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Osteoarthritis year in review: genetics, genomics, epigenetics

Lookup NU author(s): Professor David YoungORCiD, Dr Matthew Barter, Dr Jamie Soul


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© 2021 The Author(s). Objective: In this review, we have highlighted the advances over the past year in genetics, genomics and epigenetics in the field of osteoarthritis (OA). Methods: 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. Results: 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. Conclusions: 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.

Publication metadata

Author(s): Young DA, Barter MJ, Soul J

Publication type: Review

Publication status: Published

Journal: Osteoarthritis and Cartilage

Year: 2022

Volume: 30

Issue: 2

Pages: 216-225

Print publication date: 01/02/2022

Online publication date: 11/11/2021

Acceptance date: 02/11/2021

ISSN (print): 1063-4584

ISSN (electronic): 1522-9653

Publisher: W.B. Saunders Ltd


DOI: 10.1016/j.joca.2021.11.004