Objective: To investigate whether polymorphisms of SIM2 gene are associated with congenital scoliosis (CS) in a Chinese Han population. and explore the relationship of between polymorphisms of SIM2 and clinical phenotypes of CS.
Methods: A case-control design was employed in this study. A total of 127 patients (55 boys, 72 girls, mean age 12.90 y/o) diagnosed with CS admitted at Peking Union Medical College (PUMC) Hospital were enrolled between October 2005 and September 2007. The scoliosis-free control subjects (127 cases) at the same hospital during the same study period were frequency-matched to the cases on 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 genotype data from the International HapMap project, the main functional single nucleotide polymorphisms (SNPs) initially were selected. 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. Genotying of all selected SNPs was done by SNPstream technology (Beckman Coulter SNPstream). All the data of SNPs with polymorphism were analyzed by association analysis based on a single SNP, the association analysis between phenotypes and SNPs. And pairwise linkage disequilibrium was calculated in the control population using Haploview 4.1 software.
Results: SNP1 (rs2073601), SNP2 (rs2073417) and SNP3 (rs2051397) of SIM2 are genotyped. SNP2 and SNP3 in linkage disequilibrium. No association (P > 0.05) is observed between SNP1, SNP2 and SNP3genotypes/allele polymorphisms and risk of CS and different clinical phenotypes.
Conclusion: Genetic variants of SIM2 gene may not be associated with the susceptibility to CS and different clinical phenotypes of CS in Chinese Han population.