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Vitamin D receptor alleles and bone physiology
C P White1, N A Morrison, E M Gardiner
1Bone and Mineral Research Division, Garvan Institute of Medical Research, St. Vincent's Hospital, Darlinghurst, New South Wales, Australia.
Journal of Cellular Biochemistry
|November 1, 1994
Summary
Genetic variations in the vitamin D receptor influence bone density. This finding suggests that gene polymorphisms may explain normal physiological variations in the general population.
Area of Science:
- Endocrinology
- Genetics
- Bone Biology
Background:
- The vitamin D endocrine system regulates calcium and bone homeostasis.
- 1,25 dihydroxyvitamin D (calcitriol) is the active form, acting via a specific receptor.
- Gene polymorphisms can impact physiological regulation.
Purpose of the Study:
- To investigate the role of vitamin D receptor gene polymorphisms in bone density.
- To explore the implications of genetic variations in homeostatically controlled systems.
Main Methods:
- Analysis of vitamin D receptor gene polymorphisms.
- Correlation of genotypes with bone density measurements.
Main Results:
- Vitamin D receptor gene polymorphisms were found to predict bone density.
- This represents the first example of an allelic effect in a homeostatically controlled system.
Conclusions:
- Genetic variations in the vitamin D receptor can significantly influence bone density.
- Such genetic factors may contribute to the wide distribution of physiological parameters in the population.