Abstract
Endometriosis is a chronic gynecological disease, affecting up to 10% of reproductive-age women. The exact cause of the disease is unknown; however, it is a heritable condition affected by multiple genetic, epigenetic, and environmental factors. Previous studies reported variations in the epigenetic patterns of numerous genes known to be involved in the aberrant modulation of cell cycle steroidogenesis, abnormal hormonal, immune and inflammatory status in endometriosis, apoptosis, adhesion, angiogenesis, proliferation, immune and inflammatory processes, response to hypoxia, steroidogenic pathway and hormone signaling are involved in the pathogenesis of endometriosis. Accumulating evidence suggest that various epigenetic aberrations may contribute to the pathogenesis of endometriosis. Among them, DNA methyltransferases, histone deacetylators, and non-coding microRNAs demonstrate differential expression within endometriotic lesions and in the endometrium of patients with endometriosis. It has been indicated that the identification of epigenetic differences within the DNA or histone proteins may contribute to the discovery of a useful prognostic biomarker, which could aid in the future earlier detection, timely diagnosis, and initiation of a new approach to the treatment of endometriosis, as well as inform us about the effectiveness of treatment and the stage of the disease. As the etiology of endometriosis is highly complex and still far from being fully elucidated, the presented review focuses on different approaches to identify the genetic and epigenetic links of endometriosis and its pathogenesis.
Highlights
Endometriosis, one of most common benign gynecologic disorders, is a chronic, inflammatory and estrogen-dependent disease, involving proliferation of endometrial and stromal tissue outside the uterine cavity [1]
GREB1 is an essential component of the estrogen receptor transcription complex, and despite the fact that the impact of the individual risk single-nucleotide polymorphisms (SNPs) is small, the research results suggest that risk variants acting on several genes in the same pathway cause an increase in sensitivity to estrogen, increasing the risk of development of endometriosis [88]
In addition to familial predisposition and genetic causes of endometriosis, multiple theories have been postulated, including epigenetic influences. Conspicuous progress in this area has been achieved, mainly due to the identification of new candidate genes and numerous SNPs closely associated with endometriosis
Summary
Endometriosis, one of most common benign gynecologic disorders, is a chronic, inflammatory and estrogen-dependent disease, involving proliferation of endometrial and stromal tissue outside the uterine cavity [1]. A marked progress in this area has been achieved, mainly as a result of identification of new candidate genes and numerous SNPs closely related to endometriosis [25], of genetic and epigenetic mechanisms of its regulation [26,27], and of endometrial stem cells [28], as well as transcriptome and miRNA analyses of the endometrium and endometriotic cells [20,29]. This fact can be used for diagnostic purposes to detect the disease and to forecast its course. We conducted a narrative review synthesizing the findings reported in the English literature retrieved from computerized MEDLINE database (accessed through PubMed) up until March 2020, using the keywords “endometriosis”, “genetic” and “epigenetic,” “DNA methylation,” “histone modification,” and “microRNA.”
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