TGF β1 gene polymorphisms correlate with the susceptibility of osteoarthritis.

Objective: We investigated the potential role of transforming growth factor beta 1 (TGF β1) gene polymorphisms (rs1800470 and rs1800469) in the occurrence of osteoarthritis (OA).

Methods: Genotypes of TGF β1 gene polymorphisms (rs1800470 and 1800469) were genotyped by TaqMan method in 111 OA patients and 129 healthy controls. The representativeness of case and control was inspected by Hardy-Weinberg equilibrium (HWE). Genotype and allele distribution differences between case and control groups were calculated by Chi-square test. Odds ratios (ORs) and their corresponding 95% confidence intervals (95% CIs) were utilized to emerge the relative risk of OA.

Results: Genotype distributions of the two TGF β1 gene polymorphisms were according to HWE examination. TT genotype of rs1800470 was significantly associated with the occurrence of OA (P=0.046, OR=2.093, 95% CI=1.009-4.340). For rs1800469, both TT genotype and T allele had significant association with the susceptibility of OA (P=0.000, OR=3.650, 95% CI=1.759-7.575; P=0.000, OR=1.957, 95% CI=1.360-2.817).

Conclusions: TT genotype of rs1800470, TT genotype and T allele of rs1800469 were increased the risk of OA. We conjectured that the polymorphisms of TGF β1 gene might increase the individual susceptible of OA.