200.
BibTeX
@article{delaguila2019-31068200,
author = {Del-Aguila, J. L. and Benitez, B. A. and Li, Z. and Dube, U. and Mihindukulasuriya, K. A. and Budde, J. P. and Farias, F. H. G. and Fernández, M. V. and others},
title = {{TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers}},
journal = {Molecular neurodegeneration},
year = {2019},
doi = {10.1186/s13024-019-0319-3},
pmid = {31068200},
url = {https://doi.org/10.1186/s13024-019-0319-3}
}
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