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Genome-wide DNA methylation profiling in ectopic and eutopic of endometrial tissues

Barjaste, N ; Sharif University of Technology | 2019

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  1. Type of Document: Article
  2. DOI: 10.1007/s10815-019-01508-8
  3. Publisher: Springer New York LLC , 2019
  4. Abstract:
  5. Purpose: Endometriosis is a gynecological disease that causes the uterine lining to appear in other organs outside the uterus. As DNA methylation has an important role in this disorder, its profiling can reveal new information to improve the diagnosis and treatment of endometriosis patients. Methods: We conducted a genome-wide methylation profiling of ectopic and eutopic endometrial tissues from women with and without endometriosis using Infinium Human Methylation 450K BeadChip arrays. DNA methylation samples were collected from nine ectopic and nine eutopic endometrial tissues of endometriosis and six endometrial tissues of healthy controls. Results: Correlation heatmaps and the principal component analysis divided the samples into two clusters, one consisting of all ectopic samples and the other consisting of both eutopic and control samples unexpectedly without segregation between them. The assay identified a group of methylated genes that were overrepresented in biological processes, including abnormality in signaling, development, and adhesion of cells. Pathway analysis revealed disruption in HTLV infection pathways, PI3K-Akt, oxytocin, and relaxin signaling. Moreover, we found eutopic lesions are strongly associated with autoimmune disease. Conclusions: Our results confirmed the role of DNA methylation alternations in endometriosis development and pathogenesis. Our finding suggests aberrant DNA methylation can activate several signaling pathways including PI3k-AKT signaling, relaxin, and oxytocin which are associated with the pathogenesis of endometriosis. © 2019, Springer Science+Business Media, LLC, part of Springer Nature
  6. Keywords:
  7. Differentially methylated regions ; Endometriosis ; Epigenetics ; Signaling pathways ; Genomic DNA ; Oxytocin ; Phosphatidylinositol 4,5 bisphosphate 3 kinase ; Protein kinase B ; Relaxin ; Article ; Autoimmune disease ; Cell adhesion ; Clinical article ; DNA methylation ; Ectopic tissue ; Endometrium biopsy ; Genome-wide association study ; Human ; Human T cell leukemia virus infection ; Human tissue ; pathogenesis ; Pi3K/Akt signaling ; Principal component analysis ; Priority journal ; Case control study ; Genetics ; Metabolism ; Pathology ; Adult ; Case-Control Studies ; Endometriosis ; Endometrium ; Female ; Gene Expression Regulation ; Humans ; Signal Transduction ; Young Adult
  8. Source: Journal of Assisted Reproduction and Genetics ; Volume 36, Issue 8 , 2019 , Pages 1743-1752 ; 10580468 (ISSN)
  9. URL: https://link.springer.com/article/10.1007/s10815-019-01508-8