Bioinformatical Enrichment Analysis Reveals Key Differentially Expressed Genes in Endometriosis Pathogenesis

Endometriosis is a gynecological disease characterized by the presence of uterine (eutopic) endometrial glands and tissues outside the intra-uterine locations, in ectopic regions such as the pelvic peritoneum, fallopian tubes, or ovaries. Approximately 5–10% of reproductive and 20–50% of infertile women are affected by endometriosis. The pathogenesis of endometriosis involves various factors, including hormonal, environmental, genetic, and immune system components, directly or indirectly altering estrogen levels and impacting women's reproductive health. This study aimed to identify novel and potential biomarkers for endometriosis using mRNA seq analysis. Differentially expressed genes (DEGs) were identified from raw gene expression profiles, and their functional analysis was subsequently conducted. A total of 552 DEGs (312 upregulated and 240 downregulated) were identified in samples from women with endometriosis compared to control subjects. Major DEGs, such as C3, PSAP, APP, GNG12, were identified as hub nodes and found to be involved in various functions, including epithelial cell differentiation and development, proteolysis, gland development, muscle fiber development, and response to hormone stimulus. These DEGs may play a direct or indirect role in the pathogenesis of endometriosis, serving as potential biomarkers for ectopic endometrium. While this study provides a preliminary insight into the mechanism of endometriosis, further detailed studies are necessary to fully understand its path of action.