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Autoimmune disorders are a complex and varied group of diseases that are caused by breakdown of self-tolerance. The aetiology of autoimmunity is multi-factorial, with both environmental triggers and genetically determined risk factors. In recent years, it has been increasingly recognized that genetic risk factors do not act in isolation, but rather the combination of individual additive effects, gene-gene interactions and gene-environment interactions determine overall risk of autoimmunity. The importance of gene-gene interactions, or epistasis, has been recently brought into focus, with research demonstrating that many autoimmune diseases, including rheumatic arthritis, autoimmune glomerulonephritis, systemic lupus erythematosus and multiple sclerosis, are influenced by epistatic interactions. This review sets out to examine the basic mechanisms of epistasis, how epistasis influences the immune system and the role of epistasis in two major autoimmune conditions, systemic lupus erythematosus and multiple sclerosis.

Original publication

DOI

10.1111/j.1365-2567.2012.03623.x

Type

Journal article

Journal

Immunology

Publication Date

10/2012

Volume

137

Pages

131 - 138

Addresses

Department of Genetics, UCL Institute of Ophthalmology, London, UK. anna.rose@ucl.ac.uk

Keywords

Immune System, Animals, Humans, Autoimmune Diseases, Epistasis, Genetic, Genotype, Phenotype