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Epigenetics in Rheumatology Research

Emmanuel Karouzakis, MSc, Michel Neidhart, PhD, Steffen Gay, MD, and Caroline Ospelt, MD

Rheumatic diseases such as rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) are an important group of autoimmune diseases in which the loss of self tolerance in the immune system leads to the formation of autoantibodies to self-antigens. However, the etiology of these rheumatic diseases is presently unknown. During the past few years, different disease-susceptibility genes have been identified using high-throughput single nucleotide polymorphism (SNP) analyses. It has been noted, however, that rheumatic diseases have a high discordant rate between identical twins, which suggests a strong influence of non-genetic factors such as epigenetics [1]. Monozygotic twins that live in different environments have been shown to possess different epigenetic marks [2]. Epigenetics describes heritable changes in gene expression that occur without a change in the DNA base code; rather, the changes occur via DNA methylation and histone modifications. In addition, microRNAs (miRNAs) epigenetically regulate expression of genes by repressing mRNA translation or promoting mRNA degradation. Specific epigenetic marks are established during embryogenesis and are responsible for tissue-specific gene expression. Moreover, environmental factors can alter the epigenome and thereby contribute to the development of a variety of diseases such as tumors and autoimmunity. Alterations in epigenetic modifications have been found in rheumatic diseases and have become an interesting novel topic of research. They may not only explain the effect of environmental risk factors but also why many rheumatic diseases are more frequent in women than in men, since silencing of one X chromosome in women is maintained by epigenetic mechanisms [3]. It is hypothesized that dysregulation of epigenetic mechanisms that silence the inactive X chromosome contribute to the high incidence of rheumatic diseases in women.

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