The genetic relationship of SOX9 polymorphisms with osteoarthritis risk in Chinese population: A case-control study

This research aimed to reveal the relationship of SRY-type HMG box 9 (SOX9) gene polymorphisms with osteoarthritis (OA) risk in a Chinese population.Polymerase chain reaction and direct sequencing were used for genotyping polymorphism in 152 OA patients and 139 controls. Firstly, the conformity of genotype distribution to Hardy-Weinberg equilibrium in the control group was checked. The differences in genotype and allele frequencies of our studied polymorphism were compared between the two groups using chi-square test. Odds ratio (OR) with 95% confidence interval (95%CI) was used to appraise the strength of the relationship between the polymorphism and OA occurrence. Cross-over analysis was conducted to reveal the interaction between polymorphisms in SOX9.The AA genotype of the polymorphism rs1042667 was significantly correlated to the increased susceptibility to OA (OR = 2.075, 95%CI = 1.042-4.132). We also detected that the A allele of the polymorphism rs1042667 also obviously increased the occurrence of OA in our study (OR = 1.401, 95%CI = 1.009-1.945). Moreover, the G allele of the polymorphism rs12601701 and the A allele of the polymorphism rs1042667 could significantly elevate the risk of OA (OR = 2.075, 95%CI = 1.021-4.218).SOX9 polymorphism rs1042667 may be a risk factor for OA in Chinese Han population. The interaction between the polymorphisms rs1042667 and rs12601701 also contribute to OA risk.