Rapid Communication

Calcified Tissue International

, Volume 57, Issue 2, pp 161-162

First online:

Vitamin D receptor gene polymorphism, bone mass, body size, and vitamin D receptor density

  • M. J. Barger-LuxAffiliated withOsteoporosis Research Center, Creighton University
  • , R. P. HeaneyAffiliated withOsteoporosis Research Center, Creighton University
  • , J. HayesAffiliated withGarvan Institute of Medical Research
  • , H. F. DeLucaAffiliated withDepartment of Biochemistry, University of Wisconsin
  • , M. L. JohnsonAffiliated withOsteoporosis Research Center, Creighton University
  • , G. GongAffiliated withOsteoporosis Research Center, Creighton University

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We determined vitamin D receptor (VDR) gene alleles (based on the BsmI restriction site polymorphism), duodenal mucosal receptor density, bone mass at spine and total body, and body size in 32 healthy premenopausal females. While we found no relationship between allele and receptor density in duodenal mucosa, bone mineral content (BMC) at both spine and total body was significantly associated with VDR gene alleles. BMC was highest for the bb allele, lowest for BB, and intermediate for Bb. A similar association was noted between allele and body size variables, particularly weight. When BMC was adjusted for body weight, the association with VDR polymorphism disappeared. The VDR gene polymorphism may be affecting bone mass not through classical nutritional mechanisms (e.g., intestinal calcium absorption), but through an influence on body size.

Key words

Bone mass Vitamin D receptor Body size VDR gene polymorphism