Association Of Estrogen Receptorβ Gene Polymorphisms With Susceptibility To Adolescent Idiopathic Scoliosis

Objective To investigate the association of estrogen receptorβgene polymorphisms with susceptibility to adolescent idiopathic scoliosis.Methods This study included 102 patients with AIS and 100 healthy controls. Height, menarche status, curve pattern, Cobb angle, and Risser sign in female patients were recorded. Blood samples were taken from each subject by venipuncture. Genomic DNA was extracted from peripheral blood leukocytes using standard phenol/chloroform extraction. PCR products from amplification of genomic DNA from all individuals were analysed using SSCP.Mutation analysis were carried out for the samples with aberrant SSCP profiles and the polymorphic loci were analyzed by RFLP. Theγ~2 test was used to determine the significant difference in genotype distribution between patients with AIS and the controls.Results The frequency of CC genotype of the extron "OK", AA of the extron 5, TT of the rs1256031 and CC of the rs1256059 were significantly higher in patients than that in controls (P=0.008, P=0.001,P=0.014 and P=0.001, respectively).The C and A alleles appeared to be overrepresented in patients compared with controls (P=0.017, P=0.007,P=0.030 and P=0.003, respectively). Furthermore, the frequencies of CC and AA genotypes in female patients whose height was≥160 cm and Cobb angle≥30°were higher than those whose height was＜160 cm and Cobb angle＜30°(P=0.018, P=0.004, P=0.002 and P=0.040, respectively).Conclusions The sites of the extron "OK", extron 5, rs1256031 and rs1256059 polymorphism of estrogen receptor geneβmay be associated with a susceptibility of AIS. Furthermore, The sites of the extron "OK" and extron 5 polymorphism may be associated with the height and the curve severity of patients.