为自身免疫性风湿病的表观遗传生物标记开发设计研究。

Rheumatology and immunology research Pub Date : 2022-10-20 eCollection Date: 2022-10-01 DOI:10.2478/rir-2022-0018
Carlos de la Calle-Fabregat, Javier Rodríguez-Ubreva, Juan D Cañete, Esteban Ballestar
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摘要

短短几年间,有关自身免疫性风湿病和炎症性疾病的表观遗传学研究大大增加。这部分是由于需要确定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的潜在机制,这些机制与环境因素有关,可以解释这些疾病患者的各种表型变异。尽管人们对这些情况下的表观遗传学改变非常感兴趣,也有大量研究描述了这些改变,并探讨了它们与各种临床方面的关系,但所提出的生物标志物中只有极少数已应用于临床实践。表观遗传标记的潜力很大,因为这些改变将可测量的特征与许多生物特征联系起来。在本文中,我们介绍了该领域已发表的研究,讨论了现有研究中经常出现的一些局限性,并提出了在该领域启动新项目的人员应考虑的一些因素,目的是产生可应用于临床的生物标志物。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Designing Studies for Epigenetic Biomarker Development in Autoimmune Rheumatic Diseases.

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.

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