Bioinformatical enrichment analysis of genes involved in the pathway of endometriosis disease

Abstract

Endometriosis, is a gynecological disease, where uterine (eutopic) endometrial glands and tissues are present outside the intra-uterine locations, ectopic regions (pelvic peritoneum, fallopian tubes or ovaries). About 5-10% reproductive and 20-50% infertile women have endometriosis. Several factors like hormonal, environmental, genetic and immune system are involved in the pathogenesis of endometriosis both directly or indirectly altering the estrogen level and thus affecting the reproductive health of women. Current study was done with an aim to identify novel and potential biomarker for endometriosis using mRNA seq analysis. From raw gene expression profiles differentially expressed genes (DEGs) were identified and further their functional analysis was conducted. A total of 552 (312 up and 240 downregulated) DEGs were identified in samples from endometriosis suffering women when compared with control subjects. Major DEGs forming hubnodes like C3, PSAP, APP, GNG12 were found to be involved in various functions such as, epithelia cell differentiation and development, proteolysis, gland development, muscle fiber development, response to hormone stimulus. The identified DEGs can be directly or indirectly involved in the pathway of pathogenesis of endometriosis and can act as a potential biomarker for ectopic endometrium. Current study will provide a preliminary insight into the mechanism of endometriosis disease; however, it will require further detailed studies for its complete path of action.