de la Calle-Fabregat Carlos, Rodríguez-Ubreva Javier, Cañete Juan D, Ballestar Esteban
Epigenetics and Immune Disease Group, Josep Carreras Research Institute (IJC), 08916 Badalona, Barcelona, Spain.
Rheumatology Department, Arthritis Unit, Hospital Clinic and IDIBAPS, 08036 Barcelona, Spain.
Rheumatol Immunol Res. 2022 Oct 20;3(3):103-110. doi: 10.2478/rir-2022-0018. eCollection 2022 Oct.
In just a few years, the number of epigenetic studies in autoimmune rheumatic and inflammatory diseases has greatly increased. This is in part due to the need of identifying additional determinants to genetics to explain the pathogenesis and development of these disorders. In this regard, epigenetics provides potential mechanisms that determine gene function, are linked to environmental factors, and could explain a wide range of phenotypic variability among patients with these diseases. Despite the high interest and number of studies describing epigenetic alterations under these conditions and exploring their relationship to various clinical aspects, few of the proposed biomarkers have yet reached clinical practice. The potential of epigenetic markers is high, as these alterations link measurable features with a number of biological traits. In the present article, we present published studies in the field, discuss some frequent limitations in the existing research, and propose a number of considerations that should be taken into account by those starting new projects in the field, with an aim to generate biomarkers that could make it into the clinics.
在短短几年内，自身免疫性风湿和炎症性疾病的表观遗传学研究数量大幅增加。部分原因在于需要确定除遗传学之外的其他决定因素，以解释这些疾病的发病机制和发展过程。在这方面，表观遗传学提供了决定基因功能、与环境因素相关联、并能解释这些疾病患者广泛表型变异性的潜在机制。尽管对描述这些情况下表观遗传改变并探索其与各种临床方面关系的研究兴趣浓厚且数量众多，但很少有提出的生物标志物进入临床实践。表观遗传标志物的潜力巨大，因为这些改变将可测量特征与许多生物学特性联系起来。在本文中，我们展示了该领域已发表的研究，讨论了现有研究中一些常见的局限性，并提出了该领域新项目启动者应考虑的一些因素，旨在生成能够进入临床的生物标志物。
