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71/100

✓ Peer-reviewed alzhub usefulness score 71 out of 100. Inflammation and the immune system

Topic: Brain proteins, microglia and lab models

Background Converging evidence suggests that immune-mediated dysfunction plays an important role in the pathogenesis of frontotemporal dementia (FTD). Although genetic studies have shown that immune-associated loci are associated with increased FTD risk, a systematic investigation of genetic overlap between immune-mediated diseases and the spectrum of FTD-related disorders has not been performed. Methods and findings Using large genome-wide association studies (GWASs) (total n = 192,886 cases and controls) and recently developed tools to quantify genetic overlap/pleiotropy, we systematically identified single nucleotide polymorphisms (SNPs) jointly associated with FTD-related disorders-namely, FTD, corticobasal degeneration (CBD), progressive supranuclear palsy (PSP), and amyotrophic lateral sclerosis (ALS)-and 1 or more immune-mediated diseases including Crohn disease, ulcerative colitis (UC), rheumatoid arthritis (RA), type 1 diabetes (T1D), celiac disease (CeD), and psoriasis. We found up to 270-fold genetic enrichment between FTD and RA, up to 160-fold genetic enrichment between FTD and UC, up to 180-fold genetic enrichment between FTD and T1D, and up to 175-fold genetic enrichment between FTD and CeD. In contrast, for CBD and PSP, only 1 of the 6 immune-mediated diseases produced genetic enrichment comparable to that seen for FTD, with up to 150-fold genetic enrichment between CBD and CeD and up to 180-fold enrichment between PSP and RA. Further, we found minimal enrichment between ALS and the immune-mediated diseases tested, with the highest levels of enrichment between ALS and RA (up to 20-fold). For FTD, at a conjunction false discovery rate Conclusions We show immune-mediated genetic enrichment specifically in FTD, particularly within the HLA region. Our genetic results suggest that for a subset of patients, immune dysfunction may contribute to FTD risk. These findings have potential implications for clinical trials targeting immune dysfunction in patients with FTD.

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

APA 7th

Broce, I., Karch, C. M., Wen, N., Fan, C. C., Wang, Y., Tan, C. H., et al. (2018). Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies. PLoS medicine. https://doi.org/10.1371/journal.pmed.1002487

Vancouver

Broce I, Karch CM, Wen N, Fan CC, Wang Y, Tan CH, et al. Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies. PLoS medicine. 2018. doi:10.1371/journal.pmed.1002487. PMID: 29315334.

BibTeX

@article{broce2018-29315334,
  author  = {Broce, I. and Karch, C. M. and Wen, N. and Fan, C. C. and Wang, Y. and Tan, C. H. and Kouri, N. and Ross, O. A. and others},
  title   = {{Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies}},
  journal = {PLoS medicine},
  year    = {2018},
  doi     = {10.1371/journal.pmed.1002487},
  pmid    = {29315334},
  url     = {https://doi.org/10.1371/journal.pmed.1002487}
}

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Key findings

Background Converging evidence suggests that immune-mediated dysfunction plays an important role in the pathogenesis of frontotemporal dementia (FTD).
Although genetic studies have shown that immune-associated loci are associated with increased FTD risk, a systematic investigation of genetic overlap between immune-mediated diseases and the spectrum of FTD-related disorders has not been performed.
Methods and findings Using large genome-wide association studies (GWASs) (total n = 192,886 cases and controls) and recently developed tools to quantify genetic overlap/pleiotropy, we systematically identified single nucleotide polymorphisms (SNPs) jointly associated with FTD-related disorders-namely, FTD, corticobasal degeneration (CBD), progressive supranuclear palsy (PSP), and amyotrophic lateral sclerosis (ALS)-and 1 or more immune-mediated diseases including Crohn disease, ulcerative colitis (UC), rheumatoid arthritis (RA), type 1 diabetes (T1D), celiac disease (CeD), and psoriasis.
We found up to 270-fold genetic enrichment between FTD and RA, up to 160-fold genetic enrichment between FTD and UC, up to 180-fold genetic enrichment between FTD and T1D, and up to 175-fold genetic enrichment between FTD and CeD.
Further, we found minimal enrichment between ALS and the immune-mediated diseases tested, with the highest levels of enrichment between ALS and RA (up to 20-fold).

Why it matters

Pooling genome-wide association data (192,886 cases and controls in total), this study found that genetic variants linked to frontotemporal dementia (FTD) overlap strongly with those for several immune diseases: up to 270-fold enrichment with rheumatoid arthritis and 160- to 180-fold with ulcerative colitis, type 1 diabetes and celiac disease. The overlap was weaker or narrower in related conditions (PSP, CBD) and minimal in ALS, and the authors locate it "particularly within the HLA region." They conclude that immune dysfunction "may contribute to FTD risk" for a subset of patients. This is a genetic association in FTD, not Alzheimer's disease, and it does not test any treatment.

Study details

Study designmeta-analysis
Participants192,886
Evidence strengthLow

How this study scored 71/100

Published in a peer-reviewed journal, and it is a meta-analysis pooling many studies. Scored zero for effect reported because the record does not state it. We have no data on senior author's track record, so that was left out: it earned 68 of the 96 points we could judge it on, which is 71 out of 100.

Component	Points	Why
Journal tier	7 / 10	Tier 3 — peer-reviewed journal (PLoS medicine)
Journal's citation record	3 / 4	PLoS Medicine: journal h-index 350 (OpenAlex, 2026-10-29)
Study design	12 / 12	A meta-analysis pooling many studies
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	2018 — within 10 year(s) of the newest study here
Sample size	4 / 4	192,886 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)
Randomized / blinded	0 / 2	A review of other studies — randomization is not credited here
Times cited	5 / 7	Cited 185 times (OpenAlex, 2026-10-10)
Citations per year	3 / 5	18.5 citations a year over 10 year(s) since 2018
Impact for its field and year	4 / 6	Cited 19.5× the average for papers of its field and year (OpenAlex FWCI)
Cited by studies here	3 / 6	Cited by 10 other studies in this library
Still being cited	2 / 4	Cited 29 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 College London: institution h-index 2,029 (OpenAlex)
Multicenter collaboration	3 / 3	OpenAlex lists 19 institution(s) in 5 countries
Indexed in PubMed	2 / 2	Indexed in PubMed (PMID 29315334)
Free to read	2 / 2	Free to read
Points	68 / 96	Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 68 of the 96 points we could judge it on is 71 out of 100.
Total	71 / 100	—

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