Abstract
PurposeTo synthesise data from genome-wide studies reporting molecular signature of eutopic endometrium through the phases of the menstrual cycle in endometriosis.MethodsExtraction of data from publications reporting genetic signatures characterising endometrium associated with endometriosis. The nomenclature of extracted differentially expressed transcripts and proteins was adopted according to the HUGO Gene Nomenclature Committee (HGNC). Loci were further sorted according to the different phases of the menstrual cycle, i.e. menstrual (M), proliferative (P), secretory (S), early-secretory (ES), mid-secretory (MS), late-secretory (LS), and not specified (N/S) if the endometrial dating was not available. Enrichment analysis was performed using the DAVID bioinformatics tool.ResultsAltered molecular changes were reported by 21 studies, including 13 performed at the transcriptomic, 6 at proteomic, and 2 at epigenomic level. Extracted data resulted in a catalogue of total 670 genetic causes with available 591 official gene symbols, i.e. M = 3, P = 188, S = 81, ES = 82, MS = 173, LS = 36, and N/S = 28. Enriched pathways included oestrogen signalling pathway, extracellular matrix organization, and endothelial cell chemotaxis. Our study revealed that knowledge of endometrium biology in endometriosis is fragmented due to heterogeneity of published data. However, 15 genes reported as dysregulated by at least two studies within the same phase and 33 significantly enriched GO-BP terms/KEGG pathways associated with different phases of the menstrual cycle were identified.ConclusionsA multi-omics insight into molecular patterns underlying endometriosis could contribute towards identification of endometrial pathological mechanisms that impact fertility capacities of women with endometriosis.
Highlights
Endometriosis is a common disease where tissue similar to normal endometrium grows outside of the uterus
The aim of this study was to (1) screen for published genome-wide studies reporting genetic causes distinguishing eutopic endometrium between women with and without endometriosis, (2) develop a catalogue of genetic causes associated with altered molecular patterns in eutopic endometrium in women with endometriosis, (3) modify the gene nomenclature of extracted loci according to the HUGO Gene Nomenclature Committee (HGNC) system, (4) sort genes according to the phases of the menstrual cycle, and (5) perform gene set enrichment analysis (GSEA) associated with each phase of the menstrual cycle
We developed a catalogue of genes reported to have altered molecular patterns in eutopic endometrium in endometriosis
Summary
Endometriosis is a common disease where tissue similar to normal endometrium (ectopic endometrium) grows outside of the uterus. Endometriosis affects approximately 10% of women in their reproductive age. The condition is more common in women suffering with chronic pelvic pain and infertility. The nature of disease is often progressive, with gradually worsening pain which can lead to absence from social and work obligations [5]. This can result in significant burden to healthcare systems [6]. Non-invasive diagnostic testing could provide earlier diagnosis and improve disease management for these women [7]. Measurable biologic markers (biomarkers) from eutopic endometrium (an innermost lining layer of the uterus) and body fluids are currently the most promising non-invasive diagnostic approaches [8]
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