Role of PAX6, TRPA1, BCL11B, MCOLN2, CUX1, EMX1 in colorectal cancer and osteosarcoma

Medicine (Baltimore). 2024 Feb 2;103(5):e37056. doi: 10.1097/MD.0000000000037056.

Abstract

Colorectal cancer is a cancer that arises from the abnormal growth of cells in the colon or rectum. Osteosarcoma (OS) is a common primary bone tumor with high degree of malignancy. The configuration files for colorectal cancer dataset GSE142279 and OS datasets GSE197158 and GSE206448 were downloaded from Gene Expression Omnibus database using the platforms GPL20795, GPL20301, and GPL24676. Differentially expressed genes (DEGs) were screened and weighted gene co-expression network analysis (WGCNA) was performed. Construction and analysis of protein-protein interactions (PPI) network. Functional enrichment analysis, gene set enrichment analysis (GSEA) were performed. A heat map of gene expression was drawn. The Comparative Toxicogenomics Database (CTD) was used to find the diseases most associated with the core genes. TargetScan was used to screen miRNAs regulating DEGs. According to the Gene Ontology (GO) analysis, DEGs are mainly enriched in acetylcholine binding receptor activity involved in Wnt signaling pathway, cell polarity pathway, PI3K-Akt signaling pathway, receptor regulator activity, cytokine-cytokine receptor interaction, transcriptional misregulation in cancer, and inflammation-mediated regulation of tryptophan transport. In the Metascape enrichment analysis, GO enrichment items related to the regulation of Wnt signaling pathway, regulation of muscle system process, and regulation of actin filament-based movement. Eight core genes (CUX1, NES, BCL11B, PAX6, EMX1, MCOLN2, TRPA1, TRPC4) were identified. CTD showed that 4 genes (CUX1, EMX1, TRPA1, BCL11B) were associated with colorectal neoplasms, colorectal tumors, colonic diseases, multiple myeloma, OS, and inflammation. PAX6, TRPA1, BCL11B, MCOLN2, CUX1, and EMX1 are highly expressed in colorectal cancer and OS, and the higher the expression level, the worse the prognosis.

MeSH terms

  • Bone Neoplasms* / pathology
  • Colorectal Neoplasms* / genetics
  • Computational Biology
  • Gene Expression Profiling
  • Gene Expression Regulation, Neoplastic
  • Gene Regulatory Networks
  • Homeodomain Proteins*
  • Humans
  • Inflammation / genetics
  • Osteosarcoma* / pathology
  • PAX6 Transcription Factor*
  • Phosphatidylinositol 3-Kinases / metabolism
  • Repressor Proteins / metabolism
  • TRPA1 Cation Channel / genetics
  • Transcription Factors / genetics
  • Tumor Suppressor Proteins / genetics

Substances

  • Phosphatidylinositol 3-Kinases
  • Transcription Factors
  • Tumor Suppressor Proteins
  • TRPA1 protein, human
  • TRPA1 Cation Channel
  • BCL11B protein, human
  • Repressor Proteins
  • CUX1 protein, human
  • PAX6 protein, human
  • PAX6 Transcription Factor
  • Homeodomain Proteins