Integrated Analysis of Immunocyte Infiltration and Differential Gene Expression in Hypertrophic Obstructive Cardiomyopathy

Objective : Hypertrophic obstructive cardiomyopathy (HOCM) is one of the main reasons for sudden cardiac death (SCD) of young people. Researches have revealed that immune-related genes are closely relevant with HOCM. Therefore, it is important to explore the key immune regulatory mechanisms and biomarkers of HOCM. Methods: We used many bioinformatics methods, including linear models for microarray analysis (LIMMA), protein-protein interaction (PPI) network, Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes pathway (KEGG), and CIBERSORT to assess the key pathway and hub genes involved in HOCM. Furthermore, expression levels of hub genes were validated in human tissue. Results: Our results showed that the degree of infiltration of five immune cells were linked to HOCM, including monocytes, macrophages M2, NK cell resting, B cells native, and T cells regulatory (Tregs). A total of 7 hub genes (CCL2, CXCL8, FOS, MAP2K1, NFKBIA, STAT3, and TNFRSF1A) were identified and validated by qt-PCR. The core genes including CCL2, MAP2K1, NFKBIA, STAT3, and TNFRSF1A are closely related to monocytes infiltration in HOCM. Conclusion: Taken together, our research will provide useful information to explore the immune mechanisms underlying HOCM and the potential targets for therapy. The candidate genes CCL2, MAP2K1, NFKBIA, STAT3, and TNFRSF1A were involved in the regulation of monocytes tissue infiltration, which is closely related to the HOCM.