Related Experiment Video
Updated: Aug 12, 2025

Author Spotlight: Integrated Multi-Omics Analysis for Unveiling Multicellular Immune Signatures in Clinical Heart Attack Cohorts
Published on: September 20, 2024
Identification of key immune-related genes in dilated cardiomyopathy using bioinformatics analysis
Feng Li1, Tong-Yue Du2, Li-Da Wu1
1Department of Cardiology, Wuxi People's Hospital Affiliated to Nanjing Medical University, No. 299, Qingyang Road, Wuxi, 214023, China.
Insights
Dilated cardiomyopathy (DCM) involves heart muscle dysfunction. This study identified COL1A2, COL3A1, and POSTN as key immune-related genes potentially driving DCM, offering new targets for research.
Area of Science:
- Cardiovascular Biology
- Molecular Medicine
- Immunology
Background:
- Dilated cardiomyopathy (DCM) presents with left ventricular dilatation and impaired systolic function, leading to high mortality.
- The precise molecular mechanisms underlying DCM pathogenesis remain largely unknown.
Purpose of the Study:
- To identify differentially expressed genes (DEGs) in DCM.
- To explore potential immune-related mechanisms and key genes involved in DCM development.
Main Methods:
- Differential gene expression analysis using public datasets (GSE3585, GSE84796).
- Bioinformatic approaches including MCODE, degree, MNC, and MCC for hub gene identification.
- Immune cell infiltration analysis and validation using an independent dataset (GSE57338) and CTD database.
Main Results:
- Identified 80 DEGs in DCM, enriched in immune-related pathways.
- Immune infiltration analysis suggested abnormal immune responses in DCM.
- COL1A2, COL3A1, and POSTN were identified as upregulated key immune-related genes in DCM.
Conclusions:
- COL1A2, COL3A1, and POSTN are suggested as critical immune-related genes in DCM pathogenesis.
- These genes represent potential diagnostic and therapeutic targets for dilated cardiomyopathy.
- Further research is warranted to elucidate the specific roles of these genes in DCM.
Abstract:
Dilated cardiomyopathy (DCM) is characterized by the left ventricular dilatation and impaired myocardial systolic dysfunction with high mortality and morbidity. However, the underlying mechanisms remain elusive. We first identified the differentially expressed genes (DEGs) between the DCM and control group using two expression profiles from GSE3585 and GSE84796. Enrichment analysis was conducted to explore the potential mechanisms underlying DCM. A total of four algorithms, including key module of MCODE, degree, maximum neighborhood component (MNC), and maximal clique centrality (MCC), were used to identify the hub genes within Cytoscape. The correlation between hub genes and infiltrated immune cells was evaluated to determine potential immune-related genes. The expression analysis and diagnosis value analysis of potential immune-related genes were performed. Finally, the expression analysis with GSE57338 and relationship analysis with the comparative toxicogenomics database (CTD) were performed to identify the key immune-related genes in DCM. A total of 80 DEGs were screened for DCM. Enrichment analysis revealed that DEGs were involved in the immune-related pathological process. Immune infiltration analysis indicated a potentially abnormal immune response in DCM. Four up-regulated genes (COL1A2, COL3A1, CD53, and POSTN) were identified as potential immune-related genes. Finally, three genes (COL1A2, COL3A1, and POSTN) were determined as the key immune-related genes in DCM via expression analysis with a validation set (GSE57338) and relationship analysis with CTD. Our study suggested that the upregulated COL1A2, COL3A1, and POSTN might be the key immune-related genes for DCM. Further studies are needed to validate the underlying mechanisms.
Related Concept Videos
Cardiomyopathy II: Dilated Cardiomyopathy
Cardiomyopathy III: Hypertrophic Cardiomyopathy

