Association of TWIST1 gene polymorphisms with bone mineral density in postmenopausal women
| Autor: | G. S. Kim, J.-Y. Hwang, H.-L. Kim, Hyoung Doo Shin, B. L. Park, Eui-Kyun Park, Hyuncheol Kim, Shin Yoon Kim, Tae-Ho Kim, Jung-Min Hong, Jeongwu Lee, S. E. Kim, M. J. Go, Seung Hun Lee, Jung-Min Koh |
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| Rok vydání: | 2009 |
| Předmět: |
Adult
Genetic Markers medicine.medical_specialty animal structures Genotype Bone density Endocrinology Diabetes and Metabolism Osteoporosis Single-nucleotide polymorphism Polymorphism Single Nucleotide Bone remodeling Absorptiometry Photon Bone Density Internal medicine medicine Humans Gene Regulatory Networks Genetic Predisposition to Disease Osteoporosis Postmenopausal Aged Femoral neck Aged 80 and over Bone mineral Lumbar Vertebrae Femur Neck business.industry Twist-Related Protein 1 Haplotype Nuclear Proteins Middle Aged medicine.disease Rheumatology Endocrinology medicine.anatomical_structure Haplotypes Female Epidemiologic Methods business |
| Zdroj: | Osteoporosis International. 21:757-764 |
| ISSN: | 1433-2965 0937-941X |
| DOI: | 10.1007/s00198-009-1009-8 |
| Popis: | 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. TWIST1, a basic helix–loop–helix (bHLH) transcription factor, has been implicated in cell lineage determination and differentiation. 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. 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). 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. |
| Databáze: | OpenAIRE |
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