Gene polymorphic analysis in girls with idiopathic scoliosis

许多研究表明，特发性脊柱侧凸是一种家族性疾病，曲线的进展也与遗传因素有关，如骨骼生长和月经初潮。近年来，骨骼生长与雌激素受体（ER）基因、维生素D受体（VDR）基因、CYP17基因等相关基因的研究越来越多。本研究的目的是确定ER、VDR和CYP17基因的DNA多态性是否与青少年特发性脊柱侧凸的发病机制有关。对304名患有青春期特发性脊柱侧凸的女孩进行了随访。记录身高、臂展、生长成熟时间、Risser氏征、月经初潮年龄，采用Cobb法测定曲线严重程度。选取ER基因Pvu II、Xba I位点多态性，VDR基因Apa I、Fok I、Taq I位点多态性，CYP17基因Msp AI位点多态性。从外周血中提取单个淋巴细胞dna，用聚合酶链反应（PCR）扩增含有多态性位点的每个基因。基因型XX和基因型XX的Cobb曲线角大于基因型XX的Cobb曲线角。基因型XX和基因型XX的曲线进展风险（30度或40度）高于基因型XX。此外，基因型为XX和XX的患者接受手术治疗的风险高于基因型为XX的患者。结果表明，ER基因xba1位点多态性与曲线进展有关。此外，xbai位点多态性也与生长成熟时间有关。另一方面，VDR基因和CYP17基因的其他多态性与曲线严重程度无关。DNA多态性分析可以预测曲线进展。

Many studies have suggested that idiopathicscoliosis is a familial condition, and curve progression was also related to the genetic factors, such as skeletal growth and menarche.Recently, associations between skeletal growth and genes including estrogen receptor (ER) gene and vitamin D receptor (VDR) gene, and CYP17 gene, were reported. The aim of this study was to determine whether DNA polymorphisms in the ER, VDR, and CYP17 gene are related to the pathogenesis of adolescent idiopathic scoliosis. Three hundred and four girls with adolescent idiopathic scoliosis were followed. Height, arm span, the time of growth maturation, Risser's sign, and menarcheal age were recorded, and the curve severity was measured using Cobb's method. Pvu II and Xba I site polymorphism in the ER gene, Apa I, Fok I, and Taq I site polymorphism in the VDR gene, and Msp AI site polymorphism in the CYP17 gene were selected. Individual lymphocyte DNAs were extracted from peripheral blood, and each gene, which contain polymorphic site was amplified by polymerase chain reaction (PCR). The Cobb's curve angle with genotype XX and Xx was statistically greater than that with genotype xx. The curve progression risk ( 30 or 40 degrees) was higher for genotype XX and Xx than for genotype xx. Furthermore, patients with genotype XX and Xx had a higher risk of receiving operative treatment than those with genotype xx.The results suggested that Xba I site polymorphism in the ER gene was associated with curve progression. Furthermore, Xba I site polymorphism-was also related to the time of growth maturation. On the other hand, other polymorphisms in the VDR gene and CYP17 gene were not associated with curve severity. DNA polymorphic analysis may predict curve progression.