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Wilkinson, J.M.* ; Zeggini, E.

The genetic epidemiology of joint shape and the development of osteoarthritis.

Calcif. Tissue Int. 109, 257-276 (2020)
Publ. Version/Full Text Postprint DOI PMC
Open Access Gold (Paid Option)
Creative Commons Lizenzvertrag
Congruent, low-friction relative movement between the articulating elements of a synovial joint is an essential pre-requisite for sustained, efficient, function. Where disorders of joint formation or maintenance exist, mechanical overloading and osteoarthritis (OA) follow. The heritable component of OA accounts for 50% of susceptible risk. Although almost 100 genetic risk loci for OA have now been identified, and the epidemiological relationship between joint development, joint shape and osteoarthritis is well established, we still have only a limited understanding of the contribution that genetic variation makes to joint shape and how this modulates OA risk. In this article, a brief overview of synovial joint development and its genetic regulation is followed by a review of current knowledge on the genetic epidemiology of established joint shape disorders and common shape variation. A summary of current genetic epidemiology of OA is also given, together with current evidence on the genetic overlap between shape variation and OA. Finally, the established genetic risk loci for both joint shape and osteoarthritis are discussed.
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Publication type Article: Journal article
Document type Review
Corresponding Author
Keywords Genetics ; Epidemiology ; Joint Development ; Joint Shape ; Osteoarthritis; Single Nucleotide Polymorphism; Genome-wide Association; Femoroacetabular Impingement Syndrome; Nationwide Prospective Cohort; Capital Femoral Epiphysis; Statistical Shape; Hip Osteoarthritis; Acetabular Dysplasia; Common Variants; Proximal Femur
ISSN (print) / ISBN 0171-967X
e-ISSN 1432-0827
Journal Calcified Tissue International
Quellenangaben Volume: 109, Issue: 3, Pages: 257-276 Article Number: , Supplement: ,
Publisher Springer
Publishing Place One New York Plaza, Suite 4600, New York, Ny, United States
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Translational Genomics (ITG)