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56/100

✓ Peer-reviewed alzhub usefulness score 56 out of 100. Risk genes beyond APOE

Topic: Brain proteins, microglia and lab models

Importance Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease in which microglia play a significant and active role. Recently, a rare missense variant (p.R47H) in the microglial activating gene TREM2 was found to increase the risk of several neurodegenerative diseases, including Alzheimer disease. Whether the p.R47H variant is a risk factor for ALS is not known.

Key findings

Recently, a rare missense variant (p.R47H) in the microglial activating gene TREM2 was found to increase the risk of several neurodegenerative diseases, including Alzheimer disease.
Whether the p.R47H variant is a risk factor for ALS is not known.
Objectives To determine whether p.R47H (rs75932628) in TREM2 is a risk factor for ALS and assess whether TREM2 expression is dysregulated in disease.
Design, setting, and participants Samples of DNA from 923 individuals with sporadic ALS and 1854 healthy control individuals self-reported as non-Hispanic white were collected from ALS clinics in the United States and genotyped for the p.R47H variant in TREM2.

Why it matters

This study genotyped DNA from 923 people with sporadic ALS (a fatal motor neuron disease, different from Alzheimer's) and 1,854 healthy controls, all self-reported non-Hispanic white and recruited at US ALS clinics. It asked whether the rare TREM2 variant p.R47H, which earlier studies had linked to Alzheimer's risk, is also a risk factor for ALS, and whether TREM2 expression is altered in the disease. The summary held here stops before the results, so this page cannot say what the study found, and it does not test any treatment, cure or prevention for Alzheimer's disease.

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Study details

Participants923
Evidence strengthLow

How this study scored 56/100

Published in a leading specialty journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it.

Component	Points	Why
Journal tier	9 / 10	Tier 2 — leading specialty journal (JAMA neurology)
Journal's citation record	2 / 4	JAMA Neurology: journal h-index 235 (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	2014 — within 20 year(s) of the newest study here
Sample size	2 / 4	923 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 262 times (OpenAlex, 2026-10-10)
Citations per year	3 / 5	18.7 citations a year over 14 year(s) since 2014
Impact for its field and year	5 / 6	Cited 20.5× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	4 / 6	Cited by 71 other studies in this library
Still being cited	2 / 4	Cited 42 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	3 / 4	Last-listed author Matthew B. Harms: h-index 56 (OpenAlex, whole career)
Institution's track record	2 / 3	Washington University in St. Louis: institution h-index 1,962 (OpenAlex)
Multi-centre collaboration	2 / 3	OpenAlex lists 6 institution(s) in 1 country
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 24535663)
Free to read	0 / 2	Behind a paywall — scores zero
Total	56 / 100	—

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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

Cady, J., Koval, E. D., Benitez, B. A., Zaidman, C., Jockel-Balsarotti, J., Allred, P., et al. (2014). TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis. JAMA neurology. https://doi.org/10.1001/jamaneurol.2013.6237

Vancouver

Cady J, Koval ED, Benitez BA, Zaidman C, Jockel-Balsarotti J, Allred P, et al. TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis. JAMA neurology. 2014. doi:10.1001/jamaneurol.2013.6237. PMID: 24535663.

BibTeX

@article{cady2014-24535663,
  author  = {Cady, J. and Koval, E. D. and Benitez, B. A. and Zaidman, C. and Jockel-Balsarotti, J. and Allred, P. and Baloh, R. H. and Ravits, J. and others},
  title   = {{TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis}},
  journal = {JAMA neurology},
  year    = {2014},
  doi     = {10.1001/jamaneurol.2013.6237},
  pmid    = {24535663},
  url     = {https://doi.org/10.1001/jamaneurol.2013.6237}
}

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