Evidence map›Paper›PMID 36813468›Full record

ArticleCerebral cortex (New York, N.Y. : 1991)2023

Genetic overlap between cortical brain morphometry and frontotemporal dementia risk.

Santiago Diaz-Torres, Natalia Ogonowski, Luis M García-Marín, Luke W Bonham, Claudia Duran-Aniotz, Jennifer S Yokoyama, Miguel E Rentería

Open access · bronzeAbstract read
In one paragraph

Article in Cerebral cortex (New York, N.Y. : 1991), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 36% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 4 institutions in 4 countries.

Santiago Diaz-TorresMental Health & Neuroscience Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0002-5442-9211
Natalia OgonowskiLatin American Brain Health Institute (BrainLat), Universidad Adolfo Ibáñez, Santiago, Chile.
Luis M García-MarínMental Health & Neuroscience Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Luke W BonhamMemory and Aging Center, University of California, San Francisco, CA, United States.
Claudia Duran-AniotzLatin American Brain Health Institute (BrainLat), Universidad Adolfo Ibáñez, Santiago, Chile.
Jennifer S YokoyamaMemory and Aging Center, University of California, San Francisco, CA, United States.
Miguel E RenteríaMental Health & Neuroscience Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
The University of Queensland · AUAdolfo Ibáñez University · CLUniversity Memory and Aging Center · USUniversity of California, San Francisco · US

Funding

Research Education ComponentP30AG062422 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Gil Dan Rabinovici · 2019 to 2026
$36.9M
Tau Metabolism in FTD: From Gene Mutations to Molecular Chaperones and Lysosomal ProteasesU54NS123985 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KAO, AIMEE · 2021 to 2025
$9.0M
US-South American Initiative for Genetic-Neural-Behavioral Interactions in Human Neurodegenerative ResearchR01AG057234 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Claudia Duran-Aniotz, Agustin M. Ibanez · 2019 to 2026
$6.1M
Elucidating clinical heterogeneity in early-onset AD via genomics, transcriptomics, and neuroimagingR01AG062588 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI YOKOYAMA, JENNIFER S · 2019 to 2023
$4.0M
NIA NIH HHS P30 AG062422NIA NIH HHS R01 AG057234NIA NIH HHS R01 AG062588NINDS NIH HHS U54 NS123985
6 · The paper itself

Abstract

Frontotemporal dementia (FTD) has a complex genetic etiology, where the precise mechanisms underlying the selective vulnerability of brain regions remain unknown. We leveraged summary-based data from genome-wide association studies (GWAS) and performed LD score regression to estimate pairwise genetic correlations between FTD risk and cortical brain imaging. Then, we isolated specific genomic loci with a shared etiology between FTD and brain structure. We also performed functional annotation, summary-data-based Mendelian randomization for eQTL using human peripheral blood and brain tissue data, and evaluated the gene expression in mice targeted brain regions to better understand the dynamics of the FTD candidate genes. Pairwise genetic correlation estimates between FTD and brain morphology measures were high but not statistically significant. We identified 5 brain regions with a strong genetic correlation (rg > 0.45) with FTD risk. Functional annotation identified 8 protein-coding genes. Building upon these findings, we show in a mouse model of FTD that cortical N-ethylmaleimide sensitive factor (NSF) expression decreases with age. Our results highlight the molecular and genetic overlap between brain morphology and higher risk for FTD, specifically for the right inferior parietal surface area and right medial orbitofrontal cortical thickness. In addition, our findings implicate NSF gene expression in the etiology of FTD.

Indexed as

Frontotemporal DementiaAnimalsBrainFrontal LobeGenome-Wide Association StudyHumansMagnetic Resonance ImagingMiceParietal Lobefrontotemporal dementiagene expressiongenetic overlapMRIneuroimaging

Identifiers

PMID36813468
PMCPMC10267623
OpenAlexW4321486877

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.