Snochowska Aleksandra, Szmigielska Paulina, Brzeziańska-Lasota Ewa, Tomaszewski Wiesław
Department of Molecular Bases of Medicine, Medical University of Lodz, Lodz, Poland.
College of Physiotherapy, Wrocław, Poland.
Ortop Traumatol Rehabil. 2017 May 10;19(3):227-237. doi: 10.5604/15093492.1240791.
Osteoarthritis (OA) is a widespread disease characterized by a multifaceted etiopathogenesis and complicated pathophysiology. OA is connected with systematic degeneration of subchondral bone tissue, articular cartilage, synovial membrane and stenosis of the joint space, which substantially contributes to premature reduction of functional mobility. The results of many epidemiological studies carried out in various populations around the world including genome-wide association studies and analysis of epigenetic modifications (such as miRNA expression, DNA methylation and histone modifications) have indicated a multifaceted nature of the disease. The aim of this paper is to present the state of the art for gene-expression level changes of relevance for the pathogenesis of osteoarthritis, including the contribution of epigenetic regulations.The source of search data for this paper was the PubMed database. The following keywords were used as search terms: osteoarthritis, GWAS, epigenetics and miRNA.The reports presented in this paper provide a starting point for further considerations regarding the development of personalized biological therapy. Several hypothetical strategies for the targeted OA treatment development exist nowadays. However, it is important to emphasize that in-depth understanding of the genetic-epigenetic interaction in OA pathogenesis is crucial. Based on the analysis of the aforementioned available study results, the following conclusions can be made: Both environmental factors and genetic-epigenetic interactions contribute to the complex pathogenesis of OA; OA risk genes have been identified; Differences in gene expression in OA may be helpful in assessing progression of the disease; The epigenetic goals of OA therapy have been indicated.
骨关节炎（OA）是一种广泛存在的疾病，其病因发病机制多方面且病理生理复杂。OA与软骨下骨组织、关节软骨、滑膜的系统性退变以及关节间隙狭窄相关，这在很大程度上导致了功能活动能力的过早下降。在世界各地不同人群中进行的许多流行病学研究结果，包括全基因组关联研究以及表观遗传修饰分析（如miRNA表达、DNA甲基化和组蛋白修饰），都表明了该疾病的多面性。本文的目的是阐述与骨关节炎发病机制相关的基因表达水平变化的现状，包括表观遗传调控的作用。本文的搜索数据来源是PubMed数据库。使用了以下关键词作为搜索词：骨关节炎、全基因组关联研究、表观遗传学和miRNA。本文所呈现的报告为进一步思考个性化生物治疗的发展提供了一个起点。目前存在几种针对OA治疗发展的假设策略。然而，必须强调的是，深入了解OA发病机制中的遗传 - 表观遗传相互作用至关重要。基于对上述现有研究结果的分析，可以得出以下结论：环境因素以及遗传 - 表观遗传相互作用都促成了OA复杂的发病机制；已确定OA风险基因；OA中基因表达的差异可能有助于评估疾病进展；已指出OA治疗的表观遗传目标。
