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Updated: Mar 21, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
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Analysis of MMP2-1306C/T and TIMP2G-418C polymorphisms with relapsing remitting multiple sclerosis

Dürdane Aksoy1, Ömer Ateş2, Semiha Kurt1

  • 1Faculty of Medicine, Department of Neurology, Gaziosmanpasa University, Tokat, Turkey.

Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research
|May 14, 2016
PubMed
Abstract

Insights

Genetic variants in Matrix metalloproteinase (MMP)-2 are associated with an increased risk of developing relapsing remitting multiple sclerosis (RRMS). MMP2-1306 C/T polymorphism may play a role in MS pathogenesis.

Area of Science:

  • Neuroimmunology
  • Genetics
  • Biochemistry

Background:

  • Multiple sclerosis (MS) is an autoimmune inflammatory disease affecting myelin and the blood-brain barrier.
  • Matrix metalloproteinases (MMPs) and tissue inhibitor metalloproteinases (TIMPs) are implicated in MS pathology.
  • The genetic roles of MMP2-1306 C/T and TIMP2-418 G/C variants in MS remain uninvestigated.

Purpose of the Study:

  • To investigate the association between MMP2-1306 C/T and TIMP2-418 G/C gene variants and the risk of developing relapsing remitting multiple sclerosis (RRMS).

Main Methods:

  • Genotyping of MMP2-1306 C/T and TIMP2-418 G/C polymorphisms using real-time PCR.
  • Analysis of 102 RRMS patients and 102 healthy controls.
  • DNA extraction from peripheral leukocytes.

Main Results:

  • Significant differences in MMP2-1306 C/T genotype (CT, TT) and T allele frequencies were observed between RRMS patients and controls (p<0.0001).
  • No significant differences were found for TIMP2-418 G/C polymorphisms between the groups.

Conclusions:

  • The MMP2-1306 C/T polymorphism is associated with an increased risk of RRMS.
  • These findings suggest a potential role for MMP2 in the pathogenesis of MS, particularly during the inflammatory stage.
Keywords:
Demyelinating DiseasesMetalloproteasesPolymorphism, Genetic

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