School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.
School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong SAR, China.
Osteoarthritis Cartilage. 2023 Jul;31(7):865-875. doi: 10.1016/j.joca.2023.03.003. Epub 2023 Mar 15.
This "year in review" provides a summary of the research findings on the topic of genetics, genomics and epigenetics for osteoarthritis (OA) between Mar 2021-Apr 2022. A search routine of the literature in PubMed for the keyword, osteoarthritis, together with topics on genetics, genomics, epigenetics, polymorphism, Deoxyribonucleic acid (DNA) methylation, noncoding RNA, lncRNA, proteomics, and single cell RNA sequencing, returned key research articles and relevant reviews. Following filtering of duplicates across search routines, 695 unique research articles and 112 reviews were identified. We manually curated these articles and selected 90 as references for this review. However, we were unable to refer to all these articles, and only used selected articles to highlight key outcomes and trends. The trend in genetics is on the meta-analysis of existing cohorts with comparable genetic and phenotype characterization of OA; in particular, clear definition of sub phenotypes to enhance the genetic power. Further, many researchers are realizing the power of big data and multi-omics approaches to gain molecular insights for OA, and this has opened innovative approaches to include transcriptomics and epigenetics data as quantitative trait loci (QTLs). Given that most of the genetic loci for OA are not located within coding regions of genes, implying the impact is likely to be on gene regulation, epigenetics is a hot topic, and there is a surge in studies relating to the role of miRNA and long non-coding RNA on cartilage biology and pathology. The findings are exciting and new insights are provided in this review to summarize a year of research and the road map to capture all new innovations to achieve the desired goal in OA prevention and treatment.
这篇“年度回顾”总结了 2021 年 3 月至 2022 年 4 月间关于骨关节炎（OA）遗传学、基因组学和表观遗传学的研究发现。通过在 PubMed 上使用关键词“骨关节炎”以及与遗传学、基因组学、表观遗传学、多态性、脱氧核糖核酸（DNA）甲基化、非编码 RNA、长链非编码 RNA、蛋白质组学和单细胞 RNA 测序相关的主题进行文献搜索程序，返回了关键的研究文章和相关综述。在对搜索程序中的重复项进行过滤后，共确定了 695 篇独特的研究文章和 112 篇综述。我们对这些文章进行了人工整理，并选择了 90 篇作为本综述的参考文献。然而，我们无法参考所有这些文章，仅使用了选定的文章来突出关键结果和趋势。遗传学的趋势是对具有可比 OA 遗传和表型特征的现有队列进行荟萃分析；特别是，明确亚表型的定义以增强遗传力。此外，许多研究人员已经意识到大数据和多组学方法的力量，可以为 OA 获得分子见解，这为包括转录组学和表观遗传学数据在内的定量性状基因座（QTL）开辟了创新方法。鉴于 OA 的大多数遗传基因座并不位于基因的编码区域内，这意味着影响可能在于基因调控，因此表观遗传学是一个热门话题，关于 miRNA 和长链非编码 RNA 在软骨生物学和病理学中的作用的研究也在激增。这些发现令人兴奋，本综述提供了新的见解，总结了一年的研究成果，并为捕捉所有新的创新提供了路线图，以实现 OA 预防和治疗的预期目标。
