Original Article

Journal of Bone and Mineral Metabolism

, Volume 27, Issue 5, pp 562-566

First online:

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

  • Tomohiko UranoAffiliated withDepartment of Geriatric Medicine, Graduate School of Medicine, The University of TokyoDepartment of Anti-Aging Medicine, Graduate School of Medicine, University of Tokyo
  • , Masataka ShirakiAffiliated withResearch Institute and Practice for Involutional Diseases
  • , Takahiko UsuiAffiliated withDepartment of Geriatric Medicine, Graduate School of Medicine, The University of TokyoDepartment of Anti-Aging Medicine, Graduate School of Medicine, University of Tokyo
  • , Noriko SasakiAffiliated withDepartment of Geriatric Medicine, Graduate School of Medicine, The University of TokyoDepartment of Anti-Aging Medicine, Graduate School of Medicine, University of Tokyo
  • , Yasuyoshi OuchiAffiliated withDepartment of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo
  • , Satoshi InoueAffiliated withDepartment of Geriatric Medicine, Graduate School of Medicine, The University of TokyoDepartment of Anti-Aging Medicine, Graduate School of Medicine, University of TokyoResearch Center for Genomic Medicine, Saitama Medical School Email author 

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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 polymorphism Osteoporosis Bone mineral density Smad6 Transforming growth factor β family