Vol.23 No.1

Original Article

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

Authors

Munis Dundar1 , Aslihan Kiraz2 , Burhan Balta1 , Elif Funda Emirogullari1 , Gokmen Zararsiz3 , Alper Yurci4 , Duran Aslan5 , Mevlut Baskol4

  • Medical Faculty, Department of Medical Genetics, Erciyes University, Melikgazi, Kayseri, 38039, Kayseri, Turkey
  • Department of Medical Genetics, Maternity and Children Hospital, Mersin, Turkey
  • Department of Biostatistics, Faculty of Medicine, Erciyes University, Melikgazi, Kayseri, Turkey
  • Department of Gastroenterology, Faculty of Medicine, Erciyes University, Melikgazi, Kayseri, Turkey
  • Department of Pediatrics, Faculty of Medicine, Erciyes University, Melikgazi, Kayseri, Turkey
Received:

12 January 2012

Accepted:

22 March 2012

Published online:

27 June 2012

Full Text

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Abstract

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.

Key words

Cytokine - Familial Mediterranean fever - PAI-1 - Polymorphism - TNF-α