Epigenetics in human autoimmunity

Abstract

Epigenetic mechanisms are essential for normal development and function of the immune system. Similarly, a failure to maintain epigenetic homeostasis in the immune response due to factors including environmental influences, leads to aberrant gene expression, contributing to immune dysfunction and in some cases the development of autoimmunity in genetically predisposed individuals. This is exemplified by systemic lupus erythematosus, where environmentally induced epigenetic changes contribute to disease pathogenesis in those genetically predisposed. Similar interactions between genetically determined susceptibility and environmental factors are implicated in other systemic autoimmune diseases such as rheumatoid arthritis and scleroderma, as well as in organ specific autoimmunity. The skin is exposed to a wide variety of environmental agents, including UV radiation, and is prone to the development of autoimmune conditions such as atopic dermatitis, psoriasis and some forms of vitiligo, depending on environmental and genetic influences. Herein we review how disruption of epigenetic mechanisms can alter immune function using lupus as an example, and summarize how similar mechanisms may contribute to other human autoimmune rheumatic and skin diseases.

• Epigenetics
• DNA methylation
• lupus
• psoriasis
• atopic dermatitis
• vitiligo

Acknowledgements

The authors thank Ms Cindy Bourke for her expert secretarial assistance. This work was supported by PHS grants AR42525, AG25877, ES015214 and a Merit grant from the Veterans Administration.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.