Chromatin and Disease Group, Cancer Epigenetics and Biology Program (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), Avenida Gran Via 199-203, 08908 L'Hospitalet de Llobregat, Barcelona, Spain.
Nat Rev Rheumatol. 2017 Oct;13(10):593-605. doi: 10.1038/nrrheum.2017.147. Epub 2017 Sep 14.
Over the past decade, awareness of the importance of epigenetic alterations in the pathogenesis of rheumatic diseases has grown in parallel with a general recognition of the fundamental role of epigenetics in the regulation of gene expression. Large-scale efforts to generate genome-wide maps of epigenetic modifications in different cell types, as well as in physiological and pathological contexts, illustrate the increasing recognition of the relevance of epigenetics. To date, although several reports have demonstrated the occurrence of epigenetic alterations in a wide range of inflammatory rheumatic conditions, epigenomic information is rarely used in a clinical setting. By contrast, several epigenetic biomarkers and treatments are currently in use for personalized therapies in patients with cancer. This Review highlights advances from the past 5 years in the field of epigenetics and their application to inflammatory rheumatic diseases, delineating the future lines of development for a rational use of epigenetic information in clinical settings and in personalized medicine. These advances include the identification of epipolymorphisms associated with clinical outcomes, DNA methylation as a contributor to disease susceptibility in rheumatic conditions, the discovery of novel epigenetic mechanisms that modulate disease susceptibility and the development of new epigenetic therapies.
在过去的十年中，人们对表观遗传改变在风湿性疾病发病机制中的重要性的认识与对表观遗传学在基因表达调控中的基本作用的普遍认识同步增长。为了生成不同细胞类型以及生理和病理环境中表观遗传修饰的全基因组图谱，开展了大规模的努力，这说明了人们对表观遗传学相关性的认识不断提高。迄今为止，尽管有几项报告表明，在广泛的炎症性风湿性疾病中存在表观遗传改变，但在临床环境中很少使用表观基因组信息。相比之下，目前有几种表观遗传生物标志物和治疗方法用于癌症患者的个体化治疗。这篇综述重点介绍了过去 5 年在表观遗传学领域的进展及其在炎症性风湿性疾病中的应用，为在临床环境和个体化医疗中合理利用表观遗传信息描绘了未来的发展方向。这些进展包括鉴定与临床结果相关的表观多态性、DNA 甲基化作为风湿性疾病易感性的一个贡献因素、发现调节疾病易感性的新的表观遗传机制以及开发新的表观遗传治疗方法。
