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Although the +104T/C polymorphism in the 5' untranslated region (UTR) of growth differentiation factor 5 (GDF5) plays a role in the pathogenesis of knee osteoarthritis, the results have been inconsistent. In this study, we performed a meta-analysis to assess the association of +104T/C polymorphism with knee osteoarthritis. Published literature from PubMed, Google Scholar and China National Knowledge Infrastructure data was retrieved. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated using fixed- or random-effects models. A total of 6 case-control studies containing 2,744 patients and 4,518 controls were enrolled in this meta-analysis. Overall, a statistically significant association was found between the +104T/C polymorphism and risk of knee osteoarthritis (TT vs. CC: OR 1.68, 95% CI=1.41-2.01; TT vs. TC: OR 1.18, 95% CI=1.01‑1.38; dominant model: OR 0.72, 95% CI=0.61-0.86). Taking into account the effect of ethnicity, further stratified analyses were performed. In the subgroup analysis, the same association was identified in Caucasian (TT vs. CC: OR 1.45, 95% CI=1.13-1.85) and Asian (TT vs. CC: OR 1.99, 95% CI=1.53‑2.60; TT vs. TC: OR 1.33, 95% CI=1.16-1.52; dominant model: OR 0.64, 95% CI=0.56-0.72; recessive model: OR 1.77, 95% CI=1.37-2.29) populations. The meta-analysis results demonstrated that the +104T/C polymorphism in the 5'-UTR of GDF5 is associated with risk of knee osteoarthritis.

Association between the +104T/C polymorphism in the 5′UTR of GDF5 and susceptibility to knee osteoarthritis: A meta-analysis