Tumor necrosis factor-α -308 G>A and interleukin-6 -174 G>C promoter polymorphisms and pemphigus

Hum Immunol. 2012 May;73(5):560-5. doi: 10.1016/j.humimm.2012.02.001. Epub 2012 Feb 10.

Abstract

The objective of this study was to analyze the possible involvement of the tumor necrosis factor (TNF)-α -308 G>A and interleukin-6 (IL-6) -174 G>C polymorphisms in the susceptibility and/or disease profile of pemphigus in Egyptian patients. Detection of TNF-α -308 G>A by amplification refractory mutation system and IL-6 -174 G>C by restriction fragment length polymorphism was performed for 70 patients and 203 controls. No significant differences were observed in the distribution of TNF-α -308 in pemphigus patients and controls. However, GA+AA genotypes were more frequent in pemphigus vulgaris (PV) patients only versus controls (p(c) = 0.046). The frequency of the C allele and CC/GC genotypes of IL-6 -174 was significantly higher in pemphigus patients and those with the 2 major clinical forms (PV and pemphigus foliaceus [PF]) compared with controls (p < 0.05). Comparison of the distribution of TNF-α -308 and IL-6 -174 variants in relation to clinical type of pemphigus (PV versus PF), activity score, recurrence, and demographic data of patients revealed no significant associations. The IL-6 -174 CC genotype represents a marker of increased susceptibility to pemphigus in Egyptian patients and GG genotype can be considered a low-risk genotype; TNF-α -308 A-containing genotypes contribute to the susceptibility to PV only.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Case-Control Studies
  • Child
  • Egypt
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Interleukin-6 / genetics*
  • Male
  • Middle Aged
  • Pemphigus / classification
  • Pemphigus / genetics*
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide*
  • Promoter Regions, Genetic
  • Tumor Necrosis Factor-alpha / genetics*

Substances

  • Interleukin-6
  • Tumor Necrosis Factor-alpha