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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2010-05

AUTHORS

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

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. More... »

PAGES

757-764

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00198-009-1009-8

DOI

http://dx.doi.org/10.1007/s00198-009-1009-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1027710806

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/19597909


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