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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| Published in: | Cytokine (Philadelphia, Pa.) Vol. 28; no. 6; pp. 233 - 241 |
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| Main Authors: | , , , , , |
| Format: | Journal Article |
| Language: | English |
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Elsevier Ltd
21-12-2004
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| 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. |
|---|---|
| AbstractList | 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. 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. |
| Author | Pereira, Noemi Farah Hansen, John A. Petzl-Erler, Maria Luiza Roxo, Valéria Maria Munhoz Sperandio Lin, Ming-Tseh Braun, Karin |
| Author_xml | – sequence: 1 givenname: Noemi Farah surname: Pereira fullname: Pereira, Noemi Farah organization: Laboratório de Genética Molecular Humana, Universidade Federal do Paraná, Curitiba, Brazil – sequence: 2 givenname: John A. surname: Hansen fullname: Hansen, John A. organization: Fred Hutchinson Cancer Research Center, Seattle, USA – sequence: 3 givenname: Ming-Tseh surname: Lin fullname: Lin, Ming-Tseh organization: Fred Hutchinson Cancer Research Center, Seattle, USA – sequence: 4 givenname: Valéria Maria Munhoz Sperandio surname: Roxo fullname: Roxo, Valéria Maria Munhoz Sperandio organization: Laboratório de Genética Molecular Humana, Universidade Federal do Paraná, Curitiba, Brazil – sequence: 5 givenname: Karin surname: Braun fullname: Braun, Karin organization: Laboratório de Genética Molecular Humana, Universidade Federal do Paraná, Curitiba, Brazil – sequence: 6 givenname: Maria Luiza surname: Petzl-Erler fullname: Petzl-Erler, Maria Luiza email: perler@ufpr.br organization: Laboratório de Genética Molecular Humana, Universidade Federal do Paraná, Curitiba, Brazil |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/15566952$$D View this record in MEDLINE/PubMed |
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| SubjectTerms | 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 |
| Title | Cytokine gene polymorphisms in endemic pemphigus foliaceus: a possible role for IL6 variants |
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