Screening differentially expressed genes between endometriosis and ovarian cancer to find new biomarkers for endometriosis

Ann Med. 2021 Dec;53(1):1377-1389. doi: 10.1080/07853890.2021.1966087.

Abstract

Aim: Endometriosis is one of the most common reproductive system diseases, but the mechanisms of disease progression are still unclear. Due to its high recurrence rate, searching for potential therapeutic biomarkers involved in the pathogenesis of endometriosis is an urgent issue.

Methods: Due to the similarities between endometriosis and ovarian cancer, four endometriosis datasets and one ovarian cancer dataset were downloaded from Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) were identified, followed by gene ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway and protein-protein interaction (PPI) analyses. Then, we validated gene expression and performed survival analysis with ovarian serous cystadenocarcinoma (OV) datasets in TCGA/GTEx database, and searched for potential drugs in the Drug-Gene Interaction Database. Finally, we explored the miRNAs of key genes to find biomarkers associated with the recurrence of endometriosis.

Results: In total, 104 DEGs were identified in the endometriosis datasets, and the main enriched GO functions included cell adhesion, extracellular exosome and actin binding. Fifty DEGs were identified between endometriosis and ovarian cancer datasets including 11 consistently regulated genes, and nine DEGs with significant expression in TCGA/GTEx. Only IGHM had both significant expression and an association with survival, three module DEGs and two significantly expressed DEGs had drug associations, and 10 DEGs had druggability.

Conclusions: ITGA7, ITGBL1 and SORBS1 may help us understand the invasive nature of endometriosis, and IGHM might be related to recurrence; moreover, these genes all may be potential therapeutic targets.KEY MESSAGEThis manuscript used a bioinformatics approach to find target genes for the treatment of endometriosis.This manuscript used a new approach to find target genes by drawing on common characteristics between ovarian cancer and endometriosis.We screened relevant therapeutic agents for target genes in the drug database, and performed histological validation of target genes with both expression and survival analysis difference in cancer databases.

Keywords: Differentially expressed genes; biomarkers; endometriosis; ovarian cancer.

MeSH terms

  • Antigens, CD / genetics*
  • Biomarkers, Tumor / genetics
  • Biomarkers, Tumor / metabolism
  • Early Detection of Cancer
  • Endometriosis / genetics*
  • Endometriosis / pathology
  • Female
  • Gene Expression Profiling / methods
  • Gene Expression Regulation, Neoplastic / genetics
  • Heavy Chain Disease / genetics*
  • Humans
  • Immunoglobulin mu-Chains / genetics*
  • Integrin alpha Chains / genetics*
  • Integrin beta1 / genetics*
  • Microfilament Proteins / genetics*
  • Ovarian Neoplasms / genetics*
  • Ovarian Neoplasms / pathology

Substances

  • Antigens, CD
  • Biomarkers, Tumor
  • IGHM protein, human
  • ITGBL1 protein, human
  • Immunoglobulin mu-Chains
  • Integrin alpha Chains
  • Integrin beta1
  • Microfilament Proteins
  • SORBS1 protein, human
  • integrin alpha7