Vitamin D receptor gene polymorphisms modulate the skeletal response to vitamin D supplementation in healthy girls

Bone. 2009 Dec;45(6):1091-7. doi: 10.1016/j.bone.2009.07.074. Epub 2009 Jul 30.


Objectives: Vitamin D receptor (VDR) gene plays an important role in bone mass regulation. We have previously shown a beneficial effect of vitamin D supplementation on bone mass in girls. This study investigated whether the musculo-skeletal response to Vitamin D was modulated by polymorphisms in VDR gene.

Design: Randomized placebo-controlled trial.

Methods: 179 girls (10-17 years), were randomly assigned to placebo or Vitamin D3 for one year. VDR genotypes were determined in 167 girls using BsmI, TaqI and ApaI restriction enzymes. Bone mass at the spine, hip, forearm and total body, and lean mass were measured by DXA at baseline and at one year.

Results: After one year, VDR gene polymorphisms using Bsm1 and TaqI restriction enzymes were associated with percent changes in bone area, BMC and BMD at multiple skeletal sites in the Vitamin D3 group but not in the placebo group. The least increments were observed in the BB and tt genotypes. No similar effect was observed with ApaI enzyme. This relationship between VDR genotypes and changes in BMD and BMC remained significant after adjustment for puberty, changes in lean mass, height and bone area.

Conclusion: VDR gene polymorphisms influence the skeletal response to vitamin D supplementation in healthy adolescent girls.

Publication types

  • Randomized Controlled Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Anthropometry
  • Bone Density / drug effects
  • Bone and Bones / drug effects*
  • Bone and Bones / physiology*
  • Child
  • Cholecalciferol / administration & dosage
  • Cholecalciferol / pharmacology*
  • Dietary Supplements*
  • Dose-Response Relationship, Drug
  • Female
  • Genotype
  • Health*
  • Humans
  • Multivariate Analysis
  • Placebos
  • Polymorphism, Single Nucleotide / genetics*
  • Receptors, Calcitriol / genetics*


  • Placebos
  • Receptors, Calcitriol
  • Cholecalciferol