Association of the vitamin D receptor start codon polymorphism (FokI) with bone mineral density in postmenopausal Korean women

J Hum Genet. 2000;45(5):280-3. doi: 10.1007/s100380070016.


We undertook this study in order to examine the association between bone mineral density (BMD) and a polymorphism at the first of two potential translation initiation codons in the vitamin D receptor (VDR) gene. This polymorphism was detected by restriction fragment length polymorphism analysis, using polymerase chain reaction (PCR) and the restriction endonuclease FokI. The f allele indicates the presence of the FokI site, and the F allele its absence. The FokI genotype was determined in 174 postmenopausal Korean women, aged 43-71 years. The distribution of FokI genotypes in Koreans was found not to differ significantly from those found in Caucasians and Japanese, although it does differ significantly from that found in the black American population. We observed a significant association between the FokI polymorphism and lumbar BMD; P = 0.048, analysis of covariance [ANCOVA], but no association with femoral neck BMD (P = 0.505, ANCOVA). Those with the ff genotype had a 13.3% lower BMD in the lumbar spine than the FF subjects. In addition, a significantly higher prevalence of the ff genotype was observed in osteoporotic compared with osteopenic or normal women (P = 0.036, chi2 test). These data suggest that the ff genotype of the VDR gene correlates with decreased BMD in the lumbar spine in postmenopausal Korean women.

MeSH terms

  • Base Sequence
  • Bone Density / genetics*
  • Codon, Initiator*
  • DNA Primers
  • Deoxyribonucleases, Type II Site-Specific / genetics
  • Female
  • Humans
  • Korea
  • Middle Aged
  • Polymorphism, Genetic*
  • Postmenopause*
  • Receptors, Calcitriol / genetics*


  • Codon, Initiator
  • DNA Primers
  • Receptors, Calcitriol
  • endodeoxyribonuclease FokI
  • Deoxyribonucleases, Type II Site-Specific