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 < 0.001) were detected. Though this genetic polymorphism was found insignificantly among different clinical measures of MS disease severity, vitamin D level was significantly lower in patients with RRMS and for those with high disabilities. This low level was not influenced by the −1562 C/T polymorphism. In conclusion, MMP9 genotypes of rs3918242 have a role in MS susceptibility, but not with severity. Vitamin D deficiency was also a predominant feature among all MS patients irrespective of their MMP9 genotypes of rs3918242, implying its association with MS activity in different courses of the disease. The gentic susceptibility for MS disease is growing and needs to be studied well in different ethnic groups for their important diagnostic and therapeutic implications.