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.
|Authors||White, C. P.;Morrison, N. A.;Gardiner, E. M.;Eisman, J. A. :|
|Publisher Name||JOURNAL OF CELLULAR BIOCHEMISTRY|
|URL link to publisher's version||http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=7876323|
|OpenAccess link to author's accepted manuscript version||https://publications.gimr.garvan.org.au/open-access/891|