VANGL1 Is Not Associated With the Susceptibility of Adolescent Idiopathic Scoliosis in the Chinese Population

Study Design. A case-control study. Objective. To replicate the association between the VANGL1 gene and the susceptibility of AIS in the Chinese population. Summary of Background Data. The mutations of VANGL1 gene were recently reported to be associated with AIS in the Danish population. However, there is a lack of replication in other populations. Further analysis of the functional role of VANGL1 in AIS was warranted. Methods. A total of 1481 female AIS patients and 1372 age-matched healthy controls were included in this study. single nucleotide variant (SNV)s c.407T > A and c.1318T > G were genotyped using allelic-specific multiple ligase detection reactions. single nucleotide polymorphism (SNP) s covering VANGL1 gene were selected using Haploview (v2.6). The associations between theses SNPs and AIS were investigated through Cochran-Armitage trend test by PLINK (v1.90). Relative mRNA expression of VANGL1 in the paraspinal muscles was analyzed for 30 patients and 24 age-matched controls. The difference of mRNA expression level between the two groups was analyzed with the Student t test. Results. There was no case of mutation for all the subjects. A total of 22 SNPs covering VANGL1 were analyzed. All the SNPs were found to have comparable distribution of genotype and allele frequency in the cases and the controls. Moreover, there was no significant difference regarding the mRNA expression of VANGL1 in the two groups. Conclusion. VANGL1 gene is not associated with AIS in the Chinese population. Replication studies in other ethnic groups are warranted to further clarify the role of the VANGL1 gene in AIS.