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

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 susceptibilit...

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Bibliographic Details
Published in:Cytokine (Philadelphia, Pa.) Pa.), 2004-12, Vol.28 (6), p.233-241
Main Authors: Pereira, Noemi Farah, Hansen, John A., Lin, Ming-Tseh, Roxo, Valéria Maria Munhoz Sperandio, Braun, Karin, Petzl-Erler, Maria Luiza
Format: Article
Language:English
Subjects:
African Continental Ancestry Group
Association
Cytokines
European Continental Ancestry Group
Genetic Predisposition to Disease
Humans
IL6
Interleukin-1 - genetics
Interleukin-1 - metabolism
Interleukin-10 - genetics
Interleukin-10 - metabolism
Interleukin-4 - genetics
Interleukin-4 - metabolism
Interleukin-6 - genetics
Interleukin-6 - metabolism
Pemphigus
Pemphigus - genetics
Pemphigus - metabolism
Polymorphism
Polymorphism, Genetic
Receptors, Interleukin-4 - genetics
Receptors, Interleukin-4 - metabolism
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Summary: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.
ISSN:1043-4666
1096-0023
DOI:10.1016/j.cyto.2004.08.006