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Vitamin D receptor alleles and bone physiology
Author(s) -
White C. P.,
Morrison N. A.,
Gardiner E. M.,
Eisman J. A.
Publication year - 1994
Publication title -
journal of cellular biochemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.028
H-Index - 165
eISSN - 1097-4644
pISSN - 0730-2312
DOI - 10.1002/jcb.240560306
Subject(s) - calcitriol receptor , vitamin d and neurology , biology , transactivation , endocrinology , calcitriol , receptor , allele , medicine , homeostasis , population , gene , genetics , gene expression , environmental health
The vitamin D endocrine system is central to the control of bone and calcium homeostasis. The active hormonal aform 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 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 expllain a large part of the observed “ormal” population distribution that exists for all physiological paraameters.