Association of MMP-2 (⁻1306 C/T) Gene Polymorphism with Predisposition to Optic Neuritis and Optic Neuritis Together with Multiple Sclerosis

Medicina (Kaunas). 2018 May 7;54(2):29. doi: 10.3390/medicina54020029.


Background and objective: Optic neuritis (ON) is characterized by painful, usually monocular vision loss with decreased visual acuity and defects of the visual field and color vision. The etiology and pathophysiology of ON is not completely clear. It is thought that a matrix metalloproteinase 2 (MMP-2) gene plays an essential role in this autoimmune inflammatory disease. The aim of this study was to determine the relationship between the MMP-2 (-1306 C/T) rs243865 gene polymorphism and ON, and that of ON with multiple sclerosis. Materials and methods: Patients with ON/ON and multiple sclerosis and a control group of healthy individuals were enrolled in this study. The genotyping test of the MMP-2 (-1306 C/T) was carried out using a real-time polymerase chain reaction (PCR) method. Results: Analysis revealed that T allele at the MMP-2 (-1306 C/T) was less frequent in the ON group compared to the control group (14.5% vs. 23.3%, p = 0.031), and was associated with decreased likelihood of ON development (OR = 0.566; 95% CI: 0.333-0.962; p = 0.036). No significant associations were revealed while comparing the subgroups of ON patients with and without multiple sclerosis. Conclusion: The MMP-2 (-1306 C/T) gene polymorphism was found to be associated with ON development.

Keywords: gene polymorphism; matrix metalloproteinase-2; optic neuritis.

MeSH terms

  • Adult
  • Alleles*
  • Case-Control Studies
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Male
  • Matrix Metalloproteinase 2 / genetics*
  • Middle Aged
  • Multiple Sclerosis / complications
  • Multiple Sclerosis / genetics*
  • Optic Neuritis / complications
  • Optic Neuritis / genetics*
  • Polymorphism, Genetic / genetics*
  • Regression Analysis


  • MMP2 protein, human
  • Matrix Metalloproteinase 2