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  1. Home
  3. Integrative Transcriptomics And Machine Learning Identify Macrophage-associated Biomarkers In Hypertrophic Cardiomyopathy.
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  3. Integrative Transcriptomics And Machine Learning Identify Macrophage-associated Biomarkers In Hypertrophic Cardiomyopathy.

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Integrative Transcriptomics and Machine Learning Identify Macrophage-Associated Biomarkers in Hypertrophic

Jianzhi Zhao1, Ximiao Su1, Jiali Wu1

  • 1Departments of Cardiology, Central Laboratory, The First Affiliated Hospital of Harbin Medical University, Harbin 150010, China.

International Journal of Molecular Sciences
|June 12, 2026

View abstract on PubMed

Summary
This summary is machine-generated.

Hypertrophic cardiomyopathy (HCM) involves macrophage dysfunction. This study identifies key genes like F13A1 in macrophages, revealing reduced immune cell interactions and offering potential diagnostic markers for this common genetic heart disease.

Keywords:
hypertrophic cardiomyopathyimmune infiltrationmachine learningmacrophagesingle-cell sequencing

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Area of Science:

  • Cardiovascular Biology
  • Immunology
  • Genetics

Background:

  • Hypertrophic cardiomyopathy (HCM) is a prevalent genetic heart condition.
  • Macrophages are integral to the pathological remodeling observed in HCM.

Purpose of the Study:

  • To elucidate the molecular underpinnings of HCM by examining macrophage gene expression at a single-cell resolution.
  • To identify novel diagnostic biomarkers and understand cellular communication alterations in HCM.

Main Methods:

  • Analysis of published single-cell RNA sequencing (scRNA-seq) datasets (GSE181764, GSE161921) and bulk RNA-seq data (GSE249925).
  • Identification of key cell clusters and hub genes through differential expression and immune infiltration analyses.
  • Intercellular communication analysis and single-cell validation of gene expression.

Main Results:

  • Macrophages were identified as a key cell cluster associated with HCM.
  • Three hub genes (ASPN, F13A1, SORBS2) were identified, with F13A1 showing high macrophage specificity and downregulation in HCM.
  • HCM patients exhibited decreased immune cell subsets and significantly reduced intercellular communication, particularly affecting macrophage signaling.

Conclusions:

  • Macrophage dysfunction and altered intercellular communication are critical in HCM pathogenesis.
  • F13A1 serves as a potential diagnostic marker for HCM.
  • A LASSO-based diagnostic model incorporating IGFBP4, FOS, and CTSC demonstrates high predictive accuracy for HCM.