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.
Highlights
Hypertrophic cardiomyopathy (HCM) is a hereditary heart disease that is defined as unexplained, isolated, progressive myocardial hypertrophy, usually accompanied by heart failure or arrhythmia
A total of 121 differentially expressed immune-related gene (IRG) 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
It became obvious that inflammation and immune-related signaling pathways and biological regulatory functions played a dominant role in the enrichment results of the differentially expressed genes (DEGs), which prompted us to further explore the IRGs among the DEGs
Summary
Hypertrophic cardiomyopathy (HCM) is a hereditary heart disease that is defined as unexplained, isolated, progressive myocardial hypertrophy, usually accompanied by heart failure or arrhythmia. It is considered the primary underlying condition in sudden cardiac death in young adults and athletes. During the past two decades, the continuous improvement of gene sequencing technology has enabled the diagnosis of HCM among populations with a family history and in asymptomatic patients through genetic testing to avoid sudden death. This has become a class I recommendation for supplementary testing according to the European Society of Cardiology and American Heart Association/American College of Cardiology guidelines [3, 4]
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