• Identification of key genes involved in Esophageal squamous cell carcinoma by bioinformatics analysis
  • Sedigheh Sadat Mortazavi,1 Zinat Shams ,2 Roghayeh Sheervalilou,3,*
    1. Division of Genetics, Department of Biology, Faculty of Sciences, Shahid Bahonar University of Kerman, Kerman, Iran.
    2. Department of Biological Science, Kharazmi University, Tehran, Iran
    3. Pharmacology Research Center, Zahedan University of Medical Sciences, Zahedan, Iran


  • Introduction: The commonest histological subtype of esophageal cancer, Esophageal squamous cell carcinoma (ESCC), is one of the deadliest human malignancies. Managing ESCC is still a challenge because of the late-stage diagnosis and metastasis. Also, despite recent advances in the therapy of ESCC, patients still develop therapy resistance and experience relapse. Therefore, this study aimed to improve the understanding of ESCC and investigate biomarkers for clinical management of its patients by comprehensive bioinformatics analysis.
  • Methods: In the present study, a microarray dataset containing gene expression data from ESCC patient samples was downloaded from the Gene Expression Omnibus (GEO) database. R software was applied to investigate differentially expressed genes in ESCC. Then, enrichment analyses were performed for the selected differentially expressed genes. Afterward, the protein-protein interaction (PPI) network was established using the Cytoscape software. Eventually, the top ten hub-genes were identified.
  • Results: There were 276 differentially expressed genes obtained from GSE161533 datasets. GO analysis results demonstrated that differentially expressed genes were mainly enriched in the extracellular matrix organization, collagen-containing extracellular matrix, and receptor ligand activity as the top terms of biological process (BP), cellular component (CC), and molecular function (MF), respectively. Moreover, the cytokine-cytokine receptor interaction was found as the significantly enriched pathway. Finally, ten genes, including MMP9, CXCL8, COL1A1, MMP3, POSTN, SPP1, MMP1, SERPINE1, COL1A2, and COL3A1, were identified as ten hub genes.
  • Conclusion: The findings of the present study suggest a list of genes applicable as novel diagnostic biomarkers and therapeutic targets for ESCC. Also, our results can support the application of public molecular data and computer-based approaches to develop more efficient strategies for the treatment of ESCC.
  • Keywords: Esophageal squamous cell carcinoma, biomarker, cancer