Identification and Potential Value of Candidate Genes in Patients with Sinonasal inverted papilloma

Abstract

Abstract Background: This study aimed to explore candidate genes involved in the pathogenesis of sinonasal inverted papilloma (SNIP) using bioinformatic analysis and experimental verification. Methods: For this, gene expression profiles (GSE193016) were downloaded from the Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) were identified, with Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) being used to analyze the functions and pathways of DEGs. Co-expression networks were established using single-sample gene set enrichment analysis (GSEA). Furthermore, Search Tool for the Retrieval of Interacting Genes (STRING), Cytoscape, Molecular Complex Detection (MCODE), and Cytohubba were used to construct protein–protein interaction (PPI) networks, screen hub DEGs, and identify hub genes, with a miRNA-TF-hub gene regulatory network also being constructed. Finally, expression levels of identified hub genes were verified using RT-qPCR. Results: As a result, 985 DEGs were identified, including 343 upregulated and 642 downregulated genes. Functional enrichment analyses showed that upregulated DEGs were significantly enriched in epidermal development, cornification, keratinocyte differentiation, epidermal cell differentiation, and skin development. Meanwhile, downregulated DEGs were significantly enriched in muscle contraction, extracellular structure organization, muscle system process, extracellular matrix organization, and regulation of membrane potential. The top eight hub genes were MAD2L1, CDC20, CCNB2, CCNB1, AURKB, NDC80, KIF11, and DLGAP5. During the validation stage, the expression of MAD2L1 was significantly higher in patients with SNIP than in those with normal nasal mucosa. Conclusions: Overall, this study identified key genes associated with SNIP and their biological functions. Furthermore, a variety of predicted genes involved in the cell cycle were found to be connected to SNIP pathogenesis and malignant transformation. MAD2L1may play an important role in SNIP pathogenesis, providing novel insights into the occurrence and development of SNIP.