Genetic Variants Can Predict the Outcome of Brace Treatment in Patients With Adolescent Idiopathic Scoliosis.

Study design: A genetic case-control study.

Objectives: To investigate the association between AIS progression-associated SNPs reported by GWAS studies and the effectiveness of brace treatment.

Summary of background data: Bracing is the most effective conservative method to treat adolescent idiopathic scoliosis (AIS). Several factors have been reported to be associated with bracing failure in AIS patients. Genetic markers associated with AIS have potential prognostic value.

Methods: A retrospective cohort of AIS patients undergoing brace treatment was enrolled in this study and divided into success and failure groups based on treatment outcome. Clinical characteristics of AIS patients were documented. Candidate SNPs were selected from previous GWAS studies of AIS, which were known to be associated with curve progression and validated across diverse populations. Genotype and allele frequencies between the success and failure groups were compared using χ 2 analysis.

Results: A total of 259 female AIS patients were included in this study, 30.5% of the well-braced patients had curve progression exceeding 5° and 69.5% of the patients undergo an improvement or progression of <5°. Allele C of rs10738445 ( BNC2 ) could significantly add to the risk of bracing failure, with odds ratio of 1.59. No significant association with bracing outcomes was found for rs12946942 ( SOX9/KCNJ2 ), rs1978060 ( TBX1 ), rs1017861 ( CHD7 ), and rs35333564 ( MIR4300HG ).

Conclusions: SNP rs10738445 were significantly associated with brace treatment effectiveness. The other four SNPs were not significantly associated with the outcome of bracing. More SNPs and predictors should be included in future study to develop a more accurate predictive model for clinical application.