STUDY DESIGN: A case-control study is presented.
OBJECTIVE: To investigate the association of estrogen receptor beta gene 
polymorphisms with susceptibility to adolescent idiopathic scoliosis.
SUMMARY OF BACKGROUND DATA: Studies have shown that idiopathic scoliosis is 
related to genetic factors, such as XbaI site polymorphism of the estrogen 
receptor alpha gene. To our knowledge, however, the relationship of estrogen 
receptor beta gene polymorphisms and the individual susceptibility to idiopathic 
scoliosis has not been studied.
METHODS: This study included 218 patients with AIS and 140 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 analyzed using denaturing high-performance 
liquid chromatography. Samples with aberrant HPLC profiles were sequenced in 
both the forward and the reverse directions on an ABI 3100 automated sequencer. 
The chi 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 exon ØK (in reality 5' UTR OK-1)was 
significantly higher in patients than that in controls (P < 0.05). The C alleles 
appeared to be overrepresented in patients compared with controls (P < 0.05). 
Furthermore, the frequencies of CC genotypes in female patients whose height was 
> or =160 cm and Cobb angle was > or =30 degrees were higher than those whose 
height was <160 cm and Cobb angle was <30 degrees (P < 0.05). CONCLUSION.: The 
sites of the exon ØK polymorphisms of estrogen receptor beta gene may be 
associated with a susceptibility of AIS. Furthermore, the sites of the exon ØK 
polymorphism may be associated with the height and the curve severity of 
patients.