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Arruda, A.L. ; Katsoula, G. ; Chen, S. ; Reimann, E. ; Kreitmaier, P. ; Zeggini, E.

The genetics and functional genomics of osteoarthritis.

Annu. Rev. Genomics Hum. Genet. 25, 239-257 (2024)
Publ. Version/Full Text DOI PMC
Open Access Gold (Paid Option)
Creative Commons Lizenzvertrag
Osteoarthritis is the most prevalent whole-joint degenerative disorder, and is characterized by the degradation of articular cartilage and the underlying bone structures. Almost 600 million people are affected by osteoarthritis worldwide. No curative treatments are available, and management strategies focus mostly on pain relief. Here, we provide a comprehensive overview of the available human genetic and functional genomics studies for osteoarthritis to date and delineate how these studies have helped shed light on disease etiopathology. We highlight genetic discoveries from genome-wide association studies and provide a detailed overview of molecular-level investigations in osteoarthritis tissues, including methylation-, transcriptomics-, and proteomics-level analyses. We review how functional genomics data from different molecular levels have helped to prioritize effector genes that can be used as drug targets or drug-repurposing opportunities. Finally, we discuss future directions with the potential to drive a step change in osteoarthritis research.
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Publication type Article: Journal article
Document type Review
Corresponding Author
Keywords Genomics ; Osteoarthritis ; Proteomics ; Transcriptomics; Hip Articular-cartilage; Wide Dna Methylation; Knee Osteoarthritis; Rna-seq; Studies Identify; Common Variants; Reveals; Identification; Regeneration; Polymorphism
ISSN (print) / ISBN 1527-8204
e-ISSN 1545-293X
Journal Annual Review of Genomics and Human Genetics
Quellenangaben Volume: 25, Issue: 1, Pages: 239-257 Article Number: , Supplement: ,
Publisher Annual Reviews
Publishing Place 4139 El Camino Way, Po Box 10139, Palo Alto, Ca 94303-0139 Usa
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Translational Genomics (ITG)
Grants European Union
Chinese Scholarship Council