Journal of Bone and Mineral Metabolism

, Volume 27, Issue 5, pp 562–566

Bone mass effects of a Smad6 gene polymorphism in Japanese postmenopausal women

  • Tomohiko Urano
  • Masataka Shiraki
  • Takahiko Usui
  • Noriko Sasaki
  • Yasuyoshi Ouchi
  • Satoshi Inoue
Original Article

DOI: 10.1007/s00774-009-0068-4

Cite this article as:
Urano, T., Shiraki, M., Usui, T. et al. J Bone Miner Metab (2009) 27: 562. doi:10.1007/s00774-009-0068-4

Abstract

Smad6 plays pivotal roles in the negative regulation of transforming growth factor β (TGFβ) family signaling as one of the feedback molecules. Here, we analyzed whether the human Smad6 gene is involved in the regulation of bone mass, using association analysis between bone mineral density (BMD) and single-nucleotide polymorphism (SNP) in the Smad6 gene. Association of an SNP at IVS3+26115A>C (intron 3, rs755451) in the Smad6 gene with BMD was examined in 721 Japanese postmenopausal Japanese women (age 65.2 ± 9.6 years; mean ± SD). The subjects bearing at least one variant C allele (CC ± AC; n = 387) had significantly lower Z-scores for total body and lumbar BMD than the subjects with no C allele (AA; n = 334) (total body, 0.23 ± 0.98 versus 0.50 ± 1.07; P = 0.0004; lumbar spine, −0.20 ± 1.38 versus 0.10 ± 1.48; P = 0.0050). These findings suggest that the Smad6 gene is a candidate for the genetic determinants of BMD in postmenopausal women, and this SNP could be useful as a genetic marker for predicting the risk of osteoporosis.

Keywords

Single-nucleotide polymorphismOsteoporosisBone mineral densitySmad6Transforming growth factor β family

Copyright information

© The Japanese Society for Bone and Mineral Research and Springer 2009

Authors and Affiliations

  • Tomohiko Urano
    • 1
    • 2
  • Masataka Shiraki
    • 3
  • Takahiko Usui
    • 1
    • 2
  • Noriko Sasaki
    • 1
    • 2
  • Yasuyoshi Ouchi
    • 1
  • Satoshi Inoue
    • 1
    • 2
    • 4
  1. 1.Department of Geriatric Medicine, Graduate School of MedicineThe University of TokyoTokyoJapan
  2. 2.Department of Anti-Aging Medicine, Graduate School of MedicineUniversity of TokyoTokyoJapan
  3. 3.Research Institute and Practice for Involutional DiseasesNaganoJapan
  4. 4.Research Center for Genomic MedicineSaitama Medical SchoolSaitamaJapan