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Celiac disease: From genetics to epigenetics.

Elisa Gnodi1, Raffaella Meneveri1, Donatella Barisani2

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Epigenetics, including DNA methylation and non-coding RNAs, plays a crucial role in celiac disease (CeD) beyond genetics. Understanding these epigenetic factors may improve CeD risk detection and diagnosis.

Keywords:
Celiac diseaseDNA methylationEpigeneticsHistone modificationsLong non-coding RNAsMicroRNAs

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Area of Science:

  • Immunology
  • Genetics
  • Epigenetics

Background:

  • Celiac disease (CeD) is a global autoimmune disorder triggered by gluten exposure.
  • Genetic predisposition (HLA-DQ2/DQ8) is necessary but insufficient for CeD development.
  • Delayed diagnosis is common due to a wide spectrum of CeD symptoms.

Purpose of the Study:

  • To investigate the role of epigenetic modifications in celiac disease pathogenesis.
  • To explore additional predisposing factors beyond genetics.
  • To assess the potential of epigenetic profiling for CeD diagnosis and classification.

Main Methods:

  • Analysis of epigenetic modifications in CeD, including DNA methylation, histone modifications, and non-coding RNAs.
  • Review of studies on genetic variants associated with CeD and other autoimmune diseases.
  • Examination of epigenetic involvement in CeD complications and pathogenic pathways.

Main Results:

  • Epigenetic factors, such as DNA methylation and non-coding RNAs, significantly influence gene expression in CeD.
  • Shared genetic variants with other autoimmune diseases suggest common underlying mechanisms.
  • Epigenetic modifications are implicated in CeD development and its complications.

Conclusions:

  • Epigenetics offers a new perspective on CeD predisposition and pathogenesis.
  • Epigenetic profiling may serve as a valuable biomarker for discriminating CeD patient classes.
  • Further research into epigenetic mechanisms can enhance early detection and understanding of CeD.