White C P, Morrison N A, Gardiner E M, Eisman J A
Bone and Mineral Research Division, Garvan Institute of Medical Research, St. Vincent's Hospital, Darlinghurst, New South Wales, Australia.
J Cell Biochem. 1994 Nov;56(3):307-14. doi: 10.1002/jcb.240560306.
The vitamin D endocrine system is central to the control of bone and calcium homeostasis. The active hormonal form of vitamin D, 1,25 dihydroxyvitamin D (calcitriol), the circulating level of which is tightly regulated, acts through a specific receptor to mediate its genomic actions on almost every aspect of calcium homeostasis. Because of its transactivation function, it is possible that a small difference in vitamin D receptor level could be amplified into a biologically significant alteration in physiological setpoint. The recent finding that polymorphisms in the vitamin D receptor gene are predictive of bone density (Morrison et al., Nature 367:284-287, 1994) is the first example of an allelic effect in such a homeostatically controlled system. This raises the possibility that such central operators may exist in other regulatory pathways, and could explain a large part of the observed "normal" population distribution that exists for all physiological parameters.
维生素D内分泌系统对于骨骼和钙稳态的控制至关重要。维生素D的活性激素形式，即1,25-二羟维生素D（骨化三醇），其循环水平受到严格调节，它通过特定受体发挥作用，介导其对钙稳态几乎各个方面的基因组作用。由于其反式激活功能，维生素D受体水平的微小差异有可能被放大为生理设定点上具有生物学意义的改变。最近发现维生素D受体基因多态性可预测骨密度（莫里森等人，《自然》367:284 - 287, 1994），这是在这样一个稳态控制系统中出现等位基因效应的首个例子。这增加了一种可能性，即这种核心调控因子可能存在于其他调节途径中，并且可以解释所有生理参数所观察到的“正常”人群分布的很大一部分。
