上海地区绝经后妇女Ⅰ型胶原α1基因多态性与骨密度无关

Non-association between the polymorphism of collagen type Ⅰ alpha 1 gene and bone mineral density of postmenopausal women in Shanghai

目的 研究上海地区 2 0 5名绝经后妇女Ⅰ型胶原α1(COLIA1)基因Sp1结合位点的多态性变化与骨密度的关系。方法 用PCR RFLP法检测COLIA1基因多态性 ,基因型中的大写和小写字母 (S和s)分别表示无和有限制性内切酶位点。以双能X线骨密度仪测定腰椎和股骨颈等处骨密度。结果所有样本均为SS基因型 ,没有发现Ss和ss型。结论 COLIA1基因多态性可能有较大的种族差异 ,与上海地区绝经后妇女的骨密度无关。

Objective To investigate the relationship between the polymorphisms of collagen type Ⅰ alpha 1 (COLIA1) gene and bone mineral density of postmenopausal women in Shanghai. Methods The polymorphisms of Sp1 binding site in COLIA1 gene were observed in 205 postmenopausal women by PCR, digested with MscⅠ restriction endonuclease and separated by 12% polyacrylamide gel electrophoresis. The capital letter S represents for the absence of the restriction endonuclease site, while the small letter s for the presence of the restriction endonuclease site. Bone mineral density at lumbar spine and femoral neck, etc. were measured by DEXA. Results Neither Ss nor ss genotypes of COLIA1 gene was found in our sample, all were SS genotype. Conclusion The contribution of Sp1 site variation of COLIA1 gene to bone mass might have a strong ethnic difference. The restriction fragment length polymorphisms of COLIA1 gene do not show relationship with the bone mass of postmenopausal women in Shanghai. The significance of this genetic marker of osteoporosis needs to be further explored in larger samples and in different areas.