Skeletal Research Group, Biosciences Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
Skeletal Research Group, Biosciences Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
Osteoarthritis Cartilage. 2022 Feb;30(2):216-225. doi: 10.1016/j.joca.2021.11.004. Epub 2021 Nov 11.
In this review, we have highlighted the advances over the past year in genetics, genomics and epigenetics in the field of osteoarthritis (OA).
A literature search of PubMed was performed using the criteria: "osteoarthritis" and one of the following terms "genetic(s), genomic(s), epigenetic(s), polymorphism, noncoding ribonucleic acid (RNA), microRNA, long noncoding RNA, lncRNA, circular RNA, RNA sequencing (RNA-seq), single cell sequencing, transcriptomics, or deoxyribonucleic acid (DNA) methylation between April 01, 2020 and April 30, 2021.
In total we identified 765 unique publications, which eventually reduced to 380 of relevance to the field as judged by two assessors. Many of these studies included multiple search terms. We summarised advances relating to genetics, functional genetics, genomics and epigenetics, focusing on our personal key papers during the year.
This year few studies have identified new genetic variants contributing to OA susceptibility, but a focus has been on refining risk loci or their functional validation. The use of new technologies together with investigating the cross-talk between multiple tissue types, greater sample sizes and/or better patient classification (OA subtypes) will continue to increase our knowledge of disease mechanisms and progress towards understanding and treating OA.
在这篇综述中,我们强调了过去一年在骨关节炎(OA)领域遗传学、基因组学和表观遗传学方面的进展。
使用以下标准在 PubMed 上进行文献检索:“骨关节炎”和以下术语之一:“遗传(s)”、“基因组(s)”、“表观遗传(s)”、“多态性”、“非编码核糖核酸(RNA)”、“microRNA”、“长非编码 RNA”、“lncRNA”、“环状 RNA”、“RNA 测序(RNA-seq)”、“单细胞测序”、“转录组学”或“脱氧核糖核酸(DNA)甲基化”,检索时间为 2020 年 4 月 1 日至 2021 年 4 月 30 日。
我们总共确定了 765 篇独特的出版物,最终根据两名评估员的判断,其中 380 篇与该领域相关。其中许多研究包含多个搜索术语。我们总结了与遗传学、功能遗传学、基因组学和表观遗传学相关的进展,重点介绍了我们个人在这一年中的关键论文。
今年,很少有研究确定了导致 OA 易感性的新遗传变异,但重点是细化风险位点或其功能验证。新技术的应用以及研究多种组织类型之间的相互作用、增加样本量和/或更好地对患者进行分类(OA 亚型)将继续增加我们对疾病机制的了解,并有助于理解和治疗 OA。