What is the story about VDR mutations and how they affect an individual?Updated a month ago

VDR (Vitamin D Receptor) does not code for an enzyme, but rather a nuclear transcription regulating factor which triggers proteins involved in bone mineral homeostasis and is a crucial mediator of Vitamin D on cell regulation and metabolism.

The influence of VDR mutations on signaling and cell regulation is still not well understood, and research is contradictory. It is theorized that VDR mutations may influence disease risk from diabetes and osteoporosis to various cancers, but research is equivocal across populations. This may be due to failure to control for the underlying complexities in VDR polymorphisms and the resulting haplotypes. Gene-environment interactions (e.g.: 25(OH) Vit D, Vit A, Calcium and UV exposure) and/or Taq1, Bsm1, and other mutations along the Vitamin D metabolism pathway also play important roles in modifying disease risk.

The following factors influence the regulation of VDR expression:

Increase/upregulaton: 1,25-hydroxyvitamin D (1,25-D), calcitriol and paricalcitol, lithocholate (a secondary bile acid).

Decrease/downregulation: Glucocorticoids; 25 (OH) Vit D; and B. burgdorferi, M. tuberculosis and M. leprase and other biofilm producing bacteria.