Waheed Amina, Rai Muhammad Farooq
Department of Biology, University of Wisconsin-Madison, Madison, WI, United States.
Department of Anatomy and Cellular Biology, College of Medicine and Health Sciences, Khalifa University, Abu Dhabi, United Arab Emirates; Division of Rheumatology, Department of Medicine, Washington University School of Medicine, St. Louis, MO, United States; Department of Biomedical Engineering, Saint Louis University School of Science and Engineering, St. Louis, MO, United States.
Osteoarthritis Cartilage. 2024 Feb;32(2):128-137. doi: 10.1016/j.joca.2023.11.006. Epub 2023 Nov 17.
To elucidate the scientific advances made in the last 12 months within the realm of osteoarthritis genetics, genomics, and epigenetics. This review paper highlights major research publications that enhance our current understanding of the role of genetics, genomics, and epigenetics in osteoarthritis.
A systematic literature search was conducted on pubmed.ncbi.nlm.nih.gov on "March 17, 2023", using the following keywords: "osteoarthritis" in combination with any of these terms: "genetic(s)", "mutation(s)", "genomic(s)", "epigenetic(s)", "DNA methylation", "noncoding RNA", "lncRNA", "circular RNA", "microRNA", "transcriptomic(s)", "RNA sequencing", "single cell RNA sequencing", or "single nucleus RNA sequencing". The selection comprised original research articles published in the English language between the OARSI congresses of 2022 and 2023.
A total of 2178 research articles were identified, which subsequently reduced to 67 unique articles relevant to the field. Current trends in osteoarthritis genetics research involve meta-analyses of various cohorts to explore the impact of gene variants on osteoarthritis-related outcomes, such as pain. Early developmental changes within the joint were also found to influence osteoarthritis through genetic variations. Researchers also prioritize testing the mechanisms and functions of miRNAs, circRNAs, and lncRNAs. Potential drug targets began to emerge; however, independent validation studies are lacking. Single cell RNA sequencing studies revealed unique immune cell populations in the knee; however, no study reported single nucleus RNA sequencing analysis.
This review focused on recent advances in the above-mentioned themes within the field of osteoarthritis. These advances improve our understanding of the disease's complexity and guide us toward functional assessments of genetic/epigenetic outcomes and toward their translational and clinical applications.
阐明过去12个月在骨关节炎遗传学、基因组学和表观遗传学领域取得的科学进展。本综述文章重点介绍了一些重要的研究出版物，这些出版物加深了我们目前对遗传学、基因组学和表观遗传学在骨关节炎中作用的理解。
于2023年3月17日在pubmed.ncbi.nlm.nih.gov上进行了系统的文献检索，使用了以下关键词：“骨关节炎”与以下任何术语组合：“遗传”、“突变”、“基因组”、“表观遗传”、“DNA甲基化”、“非编码RNA”、“长链非编码RNA”、“环状RNA”、“微小RNA”、“转录组”、“RNA测序”、“单细胞RNA测序”或“单核RNA测序”。入选的是2022年至2023年骨关节炎研究学会（OARSI）大会期间发表的英文原创研究文章。
共识别出2178篇研究文章，随后减少到67篇与该领域相关的独特文章。骨关节炎遗传学研究的当前趋势包括对各种队列进行荟萃分析，以探索基因变异对骨关节炎相关结局（如疼痛）的影响。还发现关节内的早期发育变化通过基因变异影响骨关节炎。研究人员还将重点放在测试微小RNA、环状RNA和长链非编码RNA的机制和功能上。潜在的药物靶点开始出现；然而，缺乏独立的验证研究。单细胞RNA测序研究揭示了膝关节中独特的免疫细胞群体；然而，没有研究报告单核RNA测序分析。
本综述聚焦于骨关节炎领域上述主题的最新进展。这些进展增进了我们对该疾病复杂性的理解，并指导我们对遗传/表观遗传结局进行功能评估，以及将其转化应用于临床。
