Beyond the Genome: Can Epigenetics Forecast Therapeutic Success in Graves' Disease and Thyroid Eye Disease?

Jacopo Manso1, Dario Sardone2, Vincenzo Marotta3

  • 1Endocrinology Unit, Oncology Area Department, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), 33100 Udine, Italy.

Insights

Epigenetic biomarkers like DNA methylation and microRNAs show promise for predicting treatment response in Graves' disease and Thyroid Eye Disease. These markers can help personalize therapies for autoimmune thyroid conditions.

Area of Science:

  • Endocrinology
  • Immunology
  • Genetics

Background:

  • Graves' disease (GD) and Thyroid Eye Disease (TED) are autoimmune disorders with variable treatment responses.
  • Up to 50% of GD patients relapse after antithyroid drug (ATD) withdrawal, and 20-50% of TED patients are resistant to glucocorticoid (GC) therapy.

Purpose of the Study:

  • To review epigenetic modifications as predictive biomarkers for personalized treatment in GD and TED.
  • Focus on DNA methylation and microRNAs (miRNAs) for predicting treatment outcomes.

Main Methods:

  • Systematic review of recent findings (up to 2025) from PubMed.
  • Analysis of studies investigating DNA methylation and miRNA signatures in relation to treatment response.

Main Results:

  • For GD, hypomethylation of Th17-associated genes in T cells indicates ATD relapse risk.
  • Circulating miRNAs (miR-346, miR-23b-5p, miR-92a-3p) may predict GD remission.
  • For TED, specific miRNAs predict GC sensitivity: high miR-146a indicates positive response, low miR-224-5p indicates non-responsiveness.

Conclusions:

  • Epigenetic biomarkers, particularly miRNAs, offer potential for stratifying patients and optimizing treatment in Graves' autoimmunity.
  • Research gaps exist regarding histone modifications and epigenetic predictors for biologic therapies.

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