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.