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Vitamin D receptor alleles and bone physiology


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.

Type Journal
ISBN 0730-2312 (Print)
Authors White, C. P.;Morrison, N. A.;Gardiner, E. M.;Eisman, J. A. :
Published Date 1994-01-01
Published Volume 56
Published Issue 3
Published Pages 307-14
Status Published in-print
URL link to publisher's version