Evidence map›Paper›PMID 41172738›Full record

SynthesisEBioMedicine2025

A systematic review of GWAS on CMR imaging traits: genetic insights into cardiovascular structure, function, and diseases.

Sakina Lakda, Rhodri Huw Davies, Aroon Dinesh Hingorani, Nikhil Paliwal

Abstract readSystematic Review
In one paragraph

Synthesis in EBioMedicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Observational
  2. Article
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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.

Sakina LakdaUCL Medical School, London, UK.
Rhodri Huw DaviesInstitute of Cardiovascular Science, University College London, London, UK; British Heart Foundation Research Accelerator, University College London, London, UK.
Aroon Dinesh HingoraniInstitute of Cardiovascular Science, University College London, London, UK; British Heart Foundation Research Accelerator, University College London, London, UK.
Nikhil PaliwalInstitute of Cardiovascular Science, University College London, London, UK; British Heart Foundation Research Accelerator, University College London, London, UK. Electronic address: n.paliwal@ucl.ac.uk.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCardiac magnetic resonance (CMR) imaging enables precise quantification of cardiac structure/function in biobanks, facilitating genetic investigation of cardiovascular traits. Genome-wide association studies (GWAS) have emerged as a useful tool to identify common and rare genetic variants associated with cardiovascular diseases (CVDs).

methodsWe conducted a systematic review of CMR-based cardiac trait GWAS to generate an overview of phenotypes evaluated, loci identified and relationships with CVD outcomes.

findingsWe identified 149 risk loci associated with chamber-specific cardiac traits, revealing fundamental insights into cardiac genetic architecture. Our findings demonstrate that ventricular structure and function are predominantly governed by genes such as TTN (identified in 47.1% of studies) and BAG3 (29.4%) showing consistent associations across both left and right ventricular traits. In contrast, aortic measures were strongly associated with ELN variants (23.5%), highlighting specialised genetic control of vascular properties. Notably, several genes influence multiple cardiac chambers, with TTN variants associated with both left and right ventricular volumes and function, while BAG3 and PTPN11 regulate biventricular contractility, and TBX5 impacts ventricular and atrial development.

interpretationBy identifying key genetic variants linked with CMR-derived cardiac traits, this review enhances our understanding of the genetics of CVDs and other medical conditions.

fundingBritish Heart Foundation Accelerator Award (AA/18/6/34223) and NIHR University College London Hospitals Biomedical Research Centre.

Indexed as

Cardiovascular DiseasesGenome-Wide Association StudyMagnetic Resonance ImagingGenetic Predisposition to DiseaseHumansPhenotypeQuantitative Trait LociCardiac magnetic resonance imaging (CMR)Cardiac structure and functionCardiovascular disease (CVD)Genome-wide association studies (GWAS)

Identifiers

PMID41172738
PMCPMC12616015

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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.