Variation of matrix metalloproteinase 1 and 3 haplotypes and their serum levels in patients with rheumatoid arthritis and osteoarthritis.

The matrix metalloproteinases 1 and 3 (MMP1 and MMP3) are thought to be important in destructive joint changes seen in rheumatoid arthritis (RA) and osteoarthritis (OA) diseases. The aim of this study was to analyze whether functional polymorphisms in the promoter region of the MMP1 and MMP3 genes were associated with RA and OA. The MMP1 (-1607 1G/2G) and MMP3 (-1171 5A/6A) polymorphisms were screened by polymerase chain reaction-restriction fragment length polymorphism in 100 patients with (RA), 100 patients with (OA), and 100 controls. Serum MMP1 and MMP3 levels were measured by enzyme-linked immunosorbent assay. The results reported a significant difference between patients with OA and controls regarding allele distributions of MMP1 polymorphism, but not between patients with RA and controls. For MMP3 polymorphism, the 6A/6A genotype was significantly more frequent in patients with RA and OA than in controls. The haplotype 2G-6A, which carries the abnormal alleles, showed higher frequencies in the patients with RA and OA than in controls (28%, 30% and 8%, respectively). There were no significant differences in serum MMP1 and MMP3 levels between all studied groups. In conclusion, the MMP1 and MMP3 haplotypes may represent genetic determinants for RA and OA in the Egyptian population. The results suggest that MMP polymorphism genotypes may be more useful in predicting joint damage than measurement of serum concentrations of MMP1 and MMP3. Moreover, MMP1 and MMP3 polymorphisms may predict the activity and severity of these diseases.