Unveiling Immune Infiltration Characterizing Genes in Hypertrophic Cardiomyopathy Through Transcriptomics and Bioinformatics

Jianmin Gong,1,2,* Bo Shi,1,3,* Ping Yang,1 Adeel Khan,4 Tao Xiong,2 Zhiyang Li1 1Department of Clinical Laboratory, Nanjing Drum Tower Hospital, Nanjing Drum Tower Hospital Clinical College of Nanjing Medical University, Nanjing, 210000, People’s Republic of China; 2College of Life Science, Yangtze University, Jingzhou, 434025, People’s Republic of China; 3Department of Clinical Laboratory, Nanjing Jiangning Hospital of Chinese Medicine (CM), Nanjing, 211100, People’s Republic of China; 4Department of Biotechnology, University of Science and Technology Bannu, Bannu, 28100, Islamic Republic of Pakistan*These authors contributed equally to this workCorrespondence: Tao Xiong, College of Life Science, Yangtze University, Jingzhou, 434025, People’s Republic of China, Tel +8613872387410, Email xiongtao@yangtzeu.edu.cn Zhiyang Li, Department of Clinical Laboratory, Nanjing Drum Tower Hospital, Nanjing Drum Tower Hospital Clinical College of Nanjing Medical University, Nanjing, 210008, People’s Republic of China, Tel +8618951703765, Email lizhiyang@nju.edu.cnBackground: Hypertrophic cardiomyopathy (HCM) is a dominantly inherited disease associated with sudden immune cell associations that remain unclear. The aim of this study was to comprehensively screen candidate markers associated with HCM and immune cells and explore potential pathogenic pathways.Methods: First, download the GSE32453 dataset to identify differentially expressed genes (DEGs) and perform Gene Ontology and pathway enrichment analysis using DAVID and GSEA. Next, construct protein-protein interaction (PPI) networks using String and Cytoscape to identify hub genes. Afterward, use CIBERSORT to determine the proportion of immune cells attributed to key genes in HCM and conduct ROC analysis based on the external dataset GSE36961 to evaluate their diagnostic value. Finally, validate the expression of key genes in the hypertrophic cardiomyocyte model through qRT-PCR using data fr