The importance of epigenome research in the diagnosis and treatment of endometriosis


  • Przemysław Krzysztof Wirstlein Department of Obstetrics, Gynecology and Gynecological Oncology, Division of Reproduction. Poznan University of Medical Sciences
  • Paweł P. Jagodziński Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poland
  • Małgorzata Szczepańska Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poland



endometriosis, gene expression, methylation


The causes of endometriosis remain unexplained. Studying the molecular mechanisms at the origin of the lesions leads to conclusions about the important role of the epigenome. This mini-review is a summary of the current state of knowledge about the processes of epigenetic control of gene expression involved in the pathogenesis of endometriosis.


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Giudice LC, Kao LC. Endometriosis. Lancet. 2004;364: 1789–1799.

Vercellini P, Fedele L, Aimi G, Pietropaolo G, Consonni D, Crosignani PG. Association between endometriosis stage, lesion type, patient characteristics and severity of pelvic pain symptoms: a multivariate analysis of over 1000 patients. Hum Reprod. 2007;22:266–271.

Scarselli G, Rizzello F, Cammilli F, Ginocchini L. Diagnosis and treatment of endometriosis. A review. Gynecol Endocrinol. 2009;25:734–740.

Sampson J. Peritoneal endometriosis due to menstrual dissemination of endometrial tissue into the peritoneal cavity. Am J Obstet Gynecol. 1927;14:422–469.

Augoulea A, Alexandrou A, Creatsa M, Vrachnis N, Lambrinoudaki I. Pathogenesis of endometriosis: the role of genetics, inflammation and oxidative stress. Arch Gynecol Obstet. 2012;286:99–103.

Verma M. The Role of Epigenomics in the Study of Cancer Biomarkers and in the Development of Diagnostic Tools. Adv Exp Med Biol. 2015;867:59–80.

Majnik AV, Lane RH. Epigenetics: where environment, society and genetics meet. Epigenomics. 2014;6:1–4.

Bird AP. CpG-rich islands and the function of DNA methylation. Nature. 1986;321:209–213.

Herman JG, Baylin SB. Gene silencing in cancer in association with promoter hypermethylation. N Engl J Med. 2003;349:2042–2054.

Borghese B, Barbaux S, Mondon F, Santulli P, Pierre G, Vinci G, et al. Genome-wide profiling of methylated promoters in endometriosis reveals a subtelomeric location of hypermethylation. Mol Endocrinol. 2010;24:1872–1885.

Dyson MT, Roqueiro D, Monsivais D, Ercan CM, Pavone ME, Brooks DC, et al. Genome-wide DNA methylation analysis predicts an epigenetic switch for GATA factor expression in endometriosis. PLoS Genet. 2014;10: e1004158.

Szczepańska M, Wirstlein P, Skrzypczak J, Jagodziński PP. Expression of HOXA11 in the mid-luteal endometrium from women with endometriosis-associated infertility. Reprod Biol Endocrinol. 2012;Jan 10;10:1

Koukoura O, Sifakis S, Spandidos DA. DNA methylation in endometriosis (Review). Mol Med Rep. 2016;13:2939–2948.

Tan M, Luo H, Lee S, Jin F, Yang JS, Montellier E, et al. Identification of 67 histone Identification of 67 histone marks and histone lysine crotonylation as a new type of histone modification. Cell 2011;146:1016–1028.

Wang Z, Zang C, Rosenfeld JA, Schones DE, Barski A, Cuddapah S, et al. Combinatorial patterns of histone acetylations and methylations in the human genome. Nat Genet. 2008;40:897–903.

Monteiro JB, Colón-Díaz M, García M, Gutierrez S, Colón M, Seto E, et al. Endometriosis is characterized by a distinct pattern of histone 3 and histone 4 lysine modifications. Reprod Sci. 2014:21:305–318.

Borghese B, Chiche JD, Vernerey D, Chenot C, Mir O, Bijaoui G, et al. Genetic polymorphisms of matrix metalloproteinase 12 and 13 genes are implicated in endometriosis progression. Hum Reprod. 2008:23:1207–1213.

Ribeiro AO, Schoof CR, Izzotti A, Pereira LV, Vasques LR. MicroRNAs: modulators of cell identity, and their applications in tissue engineering. Microrna. 2014;3:45–53.

Kim DH, Saetrom P, Snove O Jr, Rossi JJ. MicroRNA-directed transcriptional gene silencing in mammalian cells. Proc Natl Acad Sci USA. 2008;105:16230–16235.

Borghese B, Zondervan KT, Abrao MS, Chapron C, Vaiman D. Recent insights on the genetics and epigenetics of endometriosis. Clin Genet. 2017;91:254–264.

Teague EM, Print CG, HullML. The role ofmicroRNAs in endometriosis and associated reproductive conditions. Hum Reprod Update. 2010;16:142–165.

Braza-Boils A, Marí-Alexandre J, Gilabert J, Sánchez-Izquierdo D, Espana F, Estellés A, et al. MicroRNA expression profile in endometriosis: its relation to angiogenesis and fibrinolytic factors. Hum Reprod. 2014;29:978–988.

Izawa M, Taniguchi F, Uegaki T, Takai E, Iwabe T, Terakawa N, et al. Demethylation of a nonpromoter cytosine-phosphate-guanine island in the aromatase gene may cause the aberrant up-regulation in endometriotic tissues. Fertil Steril. 2011;95:33–39.

Wu Y, Guo SW. Inhibition of proliferation of endometrial stromal cells by trichostatin A, RU486, CDB-2914, N-acetylcysteine, and ICI 182780. Gynecol Obstet Invest. 2006;62:193–205.

Batkai S, Thum T. Analytical approaches in microRNA therapeutics. J Chromatogr B Analyt Technol Biomed Life Sci. 2014;964:146–152.




How to Cite

Wirstlein PK, Jagodziński PP, Szczepańska M. The importance of epigenome research in the diagnosis and treatment of endometriosis. JMS [Internet]. 2017 Dec. 30 [cited 2024 Jun. 16];86(4):325-7. Available from:



Thousand words about...
Received 2017-02-13
Accepted 2018-01-03
Published 2017-12-30