title: Cytokine gene polymorphisms in endemic pemphigus foliaceus: a possible role for IL6 variants.
abstract: 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.
authors.affiliation: Laboratório de Genética Molecular Humana, Universidade Federal do Paraná, Curitiba, Brazil.
authors.forename: Noemi Farah
authors.initials: NF
authors.lastname: Pereira
authors.forename: John A
authors.initials: JA
authors.lastname: Hansen
authors.forename: Ming-Tseh
authors.initials: MT
authors.lastname: Lin
authors.forename: Valéria Maria Munhoz Sperandio
authors.initials: VM
authors.lastname: Roxo
authors.forename: Karin
authors.initials: K
authors.lastname: Braun
authors.forename: Maria Luiza
authors.initials: ML
authors.lastname: Petzl-Erler
mesh_terms: D044383:Black People; D020022:Genetic Predisposition to Disease; D006801:Humans; D007375:Interleukin-1 / Q000235:genetics / Q000378:metabolism; D016753:Interleukin-10 / Q000235:genetics / Q000378:metabolism; D015847:Interleukin-4 / Q000235:genetics / Q000378:metabolism; D015850:Interleukin-6 / Q000235:genetics* / Q000378:metabolism; D010392:Pemphigus / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic; D019948:Receptors, Interleukin-4 / Q000235:genetics / Q000378:metabolism; D044465:White People
chemical_list: D007375:Interleukin-1; D015850:Interleukin-6; D019948:Receptors, Interleukin-4; D016753:Interleukin-10; D015847:Interleukin-4