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

• Published in: Cytokine (Philadelphia, Pa.) Vol. 28; no. 6; pp. 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: Journal Article
• Language: English
• Published: England Elsevier Ltd 21-12-2004
• 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; IL6; Association; Cytokines; Pemphigus; Polymorphism
• ISSN: 1043-4666; 1096-0023
• DOI: 10.1016/j.cyto.2004.08.006

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.