Endometriosis Knowledgebase: a gene-based resource on endometriosis

Abstract

Endometriosis is a complex, benign, estrogen-dependent gynecological disorder with an incidence of ~10% women in reproductive age. The implantation and growth of endometrial cells outside the uterus leads to the development of endometriosis. Endometriosis is also associated with comorbid conditions like cardiovascular and autoimmune diseases. The absence of non-invasive diagnostic markers, delayed diagnosis, high risk of recurrence of the disease on surgical removal of the tissue and absence of a definitive cure for endometriosis makes it imperative to gain insights into the complex etiology of endometriosis. A plethora of genes identified from blood and endometrial biopsies, involved in different pathways like steroid metabolism, angiogenesis, inflammation, etc. have been associated with endometriosis. However, the exact mechanism and genetic etiology of endometriosis still remain unclear. The polygenic nature of the disease, incongruent phenotypic manifestations in different ethnic populations and information scattered in literature makes it difficult to delineate the sub-network of genes that will aid in disease diagnosis and effective treatment. Endometriosis Knowledgebase is a manually curated database with information on genes associated with endometriosis. It holds information on 831 genes, their associated polymorphisms, gene ontologys, pathways and diseases. Genes in the database are enriched in pathways important for cell signaling, immune regulation and reproduction. A genetic overlap is seen between endometriosis and cancers, endocrine/reproductive, nervous system, immune and metabolic diseases. Network analysis of genes in the Endometriosis Knowledgebase helped predict 13 new candidate genes for endometriosis. These genes were found to be enriched in biological processes associated with endometriosis. The Endometriosis Knowledgebase and incorporated tools for gene and sequence-based analysis will benefit both researchers and clinicians working in the realm of reproductive biology.

Endometriosis—A Multifaceted Problem of a Modern Woman

“…In the groups of 35-45 years and over 45 years of age, respectively, the data were as follows: ovaries (74% and 57.14%), peritoneum (37.33% and 14.29%) and fallopian tubes (31.33% and 14.29%). The most persistent complaint reported by the respondents in all age groups was pain during menstruation (group 18-25 years old: 80.43%, group 25 ). Most respondents expressed their willingness to obtain assistance in the search for the optimal method of treatment (66.67%) and therapy financing (63.89%).…”

“…The adverse effects experienced by patients with endometriosis significantly contribute to problems with productivity, relationship difficulties, and social dissatisfaction. Endometriosis is therefore a pathology that can significantly affect the quality of women's life in multiple dimensions [1,24,25]. Modern treatment of endometriosis should be personalised using a patient-centred, interdisciplinary approach.…”

Malignant Transformation and Associated Biomarkers of Ovarian Endometriosis: A Narrative Review

“…The gene network of endometriosis includes genes of hormones and their receptors, tumor suppressors, the detoxification systems, cytokines, and their receptors, embryonic development and cell proliferation, and others, involved in more than 30 metabolic ways ( Fig. 1) [91]. Epigenetic factors (e.g., level of DNA methylation, modification of histone proteins, microRNA) are important in the development of endometriosis [92].…”

Association Between Endometriosis and Subsequent Risk of Sjögren’s Syndrome: A Nationwide Population-Based Cohort Study

“…It has been indicated that autoimmune disorders could occur more often among those with endometriosis. However, endometriosis’s actual mechanism and genetic etiology are unknown ( 9 ).…”