Role of polymorphisms in COL9A1 gene in the development of congenital talipes equinovarus in a Chinese population

In this case-control study, we conducted a case-control study to investigate the whether the two SNPs in COL9A1 (rs1135056 and rs592121) could influence the development of congenital talipes equinovarus in a Chinese population. A total of 205 patients with congenital talipes equinovarus and 205 control subjects were consecutively selected between January 2012 and October 2014. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was taken to genotype COL9A1 rs1135056 and rs592121. Unconditional logistic regression analysis was taken to analyze the correlation between COL9A1 rs1135056 and rs592121 gene polymorphisms and risk of congenital talipes equinovarus. Using unconditional logistic regression analysis, we found that individuals with the GG genotype of rs1135056 was associated with an increased risk of congenital talipes equinovarus when compared to the AA genotype (OR=1.45, 95% CI=0.90-2.35). In dominant and recessive models, the rs1135056 polymorphism was associated with the development of congenital talipes equinovarus, and the adjusted ORs (95% CI) were 1.95 (1.13-3.78) and 1.59 (1.01-2.55). However, the rs592121 gene polymorphism did not influence the susceptibility to congenital talipes equinovarus. In conclusion, our study indicated that COL9A1 rs1135056 polymorphism was associated with an increased risk of congenital talipes equinovarus in co-dominant, dominant and recessive models. Further studies with larger sample sizes must be conducted in the future to confirm this association.