Impact of Epigenetics on Gynecological Disorders: A Comprehensive Study of Endometriosis, Fibroids, and Ovarian Cancer

Abstract

Background: Epigenetics plays a pivotal role in the pathogenesis of gynecological disorders such as endometriosis, fibroids, and ovarian cancer. The interaction between genetic predispositions and environmental factors, modulated by epigenetic alterations, has led to an increasing recognition of their contribution to disease onset and progression. Objective: This study aimed to explore the impact of epigenetic changes, including DNA methylation and histone modifications, in the development of endometriosis, fibroids, and ovarian cancer, providing a deeper understanding of their molecular mechanisms. Methods: A total of 188 patients diagnosed with endometriosis, fibroids, and ovarian cancer were enrolled from the Department of Gynecologic Oncology at Northwestern University. Epigenetic analyses, including DNA methylation profiling and histone modification assays, were conducted on tissue samples collected between January 2023 and June 2024. Statistical analyses, including t-tests, ANOVA, and Pearson’s correlation, were used to compare the epigenetic alterations across patient groups. The relationship between epigenetic modifications and clinical variables such as disease severity and age was also assessed. Results: Of the 188 patients, 68% exhibited significant DNA methylation changes in genes associated with tumorigenesis (p<0.05). Histone modifications were observed in 52% of fibroid and 72% of ovarian cancer samples (p<0.01). The standard deviation in DNA methylation levels was 0.23 for endometriosis, 0.31 for fibroids, and 0.45 for ovarian cancer. The p-value for histone modification correlation with disease progression was 0.02, indicating a significant relationship. Additionally, 83% of ovarian cancer patients showed hypermethylation in key tumor suppressor genes (BRCA1, PTEN), and this was correlated with advanced-stage disease (p<0.01). A positive correlation was found between DNA methylation and clinical parameters, including disease severity (r=0.72, p<0.05) and age of onset (r=0.63, p<0.05). Histone modification levels were significantly higher in ovarian cancer (mean=0.68, SD=0.15) compared to fibroids (mean=0.41, SD=0.12), with a p-value of 0.001, reflecting the greater impact of epigenetic changes on malignant transformations. In addition, non-coding RNA expression levels were elevated by 42% in fibroid samples, correlating with increased cellular proliferation (p=0.03). Conclusion: Epigenetic modifications significantly contribute to the pathogenesis of gynecological disorders, with potential implications for early diagnosis, prognostic markers, and targeted therapies.