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Published in: Rheumatology International 8/2015

01-08-2015 | Review Article - Review on Pathogenesis

Epigenetics of osteoarticular diseases: recent developments

Authors: S. B. Roberts, E. Wootton, L. De Ferrari, O. M. Albagha, D. M. Salter

Published in: Rheumatology International | Issue 8/2015

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Abstract

A variety of osteoarticular conditions possess an underlying genetic aetiology. Large-scale genome-wide association studies have identified several genetic loci associated with osteoarticular conditions, but were unable to fully account for their estimated heritability. Epigenetic modifications including DNA methylation, histone modification, nucleosome positioning, and microRNA expression may help account for this incomplete heritability. This articles reviews insights from epigenetic studies in osteoarticular diseases, focusing on osteoarthritis, but also examines recent advances in rheumatoid arthritis, osteoporosis, systemic lupus erythematosus (SLE), ankylosing spondylitis, and sarcoma. Genome-wide methylation studies are permitting identification of novel candidate genes and molecular pathways, and the pathogenic mechanisms with altered methylation status are beginning to be elucidated. These findings are gradually translating into improved understanding of disease pathogenesis and clinical applications. Functional studies in osteoarthritis, rheumatoid arthritis, and SLE are now identifying downstream molecular alterations that may confer disease susceptibility. Epigenetic markers are being validated as prognostic and therapeutic disease biomarkers in sarcoma, and clinical trials of hypomethylating agents as treatments for sarcoma are being conducted. In concert with advances in throughput and cost-efficiency of available technologies, future epigenetic research will enable greater characterisation and treatment for both common and rare osteoarticular diseases.
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Metadata
Title
Epigenetics of osteoarticular diseases: recent developments
Authors
S. B. Roberts
E. Wootton
L. De Ferrari
O. M. Albagha
D. M. Salter
Publication date
01-08-2015
Publisher
Springer Berlin Heidelberg
Published in
Rheumatology International / Issue 8/2015
Print ISSN: 0172-8172
Electronic ISSN: 1437-160X
DOI
https://doi.org/10.1007/s00296-015-3260-y

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