Evidence map›Paper›PMID 33983834›Full record

ReviewCirculation research2021

The Complex and Diverse Genetic Architecture of Dilated Cardiomyopathy.

Ray E Hershberger, Jason Cowan, Elizabeth Jordan, Daniel D Kinnamon

Registry-linked trialOpen access · bronzeAbstract readReview
In one paragraph

Review in Circulation research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03037632 (Precision Medicine for Dilated Cardiomyopathy in European and African Ancestry), which is not on this map. Cited by 52 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
52citing papers in PubMed, 1 pooled it
11.3field-weighted citation impact, top 1% 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.

NCT03037632 naactive not recruitingnot on this map

Precision Medicine for Dilated Cardiomyopathy in European and African Ancestry

TypeinterventionalSponsorRay HershbergerRan2016 to 2026Enrolled6,500ConditionsIdiopathic Dilated CardiomyopathyArmsFamily Heart Talk Booklet
3 · Its place in the literature

Who cites it

52 citing papers in PubMed, 1 synthesis or guideline pooled it, 90 citations in OpenAlex.

  1. Pooled it
  2. Effectiveness of theCirculation · 2023
    Trial
  3. Trial
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
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  14. Review
  15. Article
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  17. Article
  18. Regulatory mechanisms of mAmerican journal of translational research · 2025
    Review
  19. Review
  20. 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

4 authors at 1 institution in 1 country.

Ray E HershbergerDivisions of Cardiovascular Medicine (R.E.H.), The Ohio State University Wexner Medical Center, Columbus.
Jason CowanHuman Genetics (R.E.H., J.C., E.J., D.D.K.), The Ohio State University Wexner Medical Center, Columbus.
Elizabeth JordanHuman Genetics (R.E.H., J.C., E.J., D.D.K.), The Ohio State University Wexner Medical Center, Columbus.
Daniel D KinnamonHuman Genetics (R.E.H., J.C., E.J., D.D.K.), The Ohio State University Wexner Medical Center, Columbus.
The Ohio State University Wexner Medical Center · US

Funding

Precision Medicine for Dilated Cardiomyopathy in European and African AncestryR01HL128857 · NHLBI · OHIO STATE UNIVERSITY · PI HERSHBERGER, RAY E. · 2015 to 2020
$12.4M
Precision Medicine for Dilated Cardiomyopathy-Cardiac Magnetic Resonance to Identify Early Family PhenotypesR01HL148581 · NHLBI · OHIO STATE UNIVERSITY · PI HERSHBERGER, RAY E., KINNAMON, DANIEL DAVIS · 2020 to 2024
$3.2M
Precision Medicine for Dilated Cardiomyopathy—Novel Assessment of Cardiac Mechanics via Speckle Tracking Echocardiography to Identify Early PhenotypesR01HL149423 · NHLBI · OHIO STATE UNIVERSITY · PI HERSHBERGER, RAY E., KINNAMON, DANIEL DAVIS · 2019 to 2022
$1.6M
NHLBI NIH HHS R01 HL128857NHLBI NIH HHS R01 HL148581NHLBI NIH HHS R01 HL149423
6 · The paper itself

Abstract

Our insight into the diverse and complex nature of dilated cardiomyopathy (DCM) genetic architecture continues to evolve rapidly. The foundations of DCM genetics rest on marked locus and allelic heterogeneity. While DCM exhibits a Mendelian, monogenic architecture in some families, preliminary data from our studies and others suggests that at least 20% to 30% of DCM may have an oligogenic basis, meaning that multiple rare variants from different, unlinked loci, determine the DCM phenotype. It is also likely that low-frequency and common genetic variation contribute to DCM complexity, but neither has been examined within a rare variant context. Other types of genetic variation are also likely relevant for DCM, along with gene-by-environment interaction, now established for alcohol- and chemotherapy-related DCM. Collectively, this suggests that the genetic architecture of DCM is broader in scope and more complex than previously understood. All of this elevates the impact of DCM genetics research, as greater insight into the causes of DCM can lead to interventions to mitigate or even prevent it and thus avoid the morbid and mortal scourge of human heart failure.

Indexed as

AllelesGenetic LociGenetic VariationCardiomyopathy, DilatedCohort StudiesConnectinCross-Sectional StudiesGene-Environment InteractionHumansModels, StatisticalPhenotypeSarcomeresConnectinTTN protein, humancardiomyopathiesgeneticsgenomicsheart failurehumans

Identifiers

PMID33983834
PMCPMC8158434
OpenAlexW3162365151

What OpenQuestion holds

Textmetadata
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Registered trials

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.