Osteoporosis International

, Volume 12, Issue 12, pp 1036–1041

Relation of BsmI Vitamin D Receptor Gene Polymorphism to Bone Mineral Density and Occurrence of Osteoporosis in Postmenopausal Chinese Women in Taiwan

  • H.-Y. ChenChen
  • W.-C. Chen
  • W.-C. Chen
  • F.-J. Tsai
  • C.-H. Tsai
  • C.-W. Li
Original Article

DOI: 10.1007/s001980170014

Cite this article as:
ChenChen, HY., Chen, WC., Chen, WC. et al. Osteoporos Int (2001) 12: 1036. doi:10.1007/s001980170014

Abstract:

Osteoporosis is a common disorder with a strong genetic component. Our aim was to evaluate the correlation of the vitamin D receptor gene intron 8 BsmI polymorphism with bone mineral density (BMD) and their relationship to osteoporosis. We determined the vitamin D receptor gene intron 8 BsmI polymorphism using polymerase chain reaction-based restriction analysis in 171 postmenopausal Chinese women in Taiwan. The polymorphism was detected using the restriction enzyme BsmI, where the B allele indicated absence of the cuttable site and the b allele its presence. BMD of the lumbar spine and proximal femur were measured using dual-energy X-ray absorptiometry. The allelic frequencies for postmenopausal Chinese women in Taiwan were 12.3% for B and 87.7% for b in BsmI restriction fragment length polymorphisms. The prevalence of each genotype in the study population was: 6.4% BB, 11.7% Bb and 81.9% bb. The three genotypic groups differed significantly in BMD at the lumbar spine and the femoral neck. These differences corresponded to significant gene-dose effects at the lumbar spine and femoral neck (p<0.001 for both sites). The relative risk for the development of osteoporosis was about 2–3 times as great as that predicted by the differences between genotypes in BMD, and remained significant even after adjustment for age, height and weight. The vitamin D receptor gene intron 8 BsmI polymorphism is associated with reduced BMD and predisposes women to osteoporosis.

Key words:Bone mineral density – Osteoporosis – Polymerase chain reaction-based restriction analysis – Vitamin D receptor gene intron 8 BsmI polymorphism

Copyright information

© International Osteoporosis Foundation and National Osteoporosis Foundation 2001

Authors and Affiliations

  • H.-Y. ChenChen
    • 1
  • W.-C. Chen
    • 2
  • W.-C. Chen
    • 5
  • F.-J. Tsai
    • 3
  • C.-H. Tsai
    • 4
  • C.-W. Li
    • 5
  1. 1.Department of Obstetrics and GynecologyTW
  2. 2.Department of UrologyTW
  3. 3.Department of Medical GeneticsTW
  4. 4.Department of Pediatrics, China Medical College Hospital, School of Medicine, China Medical College, Taichung;TW
  5. 5.Department of Life Science, National Tsing Hua University, Hsinchu, TaiwanTW