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REVIEW - The genetics and epigenetics of autoimmune diseases

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J Autoimmun. 2009 Aug;33(1):3-11. Epub 2009 Apr 5.

The genetics and epigenetics of autoimmune diseases.

Hewagama A, B.

Department of Medicine, University of Michigan, 1500 E. Medical Center

Drive, Ann Arbor, MI 48109, USA.

Self tolerance loss is fundamental to autoimmunity. While

understanding of immune regulation is expanding rapidly, the

mechanisms causing loss of tolerance in most autoimmune diseases

remain elusive. Autoimmunity is believed to develop when genetically

predisposed individuals encounter environmental agents that trigger

the disease. Recent advances in the genetic and environmental

contributions to autoimmunity suggest that interactions between

genetic elements and epigenetic changes caused by environmental agents

may be responsible for inducing autoimmune disease. Genetic loci

predisposing to autoimmunity are being identified through multi-center

consortiums, and the number of validated genes is growing rapidly.

Recent reports also indicate that the environment can contribute to

autoimmunity by modifying gene expression through epigenetic

mechanisms. This article will review current understanding of the

genetics and epigenetics of lupus, rheumatoid arthritis, multiple

sclerosis and type 1 diabetes, using systemic lupus erythematosus as

the primary example. Other autoimmune diseases may have a similar

foundation.

PMID: 19349147

http://www.ncbi.nlm.nih.gov/pubmed/19349147

Not an MD

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