Han K O, Moon I G, Hwang C S, Choi J T, Yoon H K, Min H K, Han I K
Department of Medicine, Samsung Cheil Women's Healthcare Center and Hospital, Sungkyunkwan University College of Medicine, Seoul, South Korea.
Bone. 1999 Feb;24(2):135-7. doi: 10.1016/s8756-3282(98)00155-0.
Osteoporosis is a disease that is strongly genetically influenced. However, the genes responsible for the disease are poorly defined. Recent data show that a G-T transition polymorphism of the Sp1 binding site at the collagen type I alpha1 gene (Sp1 polymorphism) is associated significantly with bone mineral density (BMD) and osteoporotic fracture in British women. To establish the association between the Sp1 genotypes and BMD in Korean women, we examined 200 healthy postmenopausal women of Korean ethnicity, ranging in age from 44 to 66 years (mean+/-SD: 54.7+/-5.3 years). PCR amplification using the same primers as those used previously, with enzyme digestion, revealed no restriction site in our samples. We also performed a single-strand conformational polymorphism (SSCP) analysis in 100 of the 200 samples and could not find any polymorphic sites in the PCR amplification region. Based on our study, the Sp1 polymorphism at the type I collagen alpha1 gene was not found in Korean women. Therefore, we suggest that the Sp1 polymorphism at the type I collagen alpha1 gene is absent or rare in Korean women. Based on the present findings, this polymorphism does not seem to be responsible for the entire genetic contribution to BMD.
骨质疏松症是一种受遗传因素影响很大的疾病。然而，导致该疾病的基因尚未明确界定。最近的数据表明，I型胶原α1基因（Sp1多态性）的Sp1结合位点的G-T转换多态性与英国女性的骨密度（BMD）和骨质疏松性骨折显著相关。为了确定韩国女性中Sp1基因型与骨密度之间的关联，我们检查了200名年龄在44至66岁之间（平均±标准差：54.7±5.3岁）的韩国裔健康绝经后女性。使用与之前相同的引物进行PCR扩增，并进行酶切，结果显示我们的样本中没有限制性位点。我们还对200个样本中的100个进行了单链构象多态性（SSCP）分析，在PCR扩增区域未发现任何多态性位点。基于我们的研究，在韩国女性中未发现I型胶原α1基因的Sp1多态性。因此，我们认为I型胶原α1基因的Sp1多态性在韩国女性中不存在或很罕见。基于目前的研究结果，这种多态性似乎并不是骨密度全部遗传贡献的原因。
