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

  • Original Article
  • Published:
Modern Rheumatology

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.

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Conflict of interest

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Authors and Affiliations

  1. Medical Faculty, Department of Medical Genetics, Erciyes University, Melikgazi, Kayseri, 38039, Kayseri, Turkey

    Munis Dundar, Burhan Balta & Elif Funda Emirogullari

  2. Department of Medical Genetics, Maternity and Children Hospital, Mersin, Turkey

    Aslihan Kiraz

  3. Department of Biostatistics, Faculty of Medicine, Erciyes University, Melikgazi, Kayseri, Turkey

    Gokmen Zararsiz

  4. Department of Gastroenterology, Faculty of Medicine, Erciyes University, Melikgazi, Kayseri, Turkey

    Alper Yurci & Mevlut Baskol

  5. Department of Pediatrics, Faculty of Medicine, Erciyes University, Melikgazi, Kayseri, Turkey

    Duran Aslan

Authors
  1. Munis Dundar
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  2. Aslihan Kiraz
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  3. Burhan Balta
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  4. Elif Funda Emirogullari
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  5. Gokmen Zararsiz
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  6. Alper Yurci
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  7. Duran Aslan
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  8. Mevlut Baskol
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Correspondence to Munis Dundar.

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Dundar, M., Kiraz, A., Balta, B. et al. The role of TNF-α and PAI-1 gene polymorphisms in familial Mediterranean fever. Mod Rheumatol 23, 140–145 (2013). https://doi.org/10.1007/s10165-012-0687-9

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  • DOI: https://doi.org/10.1007/s10165-012-0687-9

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