Polymorphism at an Sp1 Binding Site of COL1A1 and Bone Mineral Density in Premenopausal Female Twins and Elderly Fracture Patients
Polymorphism at an Sp1 Binding Site of COL1A1 and Bone Mineral Density in Premenopausal Female Twins and Elderly Fracture Patients
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DOI：
10.1007/s001980050157
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发表时间：
1999
影响因子：
4
通讯作者：
F. G. Hustmyer;G. Liu;C. Johnston;J. Christian;M. Peacock
中科院分区：
文献类型：
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作者：
F. G. Hustmyer;G. Liu;C. Johnston;J. Christian;M. Peacock
据报道，COL1A1 基因 Sp1 结合位点的多态性与骨矿物质密度 (BMD) 和骨质疏松性椎体骨折有关。因此，我们在 38 对同卵 (MZ) 和 40 对双卵 (DZ) 双胞胎白人成年女性中检查了 COL1A1 基因 Sp1 多态性与腰椎和股骨颈 BMD 的关联和连锁。所有双胞胎均处于绝经前，年龄范围为 21-49 岁。对 56 名特发性骨质疏松性椎体骨折患者的 Sp1 基因型进行了检查，以确定相对于我们正常健康双胞胎受试者的任一基因型的优势。在双胞胎样本中，未发现 Sp1 基因型与脊柱和股骨颈 BMD 之间存在显着关联。在基因型不一致的异卵双胞胎中，未观察到 Sp1 基因型与脊柱或股骨颈 BMD 之间的关联。在我们的健康（双胞胎）和骨折人群样本中，Sp1 基因型的频率相似。总之，在我们的美国绝经前双胞胎样本中，我们发现 COL1A1 基因的 Sp1 多态性与腰椎和股骨颈的 BMD 没有关联或连锁，并且在我们的骨质疏松性椎体骨折患者样本中没有观察到任何 Sp1 基因型的过度表现。总而言之，这些结果表明 Sp1 多态性与我们美国样本中的 BMD 无关，并且与英国人群中的发现形成对比。
Polymorphism at an Sp1 binding site in the COL1A1 gene has been reported to be associated with bone mineral density (BMD) and osteoporotic vertebral fracture. We therefore examined for associations and linkage of the Sp1 polymorphism in the COL1A1 gene and BMD at the lumbar spine and femoral neck in 38 monozygotic (MZ) and 40 dizygotic (DZ) twin pairs of white adult women. All twins were premenopausal with an age range of 21–49 years. Sp1 genotypes of 56 patients with idiopathic osteoporotic vertebral fracture were examined for a preponderance of either genotype relative to our normal healthy twin subjects. In the twin sample no significant association was found between Sp1 genotypes and BMD at the spine and femoral neck. No linkage of Sp1 genotype and BMD at the spine or femoral neck was observed in DZ twins discordant for genotype. Frequencies of Sp1 genotypes were similar in our healthy (twin) and fracture population samples. In conclusion, in our American sample of premenopausal twins we found no association or linkage of the Sp1 polymorphism at the COL1A1 gene and BMD at the lumbar spine and femoral neck, and no over-representation of any Sp1 genotype was observed in our sample of patients with osteoporotic vertebral fracture. Taken together these results indicate that the Sp1 polymorphism is not related to BMD in our American sample, and contrasts with the findings in a British population.