Abstract
SummaryObjectiveIn this review, we have highlighted the advances over the past year in genetics, genomics and epigenetics in the field of osteoarthritis (OA).MethodsA 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.ResultsIn 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.ConclusionsThis 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.
Highlights
Osteoarthritis (OA) is the most prevalent musculoskeletal disease. The goal of this narrative review is to highlight key research studies published in OA genetics, genomics and epigenetics between April 1st 2020 and April 30th 2021
Using the defined search criteria we identified 765 articles, which when manually curated decreased to 380 deemed of relevance to the OA field (Supplementary File 1), many of which were identified by multiple search terms (Fig. 1)
Recent compelling data, including a study discussed in last year's review[6], suggests that the OA-risk mediated by the GDF locus could be via the control of the growth factor expression by highly conserved distal regulatory elements, with comprehensive work characterizing the effects of the rs6060369 polymorphism in mouse knee cartilage and OA-development[7]
Summary
Osteoarthritis (OA) is the most prevalent musculoskeletal disease. The goal of this narrative review is to highlight key research studies published in OA genetics, genomics and epigenetics between April 1st 2020 and April 30th 2021. Recent compelling data, including a study discussed in last year's review[6], suggests that the OA-risk mediated by the GDF locus could be via the control of the growth factor expression by highly conserved distal regulatory elements, with comprehensive work characterizing the effects of the rs6060369 polymorphism in mouse knee cartilage and OA-development[7].
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