• Genetic and Epigenetic Biomarkers in the Diagnosis and Treatment of Endometriosis: A Mini-Review
  • Javad Fazeli,1,* Maryam Shirmohamadi,2
    1. Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
    2. Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran


  • Introduction: Endometriosis is a chronic, estrogen-dependent inflammatory disorder affecting approximately 10% of women of childbearing age. It is characterised by the ectopic presence of endometrial-like tissue, it leads to pelvic pain, infertility, and diminished quality of life. Diagnosis is often delayed by 7–10 years, primarily due to non-specific symptoms and reliance on invasive laparoscopy. Recent advances have highlighted the significant genetic and epigenetic contributions to endometriosis. Genome-wide association studies (GWAS) have identified several loci associated with disease risk, including WNT4, VEZT, and GREB1. Furthermore, circulating microRNAs (miRNAs) are emerging as promising non-invasive biomarkers for diagnosis and monitoring. Integration of these molecular markers is promising for earlier detection and personalized treatment.
  • Methods: A structured literature search was performed in PubMed, Scopus, and Google Scholar for studies published between 2017 and 2024. Keywords included “endometriosis,” “genetics,” “GWAS,” “miRNA,” “biomarkers,” and “epigenetics.” Selected studies focused on genetic and epigenetic factors relevant to endometriosis diagnosis or therapy, including original research and systematic reviews.
  • Results: Recent genome-wide association studies (GWAS) have discovered many genetic loci linked to the risk of endometriosis. Significantly, genes like WNT4, VEZT, and GREB1 have been repeatedly associated in various studies. Variants in hormone-regulating genes, including ESR1 and FSHB, have also been shown to influence disease phenotype and progression, highlighting the complex polygenic nature of endometriosis. In parallel, accumulating evidence supports the diagnostic value of circulating microRNAs (miRNAs). A 2023 study identified a panel of five miRNAs—miR-542-3p, let-7b-3p, miR-548i, miR-769-5p, and miR-30c-1-3p—capable of distinguishing adolescents with endometriosis with high sensitivity and specificity. Additional miRNAs, such as miR-17-5p and miR-451a, have shown altered expression levels in both serum and tissue samples from affected individuals, reflecting disease activity and offering potential as dynamic biomarkers. Exosomal miRNAs, including miR-22-3p, miR-320a, and miR-1273g-3p, are involved in key signaling pathways such as PI3K/Akt, MAPK, and TGF-β, which regulate inflammation and cellular proliferation in endometriosis. These miRNAs are increasingly recognized not only as diagnostic tools but also as potential targets for monitoring treatment response. Furthermore, genetic profiling may provide predictive insight into therapeutic outcomes. For example, polymorphisms in ESR1 and PGR genes have been linked to varying responses to hormonal treatments, thereby supporting the application of precision medicine in clinical management. Targeting gene-regulated pathways—such as Wnt/β-catenin and NF-κB—could lead to the development of novel therapeutic strategies with improved specificity and reduced adverse effects.
  • Conclusion: Genetic and epigenetic research is advancing the understanding of endometriosis and opening new avenues for non-invasive diagnosis and personalized therapy. Validated genetic loci and circulating miRNAs represent promising biomarkers. Continued translational studies are essential to integrate these findings into clinical practice and improve patient outcomes.
  • Keywords: Endometriosis, GWAS, Genetic biomarkers, miRNA, Precision medicine