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Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease
Dalmasso MC, Brusco LI, Olivar N, Muchnik C, Hanses C, Milz E, Becker J, Heilmann-Heimbach S et al.. Translational psychiatry, 2019-01-31
Topic: Brain proteins, microglia and lab models
Rare coding variants in TREM2, PLCG2, and ABI3 were recently associated with the susceptibility to Alzheimer's disease (AD) in Caucasians. Frequencies and AD-associated effects of variants differ across ethnicities. To start filling the gap on AD genetics in South America and assess the impact of these variants across ethnicity, we studied these variants in Argentinian population in association with ancestry. TREM2 (rs143332484 and rs75932628), PLCG2 (rs72824905), and ABI3 (rs616338) were genotyped in 419 AD cases and 486 controls. Meta-analysis with European population was performed. Ancestry was estimated from genome-wide genotyping results. All variants show similar frequencies and odds ratios to those previously reported. Their association with AD reach statistical significance by meta-analysis. Although the Argentinian population is an admixture, variant carriers presented mainly Caucasian ancestry. Rare coding variants in TREM2, PLCG2, and ABI3 also modulate susceptibility to AD in populations from Argentina, and they may have a European heritage.
Key findings
- Rare coding variants in TREM2, PLCG2, and ABI3 were recently associated with the susceptibility to Alzheimer's disease (AD) in Caucasians.
- Ancestry was estimated from genome-wide genotyping results.
Why it matters
In 419 people with Alzheimer's and 486 controls from Argentina, rare variants in TREM2, PLCG2 and ABI3 showed frequencies and risk estimates similar to earlier European reports, and were significantly linked to Alzheimer's when combined with European data. Carriers mostly had Caucasian ancestry. The authors conclude these variants also influence risk in Argentina and may have a European origin.
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Study details
- Study designmeta-analysis
- Evidence strengthHigh
How this study scored 61/100
Published in a peer-reviewed journal, and it is a meta-analysis pooling many studies. Scored zero for sample size, effect reported and studied in people because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Translational psychiatry) |
| Journal's citation record | 2 / 4 | Translational Psychiatry: journal h-index 180 (OpenAlex, 2026-10-29) |
| Study design | 12 / 12 | A meta-analysis pooling many studies |
| Strength of evidence | 5 / 5 | Rated “high” 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 | 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 | A review of other studies — randomisation is not credited here |
| Times cited | 4 / 7 | Cited 53 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 5.9 citations a year over 9 year(s) since 2019 |
| Impact for its field and year | 2 / 6 | Cited 1.3× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 4 other studies in this library |
| Still being cited | 1 / 4 | Cited 13 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Alfredo Ramı́rez: h-index 67 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Inserm: institution h-index 1,988 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 44 institution(s) in 7 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 30705288) |
| Free to read | 2 / 2 | Free to read |
| Total | 61 / 100 | — |
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Read the original
- DOI: 10.1038/s41398-019-0394-9
- PubMed: 30705288
- Original source →
- Free full text: Translational Psychiatry →
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
Dalmasso, M. C., Brusco, L. I., Olivar, N., Muchnik, C., Hanses, C., Milz, E., et al. (2019). Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease. Translational psychiatry. https://doi.org/10.1038/s41398-019-0394-9
Vancouver
Dalmasso MC, Brusco LI, Olivar N, Muchnik C, Hanses C, Milz E, et al. Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease. Translational psychiatry. 2019. doi:10.1038/s41398-019-0394-9. PMID: 30705288.
BibTeX
@article{dalmasso2019-30705288,
author = {Dalmasso, M. C. and Brusco, L. I. and Olivar, N. and Muchnik, C. and Hanses, C. and Milz, E. and Becker, J. and Heilmann-Heimbach, S. and others},
title = {{Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease}},
journal = {Translational psychiatry},
year = {2019},
doi = {10.1038/s41398-019-0394-9},
pmid = {30705288},
url = {https://doi.org/10.1038/s41398-019-0394-9}
}
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