Abstract
Background Hypertrophic cardiomyopathy (HCM) is a group of heterogeneous diseases that affects the myocardium. It is also a common familial disease. The symptoms are not common and easy to find. Objective In this paper, we aim to explore and analyze the dysfunctional gene network related to hypertrophic cardiomyopathy, and the key target genes with diagnostic and therapeutic significance for HCM were screened. Methods The gene expression profiles of 37 samples (GSE130036) were downloaded from the GEO database. Differential analysis was used to identify the related dysregulated genes in patients with HCM. Enrichment analysis identified the biological function and signaling pathway of these differentially expressed genes. Then, PPI network was built and verified in the GSE36961 dataset. Finally, the gene of single-nucleotide variants (SNVs) in HCM samples was screened by means of maftools. Results In this study, 920 differentially expressed genes were obtained, and these genes were mainly related to metabolism-related signaling pathways. 187 interacting genes were identified by PPI network analysis, and the expression trends of C1QB, F13A1, CD163, FCN3, PLA2G2A, and CHRDL2 were verified by another dataset and quantitative real-time polymerase chain reaction. ROC curve analysis showed that they had certain clinical diagnostic ability, and they were the potential key dysfunctional genes of HCM. In addition, we found that PRMT5 mutation was the most frequent in HCM samples, which may affect the pathogenesis of HCM. Conclusion Therefore, the key genes and enrichment results identified by our analysis may provide a reference for the occurrence and development mechanism of HCM. In addition, mutations in PRMT5 may be a useful therapeutic and diagnostic target for HCM. Our results also provide an independent quantitative assessment of functional limitations in patients with unknown history.
Highlights
Hypertrophic cardiomyopathy (HCM) is a common inherited cardiovascular disease, which exists in one patient in every 500 people [1, 2]
From the results of biological process (BP) enrichment, we found that the maladjusted genes are mainly involved in the biological process related to epidermis development (Figures 2(a) and 2(b))
We found that the signal pathways involved in the maladjusted genes mainly include arachidonic acid metabolism, aldosterone synthesis and secretion, and drug metabolism (Figures 2(g) and 2(h)). e results showed that the maladjusted genes were mainly related to the metabolism-related signaling pathway in the course of HCM
Summary
Hypertrophic cardiomyopathy (HCM) is a common inherited cardiovascular disease, which exists in one patient in every 500 people [1, 2]. Patients with hypertrophic cardiomyopathy were relieved by various physical exercise methods, which had made significant contributions to disease management and were carried out without increasing risk [7]. Hypertrophic cardiomyopathy (HCM) is a group of heterogeneous diseases that affects the myocardium. We aim to explore and analyze the dysfunctional gene network related to hypertrophic cardiomyopathy, and the key target genes with diagnostic and therapeutic significance for HCM were screened. Enrichment analysis identified the biological function and signaling pathway of these differentially expressed genes. 187 interacting genes were identified by PPI network analysis, and the expression trends of C1QB, F13A1, CD163, FCN3, PLA2G2A, and CHRDL2 were verified by another dataset and quantitative real-time polymerase chain reaction. Our results provide an independent quantitative assessment of functional limitations in patients with unknown history
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
