Matrix metalloproteases 9 rs3918242 gene polymorphism and serum vit D in MS Egyptian patients

Abstract The high frequency of MS, especially among women in the Middle East countries as well as the high cost of caring has become a truly public concern. T-cell trafficking across the interrupted BBB, which constitutes a core immunological feature of the disease, needs activation of matrix metallo-proteinases. MMP-9 (which represents the largest and most complex of MMP family) was a subject for functional polymorphism of rs3918242 gene, but with controversial results among different MS ethnic groups. In this study, we evaluated the role of MMP9 genotypes of rs3918242 (−1562 C/T) in MS susceptibility and disability among patients using PCR-RFLP. Vitamin D assessment using ELISA, as an indirect indicator of MMP activity and proinflammatory status, was also measured to find out its relation to this polymorphism. Results: CT, CT+TT genotypes and T allele carriers were found most among MS patients as compared to healthy controls with a P value of 0.009 CI (1.216- 4.346), suggesting higher susceptibility risk for the disease. Also a significant decrease of Vitamin D in MS group (P