The role of genetics and epigenetics in rheumatic diseases: are they really a target to be aimed at?
The role of genetics and epigenetics in rheumatic diseases: are they really a target to be aimed at?
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DOI：
10.1007/s00296-018-4026-0
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发表时间：
2018-04
影响因子：
4
通讯作者：
M. Kato;S. Yasuda;T. Atsumi
中科院分区：
文献类型：
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作者：
M. Kato;S. Yasuda;T. Atsumi
迄今为止，已经进行了大量的遗传和表观遗传研究，为我们理解风湿性疾病的发病机制迈出了关键的一步。然而，大多数风湿性疾病治疗的最新进展，包括生物疗法，都不是基于这些遗传和表观遗传的发现，甚至与这些发现不一致。例如，肿瘤坏死因子抑制剂在治疗类风湿性关节炎（RA）、白塞氏病（BD）、强直性脊柱炎（AS）和银屑病关节炎（PsA）中相当成功，但在治疗系统性红斑狼疮（SLE）、系统性硬化症（SSc）、干燥综合征（SS）和抗神经元胞质抗体相关血管炎（AAV）中不成功，相反，RA与SLE更共享遗传背景，SSc、SS和AAV的感染率高于BD、AS和PsA。在这篇综述中，我们简要强调了最近的遗传和表观遗传研究的结果，并讨论了需要研究什么，以提供一种新的，更有效的管理风湿性疾病。
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.