4.8 Article

Joint disease-specificity at the regulatory base-pair level

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Review Endocrinology & Metabolism

The Genetic Epidemiology of Joint Shape and the Development of Osteoarthritis

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Summary: The importance of congruent, low-friction relative movement between the articulating elements of a synovial joint for sustained, efficient function is emphasized. Disorders of joint formation or maintenance can lead to mechanical overloading and osteoarthritis, with a heritable component accounting for 50% of OA risk. Despite the identification of nearly 100 genetic risk loci for OA, there is still limited understanding of the contribution of genetic variation to joint shape and its modulation of OA risk.

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