Association between COL6A4P1 gene polymorphisms and knee osteoarthritis in the North Chinese Han population

Abstract Objective Previous studies have shown that knee arthritis is a disease influenced by environmental and genetic factors. In this paper, we mainly investigate the association between SNPs in the COL6A4P1 gene region and the susceptibility to KOA in north Chinese Han people. Methods We performed two-center cross-sectional observational study that included 103 Chinese Han patients with KOA and 128 healthy Chinese Han volunteers. We investigated four SNPs (rs11718863, rs7639618, rs7651842 and rs7639807) in the COL6A4P1 gene region and extracted the genes using QIAamp DNA Mini Kit. We amplified the target gene fragment and sequenced the genotype. The corresponding frequency were counted and the counting results were statistically analyzed. Results The patient group was significantly older than the control group, and the difference was statistically significant(P < 0.001). There were no statistically significance between-group differences in gender, height, weight, or BMI (P > 0.05, respectively). The chi-square test was used to analyze the four SNPs of COL6A4P1 gene, and rs11718863 and rs7639618 polymorphism was statistically different between the two groups(P = 0.012, P = 0.023, respectively). The rs11718863 and rs7639618 was consistent with Hardy-Weinberg equilibrium. Logistic regression analysis showed that KOA risk was significantly increased in the rs11718863 TT genotype (2.926, 95%CI 1.410, 6.069, P = 0.004) and the rs7639618 TT genotype (OR 3.50, 95% CI 1.687, 7.260, P = 0.001). After age adjustment, the same result was observed in the rs11718863 SNP(OR 2.649, 95% CI 1.251, 5.611, P = 0.011), and the risk of KOA disappeared in the rs7639618 SNP (OR 3.304, 95% CI 1.562, 6.990, P = 0.002). The rs7651842 and rs7639807SNP were monomorphic for the T and C allele respectively. Conclusions We found that the rs11718863 and rs7639618 SNP were associated with KOA. The TT genotype and T allele were the highest risk factors for the development of KOA in the north Chinese Han population.