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Frontotemporal dementia and its subtypes: a genome-wide association study
Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, Dobson-Stone C, Brooks WS et al.. The Lancet. Neurology, 2014-07-01
Topic: Risk, prevention and care in population studies
Background Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes-MAPT, GRN, and C9orf72--have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder. Methods We did a two-stage genome-wide association study on clinical FTD, analysing samples from 3526 patients with FTD and 9402 healthy controls. To reduce genetic heterogeneity, all participants were of European ancestry. In the discovery phase (samples from 2154 patients with FTD and 4308 controls), we did separate association analyses for each FTD subtype (behavioural variant FTD, semantic dementia, progressive non-fluent aphasia, and FTD overlapping with motor neuron disease [FTD-MND]), followed by a meta-analysis of the entire dataset. We carried forward replication of the novel suggestive loci in an independent sample series (samples from 1372 patients and 5094 controls) and then did joint phase and brain expression and methylation quantitative trait loci analyses for the associated (p Findings We identified novel associations exceeding the genome-wide significance threshold (p Interpretation Our findings suggest that immune system processes (link to 6p21.3) and possibly lysosomal and autophagy pathways (link to 11q14) are potentially involved in FTD. Our findings need to be replicated to better define the association of the newly identified loci with disease and to shed light on the pathomechanisms contributing to FTD. Funding The National Institute of Neurological Disorders and Stroke and National Institute on Aging, the Wellcome/MRC Centre on Parkinson's disease, Alzheimer's Research UK, and Texas Tech University Health Sciences Center.
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APA 7th
Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B., et al. (2014). Frontotemporal dementia and its subtypes: a genome-wide association study. The Lancet. Neurology. https://doi.org/10.1016/s1474-4422(14)70065-1
Vancouver
Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, et al. Frontotemporal dementia and its subtypes: a genome-wide association study. The Lancet. Neurology. 2014. doi:10.1016/s1474-4422(14)70065-1. PMID: 24943344.
BibTeX
@article{ferrari2014-24943344,
author = {Ferrari, R. and Hernandez, D. G. and Nalls, M. A. and Rohrer, J. D. and Ramasamy, A. and Kwok, J. B. and Dobson-Stone, C. and Brooks, W. S. and others},
title = {{Frontotemporal dementia and its subtypes: a genome-wide association study}},
journal = {The Lancet. Neurology},
year = {2014},
doi = {10.1016/s1474-4422(14)70065-1},
pmid = {24943344},
url = {https://doi.org/10.1016/s1474-4422(14)70065-1}
}
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Key findings
- Mutations in three genes-MAPT, GRN, and C9orf72--have been associated with FTD.
- We sought to identify novel genetic risk loci associated with the disorder.
- We carried forward replication of the novel suggestive loci in an independent sample series (samples from 1372 patients and 5094 controls) and then did joint phase and brain expression and methylation quantitative trait loci analyses for the associated (p<5 × 10(-8)) single-nucleotide polymorphisms.
- Our findings need to be replicated to better define the association of the newly identified loci with disease and to shed light on the pathomechanisms contributing to FTD.
Why it matters
This genetic study found new gene regions linked to frontotemporal dementia, pointing to immune system processes and possibly lysosomal and autophagy pathways. The authors state these findings need to be replicated, so no treatment or prevention follows yet.
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Study details
- Study designmeta-analysis
- Participants3,526
- Evidence strengthHigh
How this study scored 78/100
Published in a leading specialty journal, and it is a meta-analysis pooling many studies. Scored zero for effect reported because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 9 / 10 | Tier 2 — leading specialty journal (The Lancet. Neurology) |
| Journal's citation record | 3 / 4 | The Lancet Neurology: journal h-index 457 (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 | 1 / 5 | 2014 — within 20 year(s) of the newest study here |
| Sample size | 3 / 4 | 3,526 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 | A review of other studies — randomisation is not credited here |
| Times cited | 6 / 7 | Cited 386 times (OpenAlex, 2026-10-10) |
| Citations per year | 4 / 5 | 27.6 citations a year over 14 year(s) since 2014 |
| Impact for its field and year | 4 / 6 | Cited 18.1× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 3 / 6 | Cited by 16 other studies in this library |
| Still being cited | 3 / 4 | Cited 93 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 4 / 4 | Last-listed author Martin N. Rossor: h-index 135 (OpenAlex, whole career) |
| Institution's track record | 3 / 3 | National Institutes of Health: institution h-index 2,723 (OpenAlex) |
| Multi-centre collaboration | 3 / 3 | OpenAlex lists 82 institution(s) in 12 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 24943344) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 78 / 100 | — |
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Read the original
- DOI: 10.1016/s1474-4422(14)70065-1
- PubMed: 24943344
- Original source →
- Free full text: PubMed Central →
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
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