The therapeutic potential of epigenetics in autoimmune diseases

Maria De Santis, Carlo Selmi

Research output: Contribution to journalArticlepeer-review

45 Scopus citations


Autoimmune diseases now include over 100 conditions and are estimated to affect over 20 million people in the United States or 5% of the world population with numerous geographical differences coined as geoepidemiology. Further, concordance rates in monozygotic twins are significantly higher compared to dizygotic sets while being significantly below 50% for most autoimmune diseases. These lines of evidence suggest that additional mechanisms are needed to link the individual susceptibility with the proposed chemical and infectious factors in the environment. Epigenetics may well constitute this missing link to include DNA methylation, histone changes, and microRNA which contribute to the epigenome characterizing specific diseases. Importantly, these epigenetic changes may be ideal targets for new personalized treatments as suggested by data in cancer. A number of chemical and physical factors, along with proposed infectious agents or aging, are involved in the etiopathogenesis of autoimmune diseases through epigenetic changes. The most prominent evidence on the association between environment and autoimmunity has been reported in systemic lupus erythematosus, but similar mechanisms were proposed in rheumatoid arthritis, systemic sclerosis, and type 1 diabetes.

Original languageEnglish (US)
Pages (from-to)92-101
Number of pages10
JournalClinical Reviews in Allergy and Immunology
Issue number1
StatePublished - Feb 2012
Externally publishedYes


  • DNA Methylation
  • Environment
  • Geoepidemiology
  • Histone modification
  • Tolerance breakdown

ASJC Scopus subject areas

  • Immunology and Allergy


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