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Tumor necrosis factor-α gene polymorphisms in FMF and their association with amyloidosis

Mortaza Bonyadi1, Salahadin Bahrami, Zohreh Jahanafrooz

  • 1Center of Excellence for Biodiversity, University of Tabriz, Tabriz, Iran. jabbarpour@tabrizu.ac.ir

Clinical and Applied Thrombosis/Hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
|May 18, 2012
PubMed

Insights

Familial Mediterranean fever (FMF) is linked to Tumor Necrosis Factor-alpha (TNF-α) gene variations. The TNF-α -308 GG genotype increases susceptibility to FMF complications like amyloidosis and arthritis.

Area of Science:

  • Immunogenetics
  • Rheumatology
  • Molecular Biology

Background:

  • Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder.
  • Tumor necrosis factor-alpha (TNF-α) is a key cytokine in immune regulation, inflammation, and apoptosis.
  • Genetic variations in TNF-α may influence FMF susceptibility and clinical manifestations.

Purpose of the Study:

  • To investigate the association between TNF-α promoter polymorphisms (-1031T/C and -308G/A) and FMF in Iranian Azeri Turks.
  • To determine if specific TNF-α genotypes correlate with FMF-related complications such as amyloidosis and arthritis.

Main Methods:

  • Case-control study involving 86 FMF patients with M694V homozygous mutation and 100 healthy controls.
  • Genotyping of TNF-α promoter -1031T/C and -308G/A polymorphisms using PCR-based methods.
  • Statistical analysis to compare genotype and allele frequencies between patients and controls, and to assess associations with clinical outcomes.

Main Results:

  • Patients with the TNF-α -308 GG genotype showed increased susceptibility to amyloidosis and arthritis (P < .05).
  • The TNF-α -308 A allele was found at a significantly lower frequency in patients with amyloidosis, suggesting a potential protective role (OR = 0.083, P = .003).
  • No significant association was found for the TNF-α -1031T/C polymorphism.

Conclusions:

  • The TNF-α -308G/A polymorphism is associated with FMF clinical manifestations, particularly amyloidosis and arthritis.
  • The GG genotype at position -308 of the TNF-α promoter may confer susceptibility to FMF complications.
  • The A allele at position -308 may offer a protective effect against amyloidosis in FMF patients, warranting further investigation.

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