Related Experiment Video
Updated: Oct 13, 2025
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Identification and Verification of Feature Immune-Related Genes in Patients With Hypertrophic Cardiomyopathy Based on
Xifeng Zheng1, Guangyan Liu1, Ruina Huang2
1Department of Geriatrics, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.
Insights
This study identifies four key immune-related genes (IRGs) as novel biomarkers for diagnosing hypertrophic cardiomyopathy (HCM). These IRGs offer new insights into the immune mechanisms driving HCM development.
Area of Science:
- Cardiovascular Biology
- Immunology
- Genetics
Background:
- Hypertrophic cardiomyopathy (HCM) is a complex cardiac disease with incompletely understood molecular underpinnings.
- Immune system dysregulation is increasingly implicated in the pathogenesis of cardiovascular diseases, including HCM.
Purpose of the Study:
- To identify and validate immune-related genes (IRGs) as diagnostic biomarkers for hypertrophic cardiomyopathy (HCM).
- To explore the role of immune mechanisms in HCM pathogenesis.
Main Methods:
- Differential gene expression analysis of cardiac tissue from HCM patients and controls using the GSE160997 dataset.
- Intersection of differentially expressed genes (DEGs) with immune-related gene datasets to identify key IRGs.
- Construction of protein-protein interaction networks and application of machine learning algorithms (LASSO, Random Forest) for biomarker selection.
- Validation of identified biomarkers using an independent dataset (GSE36961).
Main Results:
- 1079 differentially expressed genes (DEGs) were identified in HCM cardiac tissue.
- 121 immune-related genes (IRGs) were found to be differentially expressed.
- Four feature IRGs were selected and validated as potential diagnostic biomarkers for HCM with high discrimination ability.
- A diagnostic model based on these four IRGs achieved a C-index of 0.925.
Conclusions:
- Four feature IRGs serve as robust biomarkers for HCM diagnosis.
- These findings highlight the critical role of immune-related pathways in HCM.
- The study provides a novel molecular perspective on HCM pathogenesis and diagnosis.
Abstract:
Objective: To identify feature immune-related genes (IRGs) in patients with hypertrophic cardiomyopathy (HCM) and verify their ability to diagnose HCM. Methods: The GSE160997 dataset on cardiac tissue from 18 HCM patients and 5 controls was downloaded from the Gene Expression Omnibus database. A false discovery rate <0.05 and |log2 fold change| >1 were the filters applied to identify the differentially expressed genes (DEGs). The differentially expressed IRGs were the intersection results between the DEGs and an IRG dataset from the IMMPORT database. The protein-protein interaction network of differentially expressed IRGs was constructed, and the top 20 hub genes with the most adjacent nodes in the network were selected. The least absolute shrinkage and selection operator regression algorithm and a random forest algorithm were used to identify the feature IRGs as biomarkers that were then verified against GSE36961. Results: A total of 1079 DEGs were identified in GSE160997. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses indicated that immune-related mechanisms play an important role in the pathogenesis of HCM. A total of 121 differentially expressed IRGs were identified, and 5 feature IRGs were selected, 4 of which were confirmed as potential biomarkers of HCM by external verification with excellent discrimination ability. A diagnosis model of HCM based on the four feature IRGs was developed and visualized as a nomogram with a C-index of 0.925 (95% confidence interval 0.869-0.981). Conclusion: Our study identified four feature IRGs as biomarkers for the diagnosis of HCM, offering an innovative perspective of the underlying immune-related pathological molecular mechanisms.
