Evidence map›Paper›PMID 41732108›Full record

ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2026

Neuroimaging PheWAS and molecular phenotyping implicate PSMC3 in Alzheimer's disease.

Xavier Bledsoe, Ting-Chen Wang, Yiyang Wu, Derek Archer, Hung Hsin Chen, Adam C Naj, William S Bush, Timothy J Hohman, Logan Dumitrescu, Jennifer E Below and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Neuroimaging PheWAS and molecular phenotyping implicate PSMC3 in Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors.

Xavier BledsoeVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Ting-Chen WangVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA.ORCID https://orcid.org/0000-0001-6139-3168
Yiyang WuVanderbilt Memory and Alzheimer's Center, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Derek ArcherVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Hung Hsin ChenVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Adam C NajDepartment of Biostatistics, Epidemiology, and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
William S BushDepartment of Population and Quantitative Health Sciences, Cleveland Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
Timothy J HohmanVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Logan DumitrescuVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Jennifer E BelowVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Eric R GamazonVanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tennessee, USA.ORCID https://orcid.org/0000-0003-4204-8734

Funding

Sex-Specific Genetic Drivers of Alzheimer's Disease EndophenotypesR01AG073439 · NIA · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Logan C Dumitrescu · 2021 to 2026
$4.8M
Functional genetic analyses of existing data resources to expand AD gene discoveryRF1AG061351 · NIA · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BELOW, JENNIFER, BUSH, WILLIAM S · 2019 to 2019
$3.0M
Haplotype-aware models of gene and isoform expression with application to genetic studies of disease in diverse populationsR01GM140287 · NIGMS · SEATTLE CHILDREN'S HOSPITAL · PI GAMAZON, ERIC R, MOHAMMADI, PEJMAN · 2021 to 2024
$2.8M
Functional Genomics: A Phenome-wide SurveyR35HG010718 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GAMAZON, ERIC R · 2019 to 2023
$2.2M
Advancing Multi-Omics and Electronic Health Records Computational MethodologiesR01HG011138 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GAMAZON, ERIC R · 2020 to 2024
$1.6M
Advancing drug repositioning and development for Alzheimer's Disease using functional genomics and computational phenomicsR56AG068026 · NIA · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GAMAZON, ERIC R · 2021 to 2022
$1.5M
NHGRI NIH HHS R01 HG011138NHGRI NIH HHS R01HG011138NHGRI NIH HHS R35 HG010718NHGRI NIH HHS R35HG010718NIA NIH HHS R01 AG073439NIA NIH HHS R01AG073439NIA NIH HHS R56 AG068026NIA NIH HHS R56AG068026NIA NIH HHS RF1AG061351NIGMS NIH HHS R01 GM140287NIGMS NIH HHS R01GM140287NIH HHSScott Hamilton CARES Foundation
6 · The paper itself

Abstract

introductionNeuroimaging genetics has advanced our understanding of Alzheimer's disease (AD); however, frameworks using functional genomics are needed to elucidate mechanisms connecting loci to neurological outcomes. To address this need, we explored relationships between AD-associated variants and disease via their impact on gene expression and neuroanatomical phenotypes.

methodsWe mapped established AD genes to neuroimaging traits using the NeuroimaGene Atlas and predicted transcript-driven neurological features of AD by comparing gene-derived neuroimaging features with clinical neuroimaging data. Genetic covariance analyses were performed to characterize shared genetic architecture between AD endophenotypes and neuroimaging features, and to identify neuroimaging features associated with a family history of dementia.

resultsOur analyses implicate PSMC3 as a contributor to AD pathophysiology and identify AD endophenotypes, including dementia family history, linked to frontal cortex thickness and volume, as well as changes in cerebrospinal fluid volume. DISCUSSION: Our findings prioritize AD genes whose regulation is associated with vulnerable brain regions, offering a potential mechanistic framework for downstream functional validation.

Indexed as

Alzheimer DiseaseBrainNeuroimagingEndophenotypesGenome-Wide Association StudyHumansPhenotypeAlzheimer's diseasedementia family historygenetic covarianceNeuroimaGeneneuroimaging‐derived phenotypestranscriptome‐wide association studies

Identifiers

PMID41732108
PMCPMC12930104

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Registered trials

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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.