COL4 A1 基因 SNPrs3783107 多态性与女性骨密度的关系

摘要

Objective To investigate the association between genetic polymorphisms of collagen type Ⅳ alpha1 gene ( COL4A1) and bone mineral density ( BMD) in women in Baotou city.Methods Case-control study was used in the research.Epidemiologic data of 596 healthy females were collected from the First Affiliated Hospital of Baotou Medical College.BMD of all subjects was measured using dual-energy X-ray absorptiometry.PCR-restriction fragment length polymorphism ( PCR-RFLP) was applied to examine polymorphisms of the COL 4A1 gene.Generalized linear model was used to analyze the association of polymorphism with BMD of the lumbar spine and the femur.Results Without or with adjustment for environmental covariates, significant correlation was found between the SNP rs3783107 mutation genotype of COL4A1 gene and BMD reduction in the femoral neck and the lumbar spine ( P=0.011, 0.004) in pre-menopause females.No significant correlation was found between mutation genotypes of COL4A1 gene and BMD in post-menopause females ( P =0.090, 0.093 ) .Conclusion There is significant relationship between SNPrs3783107 polymorphism of COL4A1 gene and BMD of the femoral neck and the lumbar spine in pre-menopause women in Baotou city.%目的 研究COL4A1基因多态性与包头市区女性骨密度的关系. 方法 采用病例-对照研究方法,收集在包头医学院第一附属医院进行健康体检的596例女性流行病学资料,用双能X线吸收仪对研究对象进行骨扫描. 应用PCR-RFLP方法检测COL4A1基因型. 用广义线性模型分析此位点多态性与腰椎及股骨颈骨密度关系. 结果 在调整环境混杂因素前后,均显示COL4A1基因SNPrs3783107突变基因型与绝经前女性股骨颈和腰椎骨密度降低呈显著相关(P=0.011、0.004),但与绝经后的骨密度无显著相关性(P=0.090、0.093). 结论 COL4A1基因SNPrs3783107多态性与包头市区绝经前女性股骨颈及腰椎骨密度显著相关.