Association between vitamin D receptor gene haplotypes and bone mass in postmenopausal Korean women

Objectives The objective of the study was to evaluate the effect of vitamin D receptor (VDR) gene haplotypes on bone mineral density (BMD). Study design The VDR Bsm I, Apa I, Taq I, and poly(A) polymorphisms were analyzed in 417 postmenopausal Korean women. Serum 1,25(OH)2 vitamin D3, osteocalcin, bone alkaline phosphatase, and CrossLaps were measured by immunoradiometric assay and enzyme-linked immunosorbent assay. BMD at the lumbar spine and proximal femur was determined by dual-energy x-ray absorptiometry. Results At all skeletal sites, genotypes not carrying the baTL haplotype allele (uppercase letters signifying the absence, lowercase letters the presence, of the restriction site, and L a repeat length of more than 17) had significantly lower BMD than baTL homozygotes. The former genotypes were more prevalent in women with low bone mass than in healthy women. No significant differences in vitamin D3 or bone markers levels were noted among the baTL haplotype genotypes. Conclusion The VDR baTL haplotype allele is related to bone mass in Korean women.