Cytokine gene polymorphisms in endemic pemphigus foliaceus: A possible role for IL6 variants

Noemi Farah Pereira, John A. Hansen, Ming Tseh Lin, Valéria Maria Munhoz Sperandio Roxo, Karin Braun, Maria Luiza Petzl-Erler

Research output: Contribution to journalArticlepeer-review

28 Scopus citations


Endemic pemphigus foliaceus (EPF) is a complex autoimmune disease characterized by the presence of antibodies against desmoglein 1, which lead to the loss of adhesion among keratinocytes (acantholysis). Variants of HLA class II genes have been the only genetic factors found to modulate susceptibility to EPF. This study aims at investigating the influence of cytokine genetic variants in the pathogenesis of EPF, since they may affect the expression levels of these immunomodulatory molecules. The sample included 168 patients and 189 controls and was comprised of mostly Caucasoids and Mulattos. The approach consisted of a case-control association study and the alleles were identified by mismatched PCR-RFLP. No associations were found with variants of IL1A, IL1B, IL1RN, IL4R and IL10. There was a weak negative association with the haplotype -1082G -592C (OR = 0.49) of the IL10 gene in Mulattos. In regard to polymorphism -590 of the IL4 gene, a positive association with the T/T genotype (OR = 2.71) and a negative association with the C variant (OR = 0.37) were found. Associations with IL6 -174 variants suggest that the C/C genotype has a protective effect (OR = 0.13) while carriers of the G allele are more susceptible (OR = 7.66) to EPF.

Original languageEnglish (US)
Pages (from-to)233-241
Number of pages9
Issue number6
StatePublished - Dec 21 2004
Externally publishedYes


  • Association
  • Cytokines
  • IL6
  • Pemphigus
  • Polymorphism

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology
  • Biochemistry
  • Molecular Biology
  • Hematology


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