Schroeder Arthritis Institute, University Health Network, Toronto, ON, Canada; Krembil Research Institute, University Health Network, Toronto, ON, Canada.
Schroeder Arthritis Institute, University Health Network, Toronto, ON, Canada; Krembil Research Institute, University Health Network, Toronto, ON, Canada; Department of Surgery, Faculty of Medicine, University of Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
Osteoarthritis Cartilage. 2021 Feb;29(2):151-160. doi: 10.1016/j.joca.2020.11.003. Epub 2020 Nov 21.
In this review, we have highlighted advances in genetics, genomics and epigenetics in the field of osteoarthritis (OA) over the past year.
A literature search was performed using PubMed and the criteria: "osteoarthritis" and one of the following terms "genetic(s), genomic(s), epigenetic(s), epigenomic(s), noncoding RNA, microRNA, long noncoding RNA, lncRNA, circular RNA, RNA sequencing, single cell sequencing, or DNA methylation between April 1, 2019 and April 30, 2020.
We identified 653 unique publications, many studies spanned multiple search terms. We summarized advances relating to evolutionary genetics, pain, ethnicity specific risk factors, functional studies of gene variants, and interactions between coding and non-coding RNAs in OA pathogenesis.
Studies have identified variants contributing to OA susceptibility, candidate biomarkers for diagnosis and prognosis, as well as promising therapeutic candidates. Validation in multiple cohorts, multi-omics strategies, and machine learning aided computational analyses have all contributed to the strength of published literature. Open access data-sets, greater sample sizes to capture broader populations and understanding disease mechanisms by investigating the interactions between multiple tissue types will further aid in progress towards understanding and curing OA.
在这篇综述中，我们强调了过去一年中在骨关节炎 (OA) 领域遗传学、基因组学和表观遗传学方面的进展。
使用 PubMed 进行文献检索，并使用以下标准：“骨关节炎”和以下术语之一：“遗传（s）”、“基因组（s）”、“表观遗传（s）”、“表观基因组（s）”、“非编码 RNA”、“microRNA”、“长非编码 RNA”、“lncRNA”、“环状 RNA”、“RNA 测序”、“单细胞测序”或“DNA 甲基化”，检索时间为 2019 年 4 月 1 日至 2020 年 4 月 30 日。
我们确定了 653 篇独特的出版物，许多研究涵盖了多个搜索术语。我们总结了与进化遗传学、疼痛、特定种族风险因素、基因变异的功能研究以及 OA 发病机制中编码和非编码 RNA 之间相互作用相关的进展。
研究已经确定了导致 OA 易感性的变异、用于诊断和预后的候选生物标志物，以及有前途的治疗候选物。在多个队列中的验证、多组学策略以及机器学习辅助的计算分析都为已发表文献的优势做出了贡献。开放获取数据集、更大的样本量以捕获更广泛的人群以及通过研究多种组织类型之间的相互作用来了解疾病机制，将进一步有助于理解和治疗 OA 的进展。
