Association of DVL2 gene polymorphisms with susceptibility to congenital scoliosis in a Chinese Han population

Background: In recent 20 years, mouse molecular embryology research has achieved much molecular information regarding vertebrae development. It is possible to determine the candidate gene for congenital scoliosis (CS) using linear analysis. Objective: To investigate the association of DVL2 polymorphisms with CS clinical phenotypes in a Chinese Han population by screening key single nucleotide polymorphism sites of candidate gene DVL2. Methods: A case-control design was applied in this study. A total of 127 patients diagnosed with CS and 127 scoliosis-free control subjects were enrolled in this study. According to genotype data from International HapMap project, the key single nucleotide polymorphisms (SNPs) of DVL2 were initially selected using Haploview 4.1 software. The patient group was classified into different clinical phenotypes according to vertebral defect type, deformity location, defect degree, combined rib malformations and neural canal deformity. All selected SNPs were genotype identified using SNPstream UHT Genotyping system. An association analysis based on genotype/allele frequency was further performed. Pairwised linkage disequilibrium was evaluated in the control group using Haploview 4.1 software. Results and Conclusion: Five SNPs of DVL2 gene were genotyped: SNP1 (rs2074222), SNP2 (rs222837), SNP3 (rs222835), SNP4 (rs10671352) and SNP5 (rs222836), and all polymorphisms were in Hardy-Weinberg equilibrium both in control and in patient groups. Five SNPs were in linkage disequilibrium. No association (P > 0.05) was observed between SNP genotypes/allele polymorphisms/haploid and CS risk and clinical phenotypes. Results showed that genetic variants of DVL2 gene may not be associated with the susceptibility to CS and different clinical phenotypes of CS in a Chinese Han population.