Association of TWIST1 gene polymorphisms with bone mineral density in postmenopausal women

J. Y. Hwang, S. Y. Kim, S. H. Lee, G. S. Kim, M. J. Go, S. E. Kim, H. C. Kim, H. D. Shin, B. L. Park, T. H. Kim, J. M. Hong, E. K. Park, H. L. Kim, J. Y. Lee, J. M. Koh

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

Abstract

A novel polymorphism (+1871A>G) in the 3′ flanking region and haplotypes were significantly associated with reduced osteoporosis risk and enhanced bone mineral density (BMD). These results suggest that TWIST1 may be a useful genetic marker for osteoporosis. Our results provide preliminary evidence supporting an association of TWIST1 with osteoporosis in postmenopausal women. Introduction: TWIST1, a basic helix-loop-helix (bHLH) transcription factor, has been implicated in cell lineage determination and differentiation. Methods: To address the genetic variations in the TWIST1 gene associated with osteoporosis, we investigated the potential involvement of three TWIST1 single-nucleotide polymorphisms (SNPs) in osteoporosis in 729 postmenopausal women. BMD was measured using dual-energy X-ray absorptiometry. Results: A novel polymorphism in the 3′ flanking region (+1871A>G) was significantly associated with osteoporosis risk (p = 0.007-0.008) and also in multiple comparison (p = 0.02). Consistent with these results, haplotype analysis showed that Block1-ht2 had protective effects in the dominant and additive model (p = 0.006-0.007). Specifically, the +1871A>G polymorphism was overdominantly associated with higher BMD values of the femoral neck (p = 0.039). Conclusion: These results suggest that TWIST1 may be a useful genetic marker for osteoporosis and may have a role on bone metabolism in humans. Our results provide preliminary evidence supporting an association of TWIST1 with osteoporosis in postmenopausal women.

Original languageEnglish
Pages (from-to)757-764
Number of pages8
JournalOsteoporosis International
Volume21
Issue number5
DOIs
StatePublished - May 2010

Bibliographical note

Funding Information:
This work was supported by intramural grants from the Korea National Institute of Health, the Korea Center for Disease Control of the Republic of Korea (project no. 091-4845-301-210-13).

Keywords

  • Association
  • BMD
  • Osteoporosis
  • TWIST1

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