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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)
Verlagsversion DOI PMC
Open Access Hybrid
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Review
Schlagwörter Genomics ; Osteoarthritis ; Proteomics ; Transcriptomics; Hip Articular-cartilage; Wide Dna Methylation; Knee Osteoarthritis; Rna-seq; Studies Identify; Common Variants; Reveals; Identification; Regeneration; Polymorphism
Sprache englisch
Veröffentlichungsjahr 2024
HGF-Berichtsjahr 2024
ISSN (print) / ISBN 1527-8204
e-ISSN 1545-293X
Zeitschrift Annual Review of Genomics and Human Genetics
Quellenangaben Band: 25, Heft: 1, Seiten: 239-257 Artikelnummer: , Supplement: ,
Verlag Annual Reviews
Verlagsort 4139 El Camino Way, Po Box 10139, Palo Alto, Ca 94303-0139 Usa
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Translational Genomics (ITG)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
Enabling and Novel Technologies
PSP-Element(e) G-506700-001
G-506701-001
Förderungen European Union
Chinese Scholarship Council
DOI 10.1146/annurev-genom-010423-095636
WOS ID 001300464900011
Scopus ID 85202727285
PubMed ID 39190913
Erfassungsdatum 2024-10-07
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