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Evolution and advancements in genomics and epigenomics in OA research: How far we have come

Lookup NU author(s): Dr Sarah RiceORCiD

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Abstract

© 2024 Osteoarthritis Research Society InternationalObjective: Osteoarthritis (OA) is the most prevalent musculoskeletal disease affecting articulating joint tissues, resulting in local and systemic changes that contribute to increased pain and reduced function. Diverse technological advancements have culminated in the advent of high throughput “omic” technologies, enabling identification of comprehensive changes in molecular mediators associated with the disease. Amongst these technologies, genomics and epigenomics – including methylomics and miRNomics, have emerged as important tools to aid our biological understanding of disease. Design: In this narrative review, we selected articles discussing advancements and applications of these technologies to OA biology and pathology. We discuss how genomics, deoxyribonucleic acid (DNA) methylomics, and miRNomics have uncovered disease-related molecular markers in the local and systemic tissues or fluids of OA patients. Results: Genomics investigations into the genetic links of OA, including using genome-wide association studies, have evolved to identify 100+ genetic susceptibility markers of OA. Epigenomic investigations of gene methylation status have identified the importance of methylation to OA-related catabolic gene expression. Furthermore, miRNomic studies have identified key microRNA signatures in various tissues and fluids related to OA disease. Conclusions: Sharing of standardized, well-annotated omic datasets in curated repositories will be key to enhancing statistical power to detect smaller and targetable changes in the biological signatures underlying OA pathogenesis. Additionally, continued technological developments and analysis methods, including using computational molecular and regulatory networks, are likely to facilitate improved detection of disease-relevant targets, in-turn, supporting precision medicine approaches and new treatment strategies for OA.


Publication metadata

Author(s): Ramos YFM, Rice SJ, Ali SA, Pastrello C, Jurisica I, Rai MF, Collins KH, Lang A, Maerz T, Geurts J, Ruiz-Romero C, June RK, Thomas Appleton C, Rockel JS, Kapoor M

Publication type: Review

Publication status: Published

Journal: Osteoarthritis and Cartilage

Year: 2024

Volume: 32

Issue: 7

Pages: 858-868

Print publication date: 07/07/2024

Online publication date: 28/02/2024

Acceptance date: 25/02/2024

ISSN (print): 1063-4584

ISSN (electronic): 1522-9653

Publisher: W.B. Saunders Ltd

URL: https://doi.org/10.1016/j.joca.2024.02.656

DOI: 10.1016/j.joca.2024.02.656

PubMed id: 38428513


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