Gene polymorphic analysis in girls with idiopathic scoliosis

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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.