The polymorphism of SMAD3 rs1065080 is associated with increased risk for knee osteoarthritis.

The mechanism of knee osteoarthritis (OA) is still not clearly elucidated. SMAD3 gene polymorphisms are considered to play a vital role in OA pathogenesis. We thus investigated the relationship of SMAD3 rs1065080 gene polymorphism and susceptibility to knee osteoarthritis in a Chinese Han population. A total of 237 patients and 142 healthy control participants were enrolled in a case-control study. DNA was extracted from peripheral blood samples and genotyped by using the Mass-ARRAY method. Our results revealed that there was a significant difference between patients and healthy controls in the genotype of A and G (p = 0.019); those with a GG genotype had a significant increase in OA risk (OR 2.881, 95% CI 1.993-7.353, p = 0.025). In addition, logistic regression analysis showed that the recessive genetic model decreased OA morbidity (OR 0.648, 95% CI 0.416-0.911, p = 0.046). In conclusion, the GG genotype of rs1065080 was associated with a higher risk of OA and the recessive genetic model decreased the risk of OA.