title: Analysis of MMP2-1306C/T and TIMP2G-418C polymorphisms with relapsing remitting multiple sclerosis.
abstract: Multiple sclerosis (MS) is an autoimmune, inflammatory disease characterized by loss of myelin forming oligodendrocytes and changes in the blood-brain barrier. Matrix metalloproteinase (MMP) -2 and -9 are known to cause disruption of the blood-brain barrier, remodeling of the basal lamina, regeneration of axons, and remyelination in MS. The imbalance between MMPs and tissue inhibitor metalloproteinases (TIMPs) may lead to the emergence of pathological processes such as MS. The roles of MMP2-1306 C/T and TIMP2-418 G/C genetic variants in MS have not been studied before. We aimed to investigate whether MMP2-1306C/T and TIMP2-418 G/C gene variants are risk factors for patients with relapsing remitting multiple sclerosis (RRMS).
  
  
  
  The study included 102 RRMS and 102 healthy controls. Genomic DNA was extracted from peripheral leukocytes from ethylenediaminetetraacetic acid anticoagulated blood. Genotyping of the MMP2-1306C/T and TIMP2G-418C polymorphisms was performed using real-time PCR.
  
  
  
  There were significant differences in terms of distribution of genotype (MMP2-1306- CT, TT) and T allele frequency between the patients with RRMS and the control group (p<0.0001; p<0.0001). The groups were not different in terms of TIMP2G-418C polymorphisms.
  
  
  
  In the RRMS group, the genotype and allele frequencies of MMP2-1306C/T polymorphism showed significant differences from the controls. These results indicate that MMP2 might play a role in the pathogenesis of MS even during the inflammation stage.
authors.affiliation: Faculty of Medicine, Department of Neurology, Gaziosmanpasa University, Tokat, Turkey.
authors.forename: Dürdane
authors.initials: D
authors.lastname: Aksoy
authors.affiliation: Faculty of Medicine, Department of Medical Biology and Genetics, Gaziosmanpasa University, Tokat, Turkey.
authors.forename: Ömer
authors.initials: Ö
authors.lastname: Ateş
authors.affiliation: Faculty of Medicine, Department of Neurology, Gaziosmanpasa University, Tokat, Turkey.
authors.forename: Semiha
authors.initials: S
authors.lastname: Kurt
authors.affiliation: Faculty of Medicine, Department of Neurology, Gaziosmanpasa University, Tokat, Turkey.
authors.forename: Betül
authors.initials: B
authors.lastname: Çevik
authors.affiliation: Faculty of Medicine, Department of Neurology, Gaziosmanpasa University, Tokat, Turkey.
authors.forename: Orhan
authors.initials: O
authors.lastname: Sümbül
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D020778:Matrix Metalloproteinase 2 / Q000235:genetics*; D020529:Multiple Sclerosis, Relapsing-Remitting / Q000201:enzymology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D019716:Tissue Inhibitor of Metalloproteinase-2 / Q000235:genetics*
chemical_list: C560823:TIMP2 protein, human; D019716:Tissue Inhibitor of Metalloproteinase-2; C522361:MMP2 protein, human; D020778:Matrix Metalloproteinase 2
keywords: Demyelinating Diseases; Metalloproteases; Polymorphism, Genetic