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Heterozygous TREM2 mutations in frontotemporal dementia
Borroni B, Ferrari F, Galimberti D, Nacmias B, Barone C, Bagnoli S, Fenoglio C, Piaceri I et al.. Neurobiology of aging, 2013-10-16
Topic: Brain proteins, microglia and lab models
A causative association was recently demonstrated between homozygous TREM2 mutations and frontotemporal dementia (FTD)-like syndrome and between heterozygous TREM2 exon2 genetic variations and late-onset Alzheimer's disease (AD). The objective of this study was to evaluate whether heterozygous TREM2 genetic variations might be associated to the risk of FTD. TREM2 exon 2 was sequenced in a group of 1030 subjects-namely, 352 patients fulfilling clinical criteria for FTD, 484 healthy control subjects (HCs), and 194 patients with AD.
Key findings
- The objective of this study was to evaluate whether heterozygous TREM2 genetic variations might be associated to the risk of FTD.
- TREM2 exon 2 was sequenced in a group of 1030 subjects-namely, 352 patients fulfilling clinical criteria for FTD, 484 healthy control subjects (HCs), and 194 patients with AD.
- The mutation frequency and the associated clinical characteristics were analyzed.
- We identified 8 missense and nonsense mutations in TREM2 exon 2 in 24 subjects.
Why it matters
This study asked whether carrying one altered copy of the TREM2 gene is linked to the risk of frontotemporal dementia (FTD). It read part of the gene (exon 2) in 1,030 people, 352 with FTD, 484 healthy controls and 194 with Alzheimer's disease, and found 8 different missense or nonsense mutations in 24 of them. This record does not say how those 24 carriers were split between the groups, so it does not show whether the mutations were more common in FTD, and it does not test any treatment or prevention.
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Study details
- Participants1,030
- Effect size4.0%; 1.0%; 2.6%
- Evidence strengthLow
How this study scored 57/100
Published in a peer-reviewed journal. Scored zero for study design and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Neurobiology of aging) |
| Journal's citation record | 3 / 4 | Neurobiology of Aging: journal h-index 263 (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 | 3 / 4 | 1,030 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 | 5 / 7 | Cited 173 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 12.4 citations a year over 14 year(s) since 2014 |
| Impact for its field and year | 4 / 6 | Cited 8.8× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 4 / 6 | Cited by 48 other studies in this library |
| Still being cited | 2 / 4 | Cited 33 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Alessandro Padovani: h-index 102 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | University of Milan: institution h-index 1,023 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 6 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 24139279) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 57 / 100 | — |
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Read the original
- DOI: 10.1016/j.neurobiolaging.2013.09.017
- PubMed: 24139279
- Original source →
- Free full text: Neurobiology of Aging →
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
Borroni, B., Ferrari, F., Galimberti, D., Nacmias, B., Barone, C., Bagnoli, S., et al. (2014). Heterozygous TREM2 mutations in frontotemporal dementia. Neurobiology of aging. https://doi.org/10.1016/j.neurobiolaging.2013.09.017
Vancouver
Borroni B, Ferrari F, Galimberti D, Nacmias B, Barone C, Bagnoli S, et al. Heterozygous TREM2 mutations in frontotemporal dementia. Neurobiology of aging. 2014. doi:10.1016/j.neurobiolaging.2013.09.017. PMID: 24139279.
BibTeX
@article{borroni2014-24139279,
author = {Borroni, B. and Ferrari, F. and Galimberti, D. and Nacmias, B. and Barone, C. and Bagnoli, S. and Fenoglio, C. and Piaceri, I. and others},
title = {{Heterozygous TREM2 mutations in frontotemporal dementia}},
journal = {Neurobiology of aging},
year = {2014},
doi = {10.1016/j.neurobiolaging.2013.09.017},
pmid = {24139279},
url = {https://doi.org/10.1016/j.neurobiolaging.2013.09.017}
}
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