Translating genomics into mechanisms of disease: Osteoarthritis

Nils Bomer; Wouter den Hollander; Yolande F M Ramos; Ingrid Meulenbelt

doi:10.1016/j.berh.2016.01.001

Translating genomics into mechanisms of disease: Osteoarthritis

Best Pract Res Clin Rheumatol. 2015 Dec;29(6):683-91. doi: 10.1016/j.berh.2016.01.001. Epub 2016 Mar 4.

Authors

Nils Bomer¹, Wouter den Hollander², Yolande F M Ramos³, Ingrid Meulenbelt⁴

Affiliations

¹ Dept. Medical Statistics and Bioinformatics, Section Molecular Epidemiology, Leiden University Medical Centre, LUMC Post-zone S-05-P, P.O. Box 9600, 2300 RC Leiden, The Netherlands. Electronic address: n.bomer@lumc.nl.
² Dept. Medical Statistics and Bioinformatics, Section Molecular Epidemiology, Leiden University Medical Centre, LUMC Post-zone S-05-P, P.O. Box 9600, 2300 RC Leiden, The Netherlands. Electronic address: W.den_Hollander.MOLEPI@lumc.nl.
³ Dept. Medical Statistics and Bioinformatics, Section Molecular Epidemiology, Leiden University Medical Centre, LUMC Post-zone S-05-P, P.O. Box 9600, 2300 RC Leiden, The Netherlands. Electronic address: Y.F.M.Ramos@lumc.nl.
⁴ Dept. Medical Statistics and Bioinformatics, Section Molecular Epidemiology, Leiden University Medical Centre, LUMC Post-zone S-05-P, P.O. Box 9600, 2300 RC Leiden, The Netherlands. Electronic address: i.meulenbelt@lumc.nl.

PMID: 27107506
DOI: 10.1016/j.berh.2016.01.001

Abstract

Osteoarthritis (OA) is the most common age-related arthritic disorder and is characterized by aberrant extracellular matrix (ECM) content and surface disruptions that range from fibrillation, clefting and delamination, leading to articular surface erosion. Worldwide, over 20% of the population is affected with OA and 80% of these patients have limitations in movement, whereas 25% experience inhibition in major daily activities of life. OA is the most common disabling arthritic disease; nevertheless, no disease-modifying treatment is available except for the expensive total joint replacement surgery at end-stage disease. Lack of insight into the underlying pathophysiological mechanisms of OA has considerably contributed to the inability of the scientific community to develop disease-modifying drugs. To overcome this critical barrier, focus should be on translation of identified robust gene deviations towards the underlying biological mechanisms.

Keywords: DIO2 gene; Functional studies; Genomic profiling; Mechanisms; Osteoarthritis; Thyroid signalling.

Publication types

Review

MeSH terms

Cartilage, Articular / physiopathology*
Genomics*
Humans
Osteoarthritis / genetics
Osteoarthritis / physiopathology*