Evidence map›Paper›PMID 41646816›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Integration of dilated cardiomyopathy genomics with transcriptomics from the human heart implicates regulatory molecular mechanisms.

Connor S Murray, Chaojie Yang, Suet Nee Chen, Sharon Graw, Anis Karimpour-Fard, Joseph Cleveland, Shanshan Gao, Hae Kyung Im, Heather E Wheeler, Amrut V Ambardekar and 10 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

20 authors.

Connor S MurrayDepartment of Genome Sciences, University of Virginia School of Medicine, Charlottesville, VA, USA.ORCID 0000-0002-8302-6585
Chaojie YangDepartment of Genome Sciences, University of Virginia School of Medicine, Charlottesville, VA, USA.
Suet Nee ChenUniversity of Colorado Cardiovascular Institute, Adult Medical Genetics Program, University of Colorado-Anschutz Medical Campus, Aurora, CO, USA.
Sharon GrawUniversity of Colorado Cardiovascular Institute, Adult Medical Genetics Program, University of Colorado-Anschutz Medical Campus, Aurora, CO, USA.
Anis Karimpour-FardDivision of General Internal Medicine, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Joseph ClevelandUniversity of Colorado Cardiovascular Institute, Adult Medical Genetics Program, University of Colorado-Anschutz Medical Campus, Aurora, CO, USA.
Shanshan GaoUniversity of Colorado Cardiovascular Institute, Adult Medical Genetics Program, University of Colorado-Anschutz Medical Campus, Aurora, CO, USA.
Hae Kyung ImSection of Genetic Medicine, University of Chicago, Chicago, IL, USA.
Heather E WheelerDepartment of Biology, Loyola University Chicago, Chicago, IL, USA.ORCID 0000-0003-1365-9667
Amrut V AmbardekarDepartment of Medicine, Division of Cardiology and Consortium for Fibrosis Research & Translation, University of Colorado Anschutz Medical Campus, Denver, CO, USA.
Jordan R H HoffmanDepartment of Surgery, Division of Cardiothoracic Surgery, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Stacey GabrielBroad Institute of MIT & Harvard, Cambridge, MA, USA.
Namrata GuptaBroad Institute of MIT & Harvard, Cambridge, MA, USA.
Kristin ArdlieBroad Institute of MIT & Harvard, Cambridge, MA, USA.
Jerome I RotterThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Kent D TaylorThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Stephen S RichDepartment of Genome Sciences, University of Virginia School of Medicine, Charlottesville, VA, USA.
Luisa MestroniUniversity of Colorado Cardiovascular Institute, Adult Medical Genetics Program, University of Colorado-Anschutz Medical Campus, Aurora, CO, USA.
Ani ManichaikulDepartment of Genome Sciences, University of Virginia School of Medicine, Charlottesville, VA, USA.
Matthew R G TaylorUniversity of Colorado Cardiovascular Institute, Adult Medical Genetics Program, University of Colorado-Anschutz Medical Campus, Aurora, CO, USA.

Funding

Colorado Clinical and Translational Sciences Institute (CCTSI)UM1TR004399 · NCATS · UNIVERSITY OF COLORADO DENVER · PI JANINE A HIGGINS, RONALD J. SOKOL · 2023 to 2026
$30.7M
Studies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5M
CHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5M
Rare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9M
Rare variants and NHLBI traits in deeply phenotyped cohortsU01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2017 to 2018
$5.6M
Integrative genomic and transcriptomic investigation of human heart failure mechanismsR01HL170012 · NHLBI · UNIVERSITY OF COLORADO DENVER · PI ANI Wang MANICHAIKUL, Matthew R Taylor · 2024 to 2026
$1.9M
NCATS NIH HHS UM1 TR004399NHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL170012NHLBI NIH HHS U01 HL120393
6 · The paper itself

Abstract

Heart failure (HF) is a leading global cause of morbidity and mortality, yet the regulatory molecular mechanisms that link genetic variation to cardiac dysfunction remain elusive. To bridge this gap, we created the Trans-Omics for Precision Medicine in Congestive Heart Failure (TOPCHeF) resource, a multi-omics dataset comprising >700 human left-ventricular tissue samples, including dilated cardiomyopathy (DCM), ischemic cardiomyopathy (ICM), and non-failing controls, with paired whole-genome and RNA sequencing. By mapping expression- (eQTL) and splicing- (sQTL) quantitative trait loci directly in diseased human hearts, we identified over 10,000 transcripts with significant eQTL and 8,600 isoforms with significant sQTL, across both coding and non-coding genes, many of which overlap loci previously associated with HF and emerging novel gene associations. Single-locus colocalization with a largescale DCM genome-wide association study revealed 21 expression and 17 splicing-QTL that share causal variants with disease risk. These include known Mendelian cardiomyopathy risk genes such as

Indexed as

colocalizationdilated cardiomyopathyeQTLGWASHeart failureischemic cardiomyopathysQTLTOPMed

Identifiers

PMID41646816
PMCPMC12870565

What OpenQuestion holds

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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.