Differential Gene Expression Profiling of Ectopic Endometrium Reveals Key Molecular Pathways in Endometriosis Pathogenesis
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Endometriosis is a chronic, estrogen-dependent inflammatory disorder characterized by ectopic endometrial-like tissue. We investigated gene expression changes in ectopic endometrium from 221 women with histologically confirmed endometriosis and compared them with eutopic endometrium from 27 fertile controls. Using quantitative real-time PCR, we analysed 35 candidate genes involved in epigenetic regulation, development (HOX genes), inflammation, angiogenesis and hormonal signalling. A total of 18 genes were upregulated and 17 downregulated in ectopic tissue (adjusted p < 0.05, Benjamini–Hochberg FDR). Upregulated genes included DNMT1, DNMT3A, VEGFA, TNF-α and MMP2, whereas HOXA10, PGR and ESR1 were among the downregulated genes. Gene ontology (GO) and protein–protein interaction (PPI) analyses (STRING, ShinyGO) revealed enrichment in DNA-methylation and inflammatory pathways. Clinical and biochemical measures (CA-125, CRP, pelvic pain) increased with rASRM stage. These results identify coordinated epigenetic and inflammatory alterations in ectopic endometrium, suggesting potential molecular targets for diagnosis and therapy.
