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Calcified Tissue International
Published in: Calcified Tissue International 3/2021

Open Access 01-09-2021 | Osteoarthrosis | Review

The Genetic Epidemiology of Joint Shape and the Development of Osteoarthritis

Authors: J. Mark Wilkinson, Eleftheria Zeggini

Published in: Calcified Tissue International | Issue 3/2021

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Abstract

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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Metadata
Title
The Genetic Epidemiology of Joint Shape and the Development of Osteoarthritis
Authors
J. Mark Wilkinson
Eleftheria Zeggini
Publication date
01-09-2021
Publisher
Springer US
Published in
Calcified Tissue International / Issue 3/2021
Print ISSN: 0171-967X
Electronic ISSN: 1432-0827
DOI
https://doi.org/10.1007/s00223-020-00702-6

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