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

Antonella La Russa; Rita Cittadella; Elvira Valeria De Marco; Paola Valentino; Virginia Andreoli; Francesca Trecroci; Valeria Latorre; Antonio Gambardella; Aldo Quattrone

doi:10.1016/j.jneuroim.2010.04.016

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

J Neuroimmunol. 2010 Aug 25;225(1-2):175-9. doi: 10.1016/j.jneuroim.2010.04.016. Epub 2010 May 14.

Authors

Antonella La Russa¹, Rita Cittadella, Elvira Valeria De Marco, Paola Valentino, Virginia Andreoli, Francesca Trecroci, Valeria Latorre, Antonio Gambardella, Aldo Quattrone

Affiliation

¹ Institute of Neurological Sciences, National Research Council, Cosenza, Italy.

PMID: 20471697
DOI: 10.1016/j.jneuroim.2010.04.016

Abstract

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)(<or=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.

MeSH terms

Adult
Case-Control Studies
Chi-Square Distribution
Female
Gene Frequency
Genetic Predisposition to Disease / genetics*
Genotype
Humans
Italy
Male
Matrix Metalloproteinase 9 / genetics*
Middle Aged
Multiple Sclerosis / etiology
Multiple Sclerosis / genetics*
Polymorphism, Single Nucleotide / genetics*

Substances

Matrix Metalloproteinase 9