The association study of MMP2 polymorphisms with susceptibility to adolescent idiopathic scoliosis in Han Chinese

Objective: Idiopathic scoliosis is the most common pediatric spinal deformity affecting 1% to 3% of the population, and adolescent idiopathic scoliosis (AIS) accounts for approximately 80% of these cases, however, the etiology and pathogenesis of AIS are still uncertain. The current study aims to identify the relationship between MMP2 and AIS predisposition, to investigate the major effect of MMP2 Gene in AIS patients, and to identify the relationship between the genotypes of the SNPs and the clinical phenotypes of AIS. Methods: 187 AIS patients and 184 healthy controls were enrolled into this case-control study. Two single nucleotide polymorphism (SNPs) candidates in MMP2 gene were selected by Haploview 4.0 software, case-control study was performed to determine the relationship between MMP2 gene and AIS predisposition. Case-only study was performed to determine the effects of these variants on the severity of the condition. Results: Both -735 C/T and -1306 C/T were found to be associated with AIS predisposition. The ORs were observed as 2.549 (95% CI 1.3519-3.8579, P=0.0046), and 1.923 (95% CI 1.2381-2.676, P=0.0157) for -735 C/T and -1306 C/T respectively. There was statistically significant difference between main curve, severity and genotype distributions of these two SNPs. Conclusion: Genetic variants of MMP2 gene are associated with AIS susceptibility and may play an important role in the development of AIS in the Han Chinese. Different clinical phenotype of AIS might be related to different SNP loci.