遗传学与表观遗传学在骨关节炎中的相互作用。

Interplay between genetics and epigenetics in osteoarthritis.

机构信息

Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK.

Department of Physiology and Pharmacology, The University of Western Ontario, London, ON, Canada.

出版信息

Nat Rev Rheumatol. 2020 May;16(5):268-281. doi: 10.1038/s41584-020-0407-3. Epub 2020 Apr 9.

Abstract

Research into the molecular genetics of osteoarthritis (OA) has been substantially bolstered in the past few years by the implementation of powerful genome-wide scans that have revealed a large number of novel risk loci associated with the disease. This refreshing wave of discovery has occurred concurrently with epigenetic studies of joint tissues that have examined DNA methylation, histone modifications and regulatory RNAs. These epigenetic analyses have involved investigations of joint development, homeostasis and disease and have used both human samples and animal models. What has become apparent from a comparison of these two complementary approaches is that many OA genetic risk signals interact with, map to or correlate with epigenetic mediators. This discovery implies that epigenetic mechanisms, and their effect on gene expression, are a major conduit through which OA genetic risk polymorphisms exert their functional effects. This observation is particularly exciting as it provides mechanistic insight into OA susceptibility. Furthermore, this knowledge reveals avenues for attenuating the negative effect of risk-conferring alleles by exposing the epigenome as an exploitable target for therapeutic intervention in OA.

摘要

过去几年,通过实施强大的全基因组扫描,骨关节炎(OA)的分子遗传学研究得到了极大的推动,揭示了大量与该疾病相关的新风险位点。这一令人耳目一新的发现与关节组织的表观遗传学研究同时发生,这些研究检查了 DNA 甲基化、组蛋白修饰和调节 RNA。这些表观遗传学分析涉及关节发育、动态平衡和疾病的研究,并使用了人类样本和动物模型。通过比较这两种互补方法,显而易见的是,许多 OA 遗传风险信号与表观遗传介质相互作用、映射到或相关。这一发现表明,表观遗传机制及其对基因表达的影响,是 OA 遗传风险多态性发挥其功能作用的主要途径。这一观察结果尤其令人兴奋,因为它为 OA 易感性提供了机制上的见解。此外,这一知识揭示了通过暴露于表观基因组作为 OA 治疗干预的可利用靶点来减轻风险赋予等位基因的负面影响的途径。

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