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

doi:10.1007/s00198-009-1009-8

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

Department of Biochemistry

Research output: Contribution to journal › Article › peer-review

7 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 language	English
Pages (from-to)	757-764
Number of pages	8
Journal	Osteoporosis International
Volume	21
Issue number	5
DOIs	https://doi.org/10.1007/s00198-009-1009-8
State	Published - 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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Hwang, J. Y., Kim, S. Y., Lee, S. H., Kim, G. S., Go, M. J., Kim, S. E., Kim, H. C., Shin, H. D., Park, B. L., Kim, T. H., Hong, J. M., Park, E. K., Kim, H. L., Lee, J. Y., & Koh, J. M. (2010). Association of TWIST1 gene polymorphisms with bone mineral density in postmenopausal women. Osteoporosis International, 21(5), 757-764. https://doi.org/10.1007/s00198-009-1009-8

@article{7590cea0f7a941089998b89a06a02274,

title = "Association of TWIST1 gene polymorphisms with bone mineral density in postmenopausal women",

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.",

keywords = "Association, BMD, Osteoporosis, TWIST1",

author = "Hwang, {J. Y.} and Kim, {S. Y.} and Lee, {S. H.} and Kim, {G. S.} and Go, {M. J.} and Kim, {S. E.} and Kim, {H. C.} and Shin, {H. D.} and Park, {B. L.} and Kim, {T. H.} and Hong, {J. M.} and Park, {E. K.} and Kim, {H. L.} and Lee, {J. Y.} and Koh, {J. M.}",

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).",

year = "2010",

month = may,

doi = "10.1007/s00198-009-1009-8",

language = "English",

volume = "21",

pages = "757--764",

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T1 - Association of TWIST1 gene polymorphisms with bone mineral density in postmenopausal women

AU - Hwang, J. Y.

AU - Kim, S. Y.

AU - Lee, S. H.

AU - Kim, G. S.

AU - Go, M. J.

AU - Kim, S. E.

AU - Kim, H. C.

AU - Shin, H. D.

AU - Park, B. L.

AU - Kim, T. H.

AU - Hong, J. M.

AU - Park, E. K.

AU - Kim, H. L.

AU - Lee, J. Y.

AU - Koh, J. M.

N1 - 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).

PY - 2010/5

Y1 - 2010/5

N2 - 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.

AB - 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.

KW - Association

KW - BMD

KW - Osteoporosis

KW - TWIST1

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DO - 10.1007/s00198-009-1009-8

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SN - 0937-941X

VL - 21

SP - 757

EP - 764

JO - Osteoporosis International

JF - Osteoporosis International

IS - 5

ER -

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

Abstract

Bibliographical note

Keywords

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