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.

55/100

✓ Peer-reviewed alzhub usefulness score 55 out of 100. TREM2 and immune genetics

Topic: Amyloid, tau and blood-test diagnosis

Importance Some of the unexplained heritability of Alzheimer disease (AD) may be due to rare variants whose effects are not captured in genome-wide association studies because very large samples are needed to observe statistically significant associations. Objective To identify genetic variants associated with AD risk using a nonstatistical approach. Design, setting, and participants Genetic association study in which rare variants were identified by whole-exome sequencing in unrelated individuals of European ancestry from the Alzheimer's Disease Sequencing Project (ADSP).

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

APA 7th

Patel, D., Mez, J., Vardarajan, B. N., Staley, L., Chung, J., Zhang, X., et al. (2019). Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry. JAMA network open. https://doi.org/10.1001/jamanetworkopen.2019.1350

Vancouver

Patel D, Mez J, Vardarajan BN, Staley L, Chung J, Zhang X, et al. Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry. JAMA network open. 2019. doi:10.1001/jamanetworkopen.2019.1350. PMID: 30924900.

BibTeX

@article{patel2019-30924900,
  author  = {Patel, D. and Mez, J. and Vardarajan, B. N. and Staley, L. and Chung, J. and Zhang, X. and Farrell, J. J. and Rynkiewicz, M. J. and others},
  title   = {{Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry}},
  journal = {JAMA network open},
  year    = {2019},
  doi     = {10.1001/jamanetworkopen.2019.1350},
  pmid    = {30924900},
  url     = {https://doi.org/10.1001/jamanetworkopen.2019.1350}
}

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.

Key findings

Objective To identify genetic variants associated with AD risk using a nonstatistical approach.
Design, setting, and participants Genetic association study in which rare variants were identified by whole-exome sequencing in unrelated individuals of European ancestry from the Alzheimer's Disease Sequencing Project (ADSP).
Data were analyzed between March 2017 and September 2018.
Main outcomes and measures Minor alleles genome-wide and in 95 genes previously associated with AD, AD-related traits, or other dementias were tabulated and filtered for predicted functional impact and occurrence in participants with AD but not controls.

Why it matters

This genetic study used whole-exome sequencing to identify rare variants associated with Alzheimer's disease risk in people of European ancestry. It may inform future research into genetic causes but does not provide a treatment or cure.

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

Study details

Participants5,617
Effect size57.0%; 59.0%
Evidence strengthLow

How this study scored 55/100

Published in a leading specialty journal. Scored zero for study design and randomised / blinded because the record does not state it. We have no data on senior author's track record, so that was left out: it earned 53 of the 96 points we could judge it on, which is 55 out of 100.

Component	Points	Why
Journal tier	9 / 10	Tier 2 — leading specialty journal (JAMA network open)
Journal's citation record	2 / 4	JAMA Network Open: 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	2 / 5	2019 — within 10 year(s) of the newest study here
Sample size	3 / 4	5,617 participants
Effect reported	2 / 3	Effect reported as a number, without an interval or test
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	4 / 7	Cited 67 times (OpenAlex, 2026-10-10)
Citations per year	2 / 5	7.4 citations a year over 9 year(s) since 2019
Impact for its field and year	3 / 6	Cited 6.3× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	1 / 6	Cited by 1 other studies in this library
Still being cited	2 / 4	Cited 15 times in 2024–2026 (2026 still in progress; OpenAlex)
Senior author's track record	— / 4	Senior author's record not available — left out of this score
Institution's track record	2 / 3	University of Pennsylvania: institution h-index 1,859 (OpenAlex)
Multi-centre collaboration	3 / 3	OpenAlex lists 11 institution(s) in 1 country
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 30924900)
Free to read	2 / 2	Free to read
Points	53 / 96	Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 53 of the 96 points we could judge it on is 55 out of 100.
Total	55 / 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 17.

Later studies that cite this one

1 study in the alzhub library lists this one in its references.

Related studies in TREM2 and immune genetics

Also tagged “precursor”

1,337 studies in the library carry the topic tag “precursor”; these are this study's neighbours in a fixed, alphabetical-by-hash tour of them, not the closest in content. All 1,337 tagged studies.

Studies sharing this one's topic tags

Similar studies

More on TREM2 and immune genetics

See all studies in TREM2 and immune genetics →