Bioinformatics analysis of differentially expressed genes and pathways in the development of Juvenile-Onset Recurrent Respiratory Papillomatosis

Background. Juvenile-Onset Recurrent Respiratory Papillomatosis (JORRP) is the most common form of benign respiratory tract tumor in children that characterized by high recurrence and aggressiveness. The purpose of this study was to screen the key genes and pathways of JORRP by biological information analysis and to investigate the molecular mechanisms of JORRP progression. Methods. RNA sequencing (RNA-seq) was used to identify differentially expressed genes (DEGs) in three JORRP tissues and two adjacent non-tumor tissues, which were first analyzed for gene ontology (GO) and Kyoto Gene and Genome Encyclopedia (KEGG) pathway enrichment.The protein-protein interaction (PPI) network of these DEGs was next constructed with STRING and visualized with Cytoscape software. The central genes were subsequently screened using CytoHubba, a plug-in in Cytoscape software, and finally evaluated using gene function enrichment analysis. Results. A total of 1795 DEGs were screened, including 876 up-regulated genes and 919 down-regulated genes. The up-regulated DEGs were mainly enriched in cornification, cell cycle, steroid biosynthesis and HIF-1 signaling pathway, and the down-regulated DEGs were associated with cilium movement, cell projection organization, metabolism of xenobiotics by cytochrome P450 and chemical carcinogenesis. VEGFA, CDH1, CDK1, IL1B, KIF11, HIF1A, ASPM, AURKA, CENPE, MKI67 were identified as hub genes from the PPI network, and these genes were mainly associated with spindle organization, cancers-related pathways, Th17 cell differentiation and HIF-1 signaling pathway. Conclusion. The key genes and pathways screened in this study may play a pivotal role in the development of JORRP and provide a scientific basis for future related studies.