Single nucleotide polymorphism in the MMP-9 gene is associated with susceptibility to develop multiple sclerosis in an Italian case-control study

To investigate the role of the matrix metalloproteinase-9 gene (MMP-9) in multiple sclerosis (MS), we analyzed the functional − 1562C/T and − 90 (CA)n repeat polymorphisms in 243 Italian patients with MS and 173 healthy controls. A significant increase of the − 1562T allele carriers was found in patients with MS compared to controls. Moreover, haplotype analysis showed that the haplotype formed by the − 1562T allele and the L allele ((CA)≤ 20) was over-represented in patients with MS versus controls. These results suggest that a genetic polymorphism of the MMP-9 promoter region may influence the susceptibility to MS.