Evidence map›Paper›PMID 39567769›Full record

ArticleNature cardiovascular research2024

Genetic and phenotypic architecture of human myocardial trabeculation.

Kathryn A McGurk, Mengyun Qiao, Sean L Zheng, Arunashis Sau, Albert Henry, Antonio Luiz P Ribeiro, Antônio H Ribeiro, Fu Siong Ng, R Thomas Lumbers, Wenjia Bai and 2 more

Abstract read
In one paragraph

Article in Nature cardiovascular research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing 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

14 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Review
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Circulating Cardiovascular Proteomic Associations With Genetics and Disease.Circulation. Genomic and precision medicine · 2025
    Article
  13. Genetic and Environmental Contributors To Congenital Heart Disease.Current treatment options in cardiovascular medicine · 2025
    Review
  14. Review
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

12 authors.

Kathryn A McGurkNational Heart and Lung Institute, Imperial College London, London, UK. k.mcgurk@imperial.ac.uk.ORCID http://orcid.org/0000-0002-5445-6906
Mengyun QiaoDepartment of Computing, Department of Brain Sciences and Data Science Institute, Imperial College London, London, UK.
Sean L ZhengNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-5762-6392
Arunashis SauNational Heart and Lung Institute, Imperial College London, London, UK.
Albert HenryInstitute of Health Informatics, University College London, London, UK.ORCID http://orcid.org/0000-0001-7422-2288
Antonio Luiz P RibeiroDepartment of Internal Medicine, Faculdade de Medicina, and Telehealth Center and Cardiology Service, Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
Antônio H RibeiroDepartment of Information Technology, Uppsala University, Uppsala, Sweden.ORCID http://orcid.org/0000-0003-3632-8529
Fu Siong NgNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-8681-4368
R Thomas LumbersInstitute of Health Informatics, University College London, London, UK.ORCID http://orcid.org/0000-0002-9077-4741
Wenjia BaiDepartment of Computing, Department of Brain Sciences and Data Science Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0003-2943-7698
James S WareNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-6110-5880
Declan P O'ReganMRC Laboratory of Medical Sciences, Imperial College London, London, UK. declan.oregan@imperial.ac.uk.ORCID http://orcid.org/0000-0002-0691-0270

Funding

Discovery and Characterization of Rare Variant Effects in Dilated Cardiomyopathy via Large-Scale Biobank AnalysisR01HL167509 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Jennifer Below, Quinn Stanton Wells · 2023 to 2026
$2.8M
Calpains as Mediators of Cardiac Ischemic InjuryR01HL080008 · NHLBI · WASHINGTON UNIVERSITY · PI DORN, GERALD W. · 2006 to 2010
$1.9M
SIGNIFICANCE OF MEMBRANE PHOSPHOLIPID ASYMMETRYR01HL027059 · NHLBI · CHILDREN'S HOSPITAL &RES CTR AT OAKLAND · PI LUBIN, BERTRAM HAROLD · 1985 to 1999
–
British Heart Foundation CH/F/24/90015British Heart Foundation (BHF) CH/P/23/80008British Heart Foundation (BHF) FS/IPBSRF/22/27059British Heart Foundation (BHF) RG/19/6/34387British Heart Foundation (BHF) RG/F/22/110078Foundation for the National Institutes of Health (Foundation for the National Institutes of Health, Inc.) 5R01HL167509-02NHLBI NIH HHS R01 HL167509RCUK | Engineering and Physical Sciences Research Council (EPSRC) EP/W01842X/1RCUK | Medical Research Council (MRC) MC_UP_1605/13Sir Jules Thorn Charitable Trust 21JTAWellcome TrustWellcome Trust (Wellcome) [107469/Z/15/Z
6 · The paper itself

Abstract

Cardiac trabeculae form a network of muscular strands that line the inner surfaces of the heart. Their development depends on multiscale morphogenetic processes and, while highly conserved across vertebrate evolution, their role in the pathophysiology of the mature heart is not fully understood. Here we report variant associations across the allele frequency spectrum for trabecular morphology in 47,803 participants of the UK Biobank using fractal dimension analysis of cardiac imaging. We identified an association between trabeculation and rare variants in 56 genes that regulate myocardial contractility and ventricular development. Genome-wide association studies identified 68 loci in pathways that regulate sarcomeric function, differentiation of the conduction system and cell fate determination. We found that trabeculation-associated variants were modifiers of cardiomyopathy phenotypes with opposing effects in hypertrophic and dilated cardiomyopathy. Together, these data provide insights into mechanisms that regulate trabecular development and plasticity, and identify a potential role in modifying monogenic disease expression.

Indexed as

Genome-Wide Association StudyPhenotypeAgedCardiomyopathiesCardiomyopathy, DilatedFemaleGene FrequencyGenetic Predisposition to DiseaseHumansMaleMiddle AgedMyocardial ContractionMyocardiumPolymorphism, Single NucleotideUnited Kingdom

Identifiers

PMID39567769
PMCPMC11634767

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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.