褪黑素受体1B基因与青少年特发性脊柱侧凸患者骨密度的相关性  

Association between melatonin receptor 1B gene polymorphisms and bone mineral density in adolescent idiopathic scoliosis

作　　者：邱旭升[1] 邓亮生[2] 杨晓恩[3] 郑振耀[3] 邱勇[1] 

机构地区：[1]南京大学医学院附属鼓楼医院骨科,210008 [2]香港中文大学病理化学系 [3]香港中文大学医学院矫形外科及创伤学系

出　　处：《中国骨质疏松杂志》2009年第1期23-26,共4页Chinese Journal of Osteoporosis

基　　金：香港研资局基金资助项目(CUHK4337/04M);江苏省国际科技合作项目(BZ2007024);江苏省自然科学基金资助项目(BK2007203)

摘　　要：目的探讨褪黑素受体1B基因（MTNR1B）多态性与青少年特发性脊柱侧凸（AIS）患者骨密度之间的相关性。方法选取511例年龄在12～18岁之间的女性AIS患者，采用双能X线骨密度吸收仪测量优势侧近端股骨的骨密度。同时，采取患者外周静脉血，采用试剂盒提取DNA。通过PCR—RFLP的方法检测MTNR1B基因启动子区上2个基因多态性位点的基因型。采用ANOVA的统计学方法比较不同基因型对应骨密度大小。结果MTNR1B基因2个多态性位点各基因型所对应的骨密度差异无显著性（P〉0．05）。结论MTNR1B基因多态性与AIS患者的骨密度之间没有相关性，它可能在AIS患者的低骨量中不发挥作用。Objective To investigate the association between melatonin receptor 1B （MTNR1B） gene polymorphism and bone mineral density in adolescent idiopathic scoliosis （AIS）. Methods 511 female AIS patients aged 12 -18 years were recruited for this study. Bone mineral density （BMD） measurements of the dominant proximal femora were performed by dual energy X-ray absorptiometry （DXA）. Peripheral bloods were collected, and genomic DNAs were extracted using a commercial available kit. Two SNPs （rs4753426 and rs7941837） in the promotor region of MTNR1B gene were genotyped using PCR-RFLP method. ANOVA was used for the comparison of bone mineral density of different genotypes. Results No differences in BMD were found with different genotypes for these two SNPs in AIS patients. Conclusion No association is found between the polymorphisms of MTNR1B gene and bone mineral density in AIS patients. The results suggested that genetic variation in MTNR1B gene maybe not involved in the pathogenesis of lower BMD in AIS patients.

关 键 词：褪黑素受体1B 基因多态性 骨密度 青少年特发性脊柱侧凸 

分 类 号：R682.3[医药卫生—骨科学]