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March 3, 2026Scientific ReportsOpen Access

Genomic-SEM identified a robust latent factor explaining genetic covariation across phenotypes, pinpointing 6 potential causal loci and 29 significant genes, with molecular dynamics revealing CLCNKA mutations disrupt protein conformation and reduce thermal stability.

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Why the study?

Systematic dissection of multidimensional cardiac function phenotypes remains scarce, highlighting the need for integrative models to uncover shared genetic mechanisms.

Population

GWAS summary statistics for six cardiac phenotypes (LVEF, LVSV, LS, RS, RVEF, and NT-proBNP)

Design

Multivariate LD score regression, Genomic-SEM, TWAS, and computational structural modeling study

Authors

XLXiaolin LiYQYalu Qin

Discussion

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Overview

Should not yet change practice in cardiac genetic evaluation; leaves open pathogenic role of CLCNKA and shared cardiac genetic architecture.

Key Points

  • Shared genetic structures impact cardiac function, indicating potential links to CLCNKA mutations.
  • Key performance metrics suggest strong associations between genetic structures and cardiac function abnormalities.
  • Genomic structural equation modeling approach showcases the intricate relationships among multiple genetic factors.
  • Potential implications arise for targeted interventions, though further studies are needed to validate these findings.

Structured PICO

P
Population
GWAS summary statistics for six cardiac phenotypes (left ventricular ejection fraction, left ventricular stroke volume, longitudinal and radial myocardial strain, right ventricular ejection fraction, and N-terminal pro-B-type natriuretic peptide)
O
Outcome
Latent genetic factors and susceptibility loci/genes for cardiac function phenotypessurrogate

Integrative genomic and AI-assisted structural modeling identified shared genetic architecture across cardiac function phenotypes and highlighted the pathogenic potential of CLCNKA mutations.

Cite This Study

Li et al. (2026) studied this question.

synapsesocial.com/papers/69a75befc6e9836116a242a0https://doi.org/10.1038/s41598-025-34415-3
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Genomic structural equation modeling reveals shared genetic structure of cardiac function and structure-function association studies of CLCNKA mutations2025
  2. 2Genomic Structural Equation Modeling Combined With Post‐GWAS Analysis Identifies Two Risk Gene Loci and Functionally Sensitive Genes Associated With Cardiac Conduction Block2026
  3. 3Genomic structural equation modelling provides insights into the shared multivariate genetic architecture of cardio-kidney-metabolic syndrome components2025
  4. 4Genomic Structural Equation Modeling Reveals Shared Genetic Architecture and Pleiotropic Hub Genes of Sepsis-Induced Cardiomyopathy2026
  5. 5New Genetic Loci Implicated in Cardiac Morphology and Function Using Three-Dimensional Population Phenotyping2025 · 3 citations