Osteoarthritis (OA) is a degenerative joint disorder resulting in destruction of articular cartilage, osteophyte formation, and subchondral bone sclerosis. One of the mechanisms of cartilage degradation in osteoarthritis is enzymatic proteolysis of the extracellular matrix by metalloproteinases. The aim of this study was to investigate whether polymorphisms in the promoter of matrix metalloproteinase-1 (MMP-1), MMP-3 and MMP-9 genes were associated with susceptibility to knee osteoarthritis in the Han Chinese population. We performed a case control study. Three hundred cases comprised patients with a radiologic scoring (Kellgren-Lawrence score) ≧2 and 288 controls with a radiologic scoring (K-L score) <2. DNA was extracted from a peripheral blood sample, and the MMPs genotypes were determined by PCR-RFLP. Functional assay were performed using enzyme-linked immunosorbant assay (ELISA). The association between OA and control groups at -1,607 1G/2G (rs1799750) of MMP-1 gene polymorphism showed significant difference (P<0.05) in both populations. However, no associations were found between OA and MMP-3 -1,306 C/T (rs243865), and MMP-9 -1,562 C/T (rs3918242). There were no significant differences in serum MMP1 levels between various genotypes of 1G/2G (P>0.05). The present study showed significant association at MMP-1 promoter polymorphism (-1,607 1G/2G) and susceptibility to knee OA in the the Han Chinese population.
Disclosure: The authors declared no competing interests.