Extracellular genomic biomarkers of osteoarthritis

ABSTRACT

Introduction: Osteoarthritis (OA), a chronic, debilitating and degenerative disease of the joints, is the most common form of arthritis. The seriousness of this prevalent and chronic disease is often overlooked. Disease modifying OA drug development is hindered by the lack of soluble biomarkers to detect OA early. The objective of OA biomarker research is to identify early OA prior to the appearance of radiographic signs and the development of pain.

Areas covered: This review has focused on extracellular genomic material that could serve as biomarkers of OA. Recent studies have examined the expression of extracellular genomic material such as miRNA, lncRNA, snoRNA, mRNA and cell-free DNA, which are aberrantly expressed in the body fluids of OA patients. Changes in genomic content of peripheral blood mononuclear cells in OA could also function as biomarkers of OA.

Expert commentary: There is an unmet need for soluble biomarkers for detecting and then monitoring OA disease progression. Extracellular genomic material research may also reveal more about the underlying pathophysiology of OA. Minimally-invasive liquid biopsies such as synovial fluid and blood sampling of genomic material may be more sensitive over radiography in the detection, diagnosis and monitoring of OA in the future.

KEYWORDS:

• Osteoarthritis
• extracellular
• genomic biomarkers
• body fluids
• liquid biopsy
• ncRNA
• miRNA
• cfDNA
• mRNA
• extracellular nucleic acid carriers

Authors’ contributions

E Budd conceived, drafted and edited the manuscript. G Nalesso edited and approved the submission. A Mobasheri edited and approved the submission. All authors contributed to data interpretation and manuscript preparation and approved the final version submitted.

Declaration of interest

A Mobasheri is coordinator of the D-BOARD Consortium funded by the European Commission Framework 7 programme (EU FP7; HEALTH.2012.2.4.5-2, project number 305815; Novel Diagnostics and Biomarkers for Early Identification of Chronic Inflammatory Joint Diseases) and member of the Arthritis Research UK Centre for Sport, Exercise, and Osteoarthritis, funded by Arthritis Research UK (grant reference numbers: 20194 and 21595). A.M. is a member of the Applied Public-Private Research enabling OsteoArthritis Clinical Headway (APPROACH) consortium, a 5-year project funded by the European Commission’s Innovative Medicines Initiative. APPROACH is a public-private partnership directed towards osteoarthritis biomarker development through the establishment of a heavily phenotyped and comprehensively analysed longitudinal cohort. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

The research leading to these results was funded by the European Commission Framework 7 programme (EU FP7; HEALTH.2012.2.4.5-2, project number 305815; Novel Diagnostics and Biomarkers for Early Identification of Chronic Inflammatory Joint Diseases). This project has also received partial support from the Innovative Medicines Initiative Joint Undertaking under grant agreement No. 115770, resources of which are composed of financial contribution from the European Union’s Seventh Framework programme (FP7/2007-2013) and EFPIA companies’ in-kind contribution. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.