Matrix Metalloproteinase-9 rs17576 Gene Polymorphism and Behçet's Disease: Is There an Association?

Immunol Invest. 2017 Jul;46(5):460-468. doi: 10.1080/08820139.2017.1296857. Epub 2017 Apr 7.

Abstract

Background: Clinical studies have reported a significant association between matrix metalloproteinases (MMP), particularly (MMP-9), and inflammatory diseases including Behçet's disease (BD).

Purpose: To study the relationship between MMP-9 rs17576 gene polymorphism and the development of BD, and its relation to disease activity among Egyptian patients.

Methods: A total of 100 BD patients and 100 healthy control volunteers were genotyped for MMP-9 rs17576 polymorphism with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), followed by the confirmation of our results in random subgroups using direct DNA sequencing technique.

Results: The frequency of the GG genotype and G allele was significantly higher in BD patients as compared to the normal controls (p = 0.011, OR 8.61; p = 0.03, OR 1.65, respectively). There was no significant association between the MMP-9 rs17576 polymorphism and the clinical outcomes of BD.

Conclusion: our study suggests a significant association of the MMP-9 rs17576 A/G polymorphism with increased risk of BD development in Egyptian patients.

Keywords: Behçet’s disease; MMP-9 rs17576; gene polymorphism; matrix metalloproteinase.

MeSH terms

  • Adult
  • Alleles
  • Base Sequence
  • Behcet Syndrome / diagnosis
  • Behcet Syndrome / genetics*
  • Behcet Syndrome / pathology
  • Case-Control Studies
  • Egypt
  • Female
  • Gene Expression
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Matrix Metalloproteinase 9 / genetics*
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide*
  • Promoter Regions, Genetic
  • Risk
  • Sequence Analysis, DNA

Substances

  • MMP9 protein, human
  • Matrix Metalloproteinase 9