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.

中文翻译：

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关节形状的遗传流行病学和骨关节炎的发展。

滑膜关节的关节元件之间一致的、低摩擦的相对运动是持续、高效、功能的必要先决条件。在存在关节形成或维持障碍的情况下，随之而来的是机械过载和骨关节炎 (OA)。OA 的可遗传成分占易感风险的 50%。尽管现在已经确定了近 100 个 OA 遗传风险位点，并且关节发育、关节形状和骨关节炎之间的流行病学关系已经确立，但我们对遗传变异对关节形状的贡献以及它如何调节的了解仍然有限OA 风险。在本文中，对滑膜关节发育及其遗传调控的简要概述之后，回顾了有关已确定关节形状障碍和常见形状变异的遗传流行病学的当前知识。还总结了当前 OA 的遗传流行病学，以及有关形状变异和 OA 之间遗传重叠的当前证据。最后，讨论了关节形状和骨关节炎的已建立遗传风险位点。