This page is alzhub.org's plain-English summary of a published study, not the paper itself. It is generated from the record we hold for this study, sourced and linked below — check the original for the full text and methods.

51/100

✓ Peer-reviewed alzhub usefulness score 51 out of 100. Risk genes beyond APOE

Topic: Brain proteins, microglia and lab models

Plain-language summary

Background The R47H variant of the Triggering Receptor Expressed on Myeloid cells 2 (TREM2) significantly increases the risk for late onset Alzheimer's disease. Mouse models accurately reproducing phenotypes observed in Alzheimer' disease patients carrying the R47H coding variant are required to understand the TREM2 related dysfunctions responsible for the enhanced risk for late onset Alzheimer's disease. Methods A CRISPR/Cas9-assisted gene targeting strategy was used to generate Trem2 R47H knock-in mice.

What this study adds

Evidence grade: Low

In Trem2 R47H knock-in mice, the Alzheimer's risk variant impaired splicing and reduced Trem2 mRNA and protein, but this effect was not seen in humans. This is animal and cell-model work and does not demonstrate a treatment, cure, or prevention for Alzheimer's disease.

Taken from this record’s own fields, not from reading the paper. The grade is assigned from the abstract’s wording; what that means.

Cite this study APA, Vancouver, BibTeX · download .bib or .ris

APA 7th

Xiang, X., Piers, T. M., Wefers, B., Zhu, K., Mallach, A., Brunner, B., et al. (2018). The Trem2 R47H Alzheimer's risk variant impairs splicing and reduces Trem2 mRNA and protein in mice but not in humans. Molecular neurodegeneration. https://doi.org/10.1186/s13024-018-0280-6

Vancouver

Xiang X, Piers TM, Wefers B, Zhu K, Mallach A, Brunner B, et al. The Trem2 R47H Alzheimer's risk variant impairs splicing and reduces Trem2 mRNA and protein in mice but not in humans. Molecular neurodegeneration. 2018. doi:10.1186/s13024-018-0280-6. PMID: 30185230.

BibTeX

@article{xiang2018-30185230,
  author  = {Xiang, X. and Piers, T. M. and Wefers, B. and Zhu, K. and Mallach, A. and Brunner, B. and Kleinberger, G. and Song, W. and others},
  title   = {{The Trem2 R47H Alzheimer's risk variant impairs splicing and reduces Trem2 mRNA and protein in mice but not in humans}},
  journal = {Molecular neurodegeneration},
  year    = {2018},
  doi     = {10.1186/s13024-018-0280-6},
  pmid    = {30185230},
  url     = {https://doi.org/10.1186/s13024-018-0280-6}
}

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.

How to read this study

Design: our record does not state a study design, so check the methods section of the original before weighing the result.
Size: the record gives no participant count. Look for one in the original before trusting a pattern.
Effect: the record gives no effect size, so the summary above cannot say how large any difference was.

What the evidence grade means here

This page is graded low. alzhub.org assigns the grade automatically from keywords in the abstract, not from reading the paper. Low means the abstract matched neither pattern. It is the default label, and it does not mean the work is poor; many sound lab and imaging papers land here. It can add at most 5 of the 100 points in the study score, and it is a label about design, not a verdict on whether the findings are true.

New to reading papers? Six questions to ask of any Alzheimer’s study · how we score.

Key findings

Mouse models accurately reproducing phenotypes observed in Alzheimer' disease patients carrying the R47H coding variant are required to understand the TREM2 related dysfunctions responsible for the enhanced risk for late onset Alzheimer's disease.
Methods A CRISPR/Cas9-assisted gene targeting strategy was used to generate Trem2 R47H knock-in mice.
Trem2 mRNA and protein levels as well as Trem2 splicing patterns were assessed in these mice, in iPSC-derived human microglia-like cells, and in human brains from Alzheimer's patients carrying the TREM2 R47H risk factor.
Results Two independent Trem2 R47H knock-in mouse models show reduced Trem2 mRNA and protein production.

Why it matters

New to this subject? Start with our plain-English guide: Genetics →

Study details

Evidence strengthLow

How this study scored 51/100

Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported and randomized / 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	2018 — within 10 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	Laboratory or animal study (title names “mice”) — scores zero
Randomized / blinded	0 / 2	No randomization or blinding stated — scores zero (not stated in the record — scored 0)
Times cited	5 / 7	Cited 171 times (OpenAlex, 2026-10-10)
Citations per year	3 / 5	17.1 citations a year over 10 year(s) since 2018
Impact for its field and year	4 / 6	Cited 11.8× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	3 / 6	Cited by 25 other studies in this library
Still being cited	2 / 4	Cited 41 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	4 / 4	Last-listed author Christian Haass: h-index 139 (OpenAlex, whole career)
Institution's track record	2 / 3	University College London: institution h-index 2,029 (OpenAlex)
Multicenter collaboration	2 / 3	OpenAlex lists 9 institution(s) in 3 countries
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 30185230)
Free to read	2 / 2	Free to read
Total	51 / 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).

Studies in the library that share something with this one. The line above each title says what.

Studies this one cites

Referenced by this study and also in the alzhub library, so you can read them here. Showing 12 of 31.

Later studies that cite this one

25 studies in the alzhub library list this one in their references. Showing the 8 highest-scoring.

Related studies in Risk genes beyond APOE from nearby years

Also tagged “r47h”

363 studies in the library carry the topic tag “r47h”; these are this study's neighbours in a fixed, alphabetical-by-hash tour of them, not the closest in content. All 363 tagged studies.

Studies sharing this one's topic tags

Similar studies

More on Risk genes beyond APOE

See all studies in Risk genes beyond APOE →