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The role of genetics and epigenetics in rheumatic diseases: are they really a target to be aimed at?

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Abstract

To date, numerous genetic and epigenetic studies have been performed and provided a crucial step forward in our understanding of the pathogenesis of rheumatic diseases. However, most of the recent advances in the treatment of rheumatic diseases including biological therapies are not based on or even discrepant from these genetic and epigenetic findings. For example, tumor necrosis factor inhibitors are quite successful in the treatment of rheumatoid arthritis (RA), Behçet’s disease (BD), ankylosing spondylitis (AS) and psoriatic arthritis (PsA) but not in that of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), Sjögren’s syndrome (SS) and antineutrophil cytoplasmic antibody-associated vasculitis (AAV), conversely, RA shares genetic backgrounds more with SLE, SSc, SS and AAV than BD, AS and PsA. In this review, we briefly highlight the findings from recent genetic and epigenetic studies and discuss what needs to be studied to provide a novel, more efficacious management of rheumatic diseases.

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MK wrote the manuscript. SY and TA critically reviewed and revised the manuscript.

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Correspondence to Masaru Kato.

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Author MK declares that he has no conflict of interest. Author SY declares that he has no conflict of interest. Author TA declares that he has no conflict of interest.

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This article does not contain any studies with human participants or animals performed by any of the authors.

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Kato, M., Yasuda, S. & Atsumi, T. The role of genetics and epigenetics in rheumatic diseases: are they really a target to be aimed at?. Rheumatol Int 38, 1333–1338 (2018). https://doi.org/10.1007/s00296-018-4026-0

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  • DOI: https://doi.org/10.1007/s00296-018-4026-0

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