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Identification of Shared Hub Genes between Endometriosis and Ovarian Clear Cell Carcinoma Using Integrative
Elnaz Zaefari1, Zahra Noormohammadi2, Ashraf Moeini3,4,5
1Department of Biology, SR.C., Islamic Azad University, Tehran, Iran.
Background:
Endometriosis is a known risk factor for ovarian clear cell carcinoma (OCCC). This study aimed to identify potential hub genes in fertile and infertile women with endometriosis and explore key biological pathways involved in disease progression.
Materials And Methods:
In this bioinformatics study, microarray datasets from patients with endometriosis and OCCC were retrieved from Gene Expression Omnibus (GEO). Differentially expressed genes (DEGs) were identified in the fertile and infertile groups. Gene modules were constructed, and a protein-protein interaction (PPI) network was built using the STRING database. Hub genes were identified using nine topological algorithms. Functional enrichment analyses, including Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses, were performed to explore associated biological processes. Survival analyses were conducted to evaluate the prognostic significance of the hub genes. Batch effect correction was applied. However, due to the small sample size and the incomplete availability of clinical confounders (age, BMI, AMH/AFC, and infertility factors), the findings should be interpreted as preliminary.
Results:
DEG analysis identified 1,390 genes in fertile women with endometriosis, 4,223 genes in infertile women with endometriosis, and 2,762 genes in patients with OCCC. Two sets of hub genes were identified: 17 genes shared between infertile women with endometriosis and OCCC (IGF1, FGF1, FGFR3, EPHX2, INA, BIRC5, PPIG, KIF20A, CYP2C9, NES, TLR4, RHO, SOX2, LY96, FCGR2A, S100B, and S100A1), and 12 genes shared between fertile women with endometriosis and OCCC (SLC17A8, HMGA2, CCND2, MSRB3, NPY, SFRP1, MDM2, CYP19A1, NCOA3, CD86, CDC25A, and CXCL13). Enrichment analysis highlighted pathways related to cell cycle regulation, apoptosis, and the inflammatory response.
Conclusion:
NCOA3, BIRC5, and EPHX2 may be potential candidate biomarkers associated with endometriosis and OCCC. These findings may suggest a potential association between the identified hub genes and the molecular features of these diseases. Further studies are needed to validate these findings and clarify the potential biological and diagnostic relevance of these genes.