Association of estrogen receptor gene polymorphisms with susceptibility to adolescent idiopathic scoliosis

Study Design. A case-control study is presented. Objective. To investigate the association of estrogen receptor gene polymorphisms with adolescent idiopathic scoliosis (AIS) risk. Summary of Background Data. Previous studies have shown that genetic factors are important in the pathogenesis of idiopathic scoliosis. Only 1 publication suggested that XbaI site polymorphism was associated with curve severity of idiopathic scoliosis. However, to our knowledge, the relationship of estrogen receptor gene polymorphisms and the individual susceptibility to idiopathic scoliosis has not been studied. Methods. This study included 202 patients with AIS and 174 healthy controls. Height, menarche status, curve pattern, Cobb angle, and Risser sign in female patients were recorded. There were 2 polymorphic loci, PvuII and XbaI locus, of estrogen receptor analyzed by restriction fragment length polymorphisms. Results. The frequency of XX genotype was significantly higher in patients than that in controls (P = 0.005). The X allele appeared to be overrepresented in patients compared with controls (P = 0.001). Furthermore, the frequencies of XX genotype in female patients whose height was >= 160 cm and Cobb angle >= 40 degrees were higher than those whose height was < 160 cm and Cobb angle < 40 degrees (P = 0.001 and P < 0.001, respectively). Conclusions. The XbaI site polymorphism of estrogen receptor gene may be associated with a risk of AIS.