Genome-wide association study of adolescent idiopathic scoliosis in southern China

Abstract

INTRODUCTION: The cause of adolescent idiopathic scoliosis (AIS) is still not known. Although several candidate gene studies and linkage analyses have been done, no causal relationship has yet been established. To our knowledge, we report the first case-control based genome-wide association study (GWAS) for this trait. METHODS: The study was undertaken in a set of 196 cases with a specific AIS phenotype (based on Lenke’s classification) in southern China, and in 401 controls without radiological evidence of scoliosis. RESULTS: Two single-nucleotide polymorphisms (SNPs) on one particular chromosome showed marginal significant association (snp1: p=1∙32x10–6, odds ratio=0∙52; snp2: p=1∙23x10–5, odds ratio=0∙55). Imputation results suggested that three more SNPs in this region showed significant association (snp3: p=2∙47x10–7, odds ratio=0∙49; snp4 and snp5: p=1∙68x10–6, odds ratio=0∙53). CONCLUSIONS: Despite the small number of cases and controls, the strength of this study is in the use of a specific phenotype and that all controls were mature individuals with radiological confirmation of straight spines. We believe that these factors have contributed to the success of the GWAS. Our findings offer the potential to explore the pathogenesis of AIS with GWAS.