Published February 25, 2024 | Version Artilcle in Press
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Evolution and advancements in genomics and epigenomics in OA research: How far we have come

Description

"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."

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Additional details

Funding

European Commission
AutoCRAT - Automated Cellular Robot-Assisted Technologies for translation of discovery-led research in Osteoarthritis 874671