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Expression and processing analyses of wild type and p.R47H TREM2 variant in Alzheimer's disease brains
Ma L, Allen M, Sakae N, Ertekin-Taner N, Graff-Radford NR, Dickson DW, Younkin SG, Sevlever D.. Molecular neurodegeneration, 2016-11-25
Topic: Brain proteins, microglia and lab models
Background Genetic analyses showed that the triggering receptor expressed in myeloid cells 2 (TREM2) p.R47H variant increases the risk for Alzheimer's disease (AD). The question of whether the p.R47H mutation affects expression or function of the receptor remains unanswered. To address this question we quantified mRNA and analyzed protein profiles of WT and p.R47H TREM2 in human brains.
Key findings
- The question of whether the p.R47H mutation affects expression or function of the receptor remains unanswered.
- To address this question we quantified mRNA and analyzed protein profiles of WT and p.R47H TREM2 in human brains.
- Methods Quantitative real-time PCR (qPCR) was performed using 2 sets of primers one that detects all TREM2 mRNA isoforms and one specific for the alternative spliced isoform (TREM2alt) that encodes for the extracellular domain (soluble TREM2).
- Because in the brain TREM2 is expressed primarily in microglial cells, we also assessed the levels of IBA1 to control for microglial variability across samples.
Why it matters
This study measured mRNA and protein profiles of wild-type and p.R47H TREM2 in human brains to see whether the mutation affects expression or function. It is descriptive human tissue research and does not test a treatment.
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Study details
- Evidence strengthLow
How this study scored 39/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people 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 | 1 / 5 | 2016 — 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) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 4 / 7 | Cited 71 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 5.9 citations a year over 12 year(s) since 2016 |
| Impact for its field and year | 3 / 6 | Cited 4.8× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 19 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 | 1 / 4 | Last-listed author Daniel Sevlever: h-index 19 (OpenAlex, whole career) |
| Institution's track record | 0 / 3 | Mayo Clinic in Florida: institution h-index 681 (OpenAlex) |
| Multi-centre collaboration | 0 / 3 | OpenAlex lists 1 institution(s) in 1 country — scores zero (affiliation lists can be incomplete) |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 27887626) |
| Free to read | 2 / 2 | Free to read |
| Total | 39 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1186/s13024-016-0137-9
- PubMed: 27887626
- 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 names 8 authors; APA and Vancouver show the first six, BibTeX and the downloads carry all of them. Check the citation against the original before you use it.
APA 7th
Ma, L., Allen, M., Sakae, N., Ertekin-Taner, N., Graff-Radford, N. R., Dickson, D. W., et al. (2016). Expression and processing analyses of wild type and p.R47H TREM2 variant in Alzheimer's disease brains. Molecular neurodegeneration. https://doi.org/10.1186/s13024-016-0137-9
Vancouver
Ma L, Allen M, Sakae N, Ertekin-Taner N, Graff-Radford NR, Dickson DW, et al. Expression and processing analyses of wild type and p.R47H TREM2 variant in Alzheimer's disease brains. Molecular neurodegeneration. 2016. doi:10.1186/s13024-016-0137-9. PMID: 27887626.
BibTeX
@article{ma2016-27887626,
author = {Ma, L. and Allen, M. and Sakae, N. and Ertekin-Taner, N. and Graff-Radford, N. R. and Dickson, D. W. and Younkin, S. G. and Sevlever, D.},
title = {{Expression and processing analyses of wild type and p.R47H TREM2 variant in Alzheimer's disease brains}},
journal = {Molecular neurodegeneration},
year = {2016},
doi = {10.1186/s13024-016-0137-9},
pmid = {27887626},
url = {https://doi.org/10.1186/s13024-016-0137-9}
}
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