Genetic and Epigenetic Aspects of Atopic Dermatitis

Int J Mol Sci. 2020 Sep 4;21(18):6484. doi: 10.3390/ijms21186484.


Atopic dermatitis is a heterogeneous disease, in which the pathogenesis is associated with mutations in genes encoding epidermal structural proteins, barrier enzymes, and their inhibitors; the role of genes regulating innate and adaptive immune responses and environmental factors inducing the disease is also noted. Recent studies point to the key role of epigenetic changes in the development of the disease. Epigenetic modifications are mainly mediated by DNA methylation, histone acetylation, and the action of specific non-coding RNAs. It has been documented that the profile of epigenetic changes in patients with atopic dermatitis (AD) differs from that observed in healthy people. This applies to the genes affecting the regulation of immune response and inflammatory processes, e.g., both affecting Th1 bias and promoting Th2 responses and the genes of innate immunity, as well as those encoding the structural proteins of the epidermis. Understanding of the epigenetic alterations is therefore pivotal to both create new molecular classifications of atopic dermatitis and to enable the development of personalized treatment strategies.

Keywords: DNA methylation; FLG; SPINK genes; atopic dermatitis; epigenome; genetics; histone modifications; micro-RNA; skin barrier dysfunction.

Publication types

  • Review

MeSH terms

  • DNA Methylation / genetics
  • Dermatitis, Atopic / genetics*
  • Dermatitis, Atopic / metabolism*
  • Epidermis / metabolism
  • Epigenesis, Genetic / genetics
  • Epigenomics / methods
  • Filaggrin Proteins
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Immunity, Innate / genetics
  • Mutation / genetics
  • Serine Peptidase Inhibitors, Kazal Type / genetics
  • Skin / metabolism
  • Skin / pathology
  • Skin Physiological Phenomena / genetics


  • FLG protein, human
  • Filaggrin Proteins
  • Serine Peptidase Inhibitors, Kazal Type