Objective: To investigate whether the polymorphisms of WNT3A gene are associated with congenital scoliosis (CS) and its various clinical phenotypes in a Chinese Han population.
Methods: A total of 127 CS patients admitted into PUMC were enrolled into this case-control study between October 2005 and September 2007. There were 55 boys and 72 girls with a mean age of 12.90 years old. Another 127 scoliosis-free control subjects at the same hospital during the same study period were frequency-matched with regards to age (± 3 years) and gender. Genomic DNA was extracted by QIAamp DNA Blood Mini Kit from peripheral blood leukocytes of each subject who had signed informed consent. Based on the genotypic data from the International HapMap project, the main functional single nucleotide polymorphisms (SNPs) were initially selected. The patients in the case group were classified into different clinical phenotypes according to vertebral defect type, location of deformity, extent of developmental disruption, combined rib malformations and neural canal deformity. The genotying of all selected SNPs was performed by SNPstream technology (Beckman Coulter SNPstream). All data of SNPs with polymorphism were processed by the association analysis based on a single SNP and between phenotypes and SNPs. And the pairwise linkage disequilibrium was calculated in the control population by Haploview 4.1 software.
Results: The SNP1 (rs964941) and SNP2 (rs752107) of WNT3A were genotyped. There was no linkage disequilibrium between two SNPs. No association was observed between SNP1 and SNP2 genotypes or allele polymorphisms and risk of CS and various clinical phenotypes (P > 0.05).
Conclusions: The genetic variants of WNT3A gene may not be associated with the susceptibility to CS and various clinical phenotypes of CS in Chinese Han population.