What question did this study set out to answer?

The aim is to characterize genes associated with cardiomyopathy that have rare variants and to explore their cellular contexts.

January 8, 2026Scientific ReportsOpen Access

Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis

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Key result

Burden analysis of 3584 rare variants revealed 144 gene signatures significantly enriched in pathways related to cardiomyopathy, highlighting cellular heterogeneity's role in disease.

Authors

HJHa-Eun JeongKorea National Institute of Health KKKyung-Hyun Kim YKYoungjun KimKorea National Institute of Health

Discussion

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Implication

Uncovers gene signatures linked to cardiomyopathy in patients, suggesting pathways for targeted interventions.

Key Points

The aim is to characterize genes associated with cardiomyopathy that have rare variants and to explore their cellular contexts.
Conducted whole-genome sequencing on 245 Korean patients with dilated and hypertrophic cardiomyopathy.
Performed burden analysis to identify potentially causative rare variants.
Profiled single-cell transcriptomes to understand cellular interactions relevant to disease.
Analyzed variant pathogenicity, identifying 50 likely pathogenic variants.
Characterized marginal pathways involved in cardiac muscle development and morphogenesis.
Discovered a total of 3584 rare variants, including 50 pathogenic variants.
Identified 144 gene signatures significantly enriched in cardiac-related pathways (FDR < 0.003).
Highlighted dynamic interactions between cardiomyocytes and endothelial cells in heart tissue.
Showed that gene expression varies greatly among different heart cell types, impacting disease manifestation.

Cite This Study

Jeong et al. (2025) studied this question. Burden analysis of 3584 rare variants revealed 144 gene signatures significantly enriched in pathways related to cardiomyopathy, highlighting cellular heterogeneity's role in disease.

synapsesocial.com/papers/6960877dfa51ca23bb9809ea https://doi.org/10.1038/s41598-025-33901-y

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Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis

Discussion

Member takes

Implication

Key Points

Cite This Study

Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis

Discussion

Member takes

Implication

Key Points

Cite This Study

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