The role of TNF-α and PAI-1 gene polymorphisms in familial Mediterranean fever

Mod Rheumatol. 2013 Jan;23(1):140-5. doi: 10.1007/s10165-012-0687-9. Epub 2012 Jun 27.


Objectives: Familial Mediterranean fever (FMF) is one of the most serious inherited inflammatory disorders among Jewish, Armenian, Turkish and Arab populations. The imbalance between pro- and anti-inflammatory cytokines may play a role in its etiology. We have investigated whether tumor necrosis factor-alpha (TNF-α) and plasminogen activator inhibitor 1 (PAI-1) gene polymorphisms are associated with FMF and evaluated the relationship between these polymorphisms and genotypic manifestation of FMF.

Methods: We investigated single nucleotide polymorphisms of the TNF-α promoter at positions -308 G/A and the PAI-1 4G/5G gene polymorphism in peripheral blood leukocytes collected from 177 individuals with FMF with different genotype combinations. All of the polymorphisms of TNF-α and PAI-1 were detected by PCR and restriction fragment length polymorphism analysis.

Results: There were no association between the TNF-α/308 genotypes and mutations in FMF. In contrast, the PAI-1 4G/5G gene polymorphism may have a significant effect in FMF disease.

Conclusions: Screening with PAI-1 gene polymorphism tests may be beneficial for tracing future FMF patients. However, further investigations are needed to reach a conclusion on the association between PAI-1 polymorphisms and FMF.

MeSH terms

  • Adolescent
  • Age of Onset
  • Familial Mediterranean Fever / epidemiology
  • Familial Mediterranean Fever / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Plasminogen Activator Inhibitor 1 / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide*
  • Tumor Necrosis Factor-alpha / genetics*
  • Turkey / epidemiology
  • Young Adult


  • Plasminogen Activator Inhibitor 1
  • SERPINE1 protein, human
  • Tumor Necrosis Factor-alpha