Epigenetics in autoimmune diseases with focus on type 1 diabetes

Diabetes Metab Res Rev. 2013 Jan;29(1):8-18. doi: 10.1002/dmrr.2375.


Autoimmune diseases arise when the body mounts an immune response against 'self' cells and tissues causing inflammation and damage. It is commonly accepted that these diseases develop because of the interplay of genetic and environmental factors. Evidence for genetic factors includes the higher concordance of disease in monozygotic twins than in dizygotic twins. However, monozygotic twins may remain discordant for disease indicating a role for environmental factors. Environmental factors may alter gene expression via epigenetic mechanisms. This is particularly pertinent in type 1 diabetes in which DNA methylation and histone modifications have been associated with altered gene expression. The low disease concordance rate in adult-onset type 1 diabetes (<20%) suggests that environmental and epigenetic changes may play a predominant role. Defining the role of epigenetic changes could identify specific gene pathways and dysregulated expression of gene products that contribute to the pathogenesis of type 1 diabetes. This article reviews how epigenetic mechanisms may contribute to the development of autoimmune diseases with a focus on type 1 diabetes.

Publication types

  • Review

MeSH terms

  • Autoimmune Diseases / genetics*
  • DNA Methylation
  • Diabetes Mellitus, Type 1 / genetics*
  • Epigenesis, Genetic
  • Gene-Environment Interaction
  • Histones / genetics
  • Humans
  • Twins, Dizygotic / genetics
  • Twins, Monozygotic / genetics


  • Histones