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Updated: Jan 25, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Identification of biomarkers correlated with hypertrophic cardiomyopathy with co-expression analysis

Ran Chen1, Tiantian Ge1, Wanying Jiang1

  • 1Department of Cardiology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, P.R. China.

Journal of Cellular Physiology
|May 7, 2019
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) involves immune system genes. Researchers identified nine key genes and two modules significantly associated with HCM, offering potential therapeutic targets for this common genetic heart disease.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Biology
  • Immunology

Background:

  • Hypertrophic cardiomyopathy (HCM) is the most prevalent genetic heart condition.
  • Identifying biomarkers is crucial for understanding HCM prognosis and developing treatments.

Purpose of the Study:

  • To identify key gene modules and candidate biomarkers associated with the clinical prognosis of patients with HCM.
  • To explore the role of the immune system in HCM pathogenesis.

Main Methods:

  • Weighted Gene Co-expression Network Analysis (WGCNA) was used to construct a co-expression network of hub genes.
  • Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses were performed.
  • Quantitative real-time polymerase chain reaction (RT-PCR) was used to validate hub gene expression.

Main Results:

  • Two gene modules (yellow and blue) and nine hub genes (TYROBP, STAT3, CSF1R, ITGAM, SYK, ITGB2, LILRB2, LYN, HCK) were significantly correlated with HCM.
  • Enrichment analyses indicated that differentially expressed genes were primarily associated with immune system processes.
  • Validation confirmed increased expression of TYROBP, CSF1R, and SYK in a rat model of HCM.

Conclusions:

  • The study identified key molecular players and pathways implicated in HCM.
  • The findings highlight a significant role for the immune system in HCM.
  • The identified genes and pathways represent potential future therapeutic targets for HCM.

Keywords:
HCMWGCNAco-expressionhub genehypertrophic cardiomyopathy

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