title: Cytokine gene polymorphisms in Tunisian endemic pemphigus foliaceus: a possible role of il-4 variants.
abstract: Polymorphism in the genes of TH2 cytokines and/or theirs receptors can influence serum cytokine levels in and the switch to the pathologic IgG4 auto-antibodies. In order to underline the role of these genes in the aethiopathogenesis of Pemphigus Foliaceus, we conduct a familial and a case control studies including 80 Tunisian patients, 147 related subjects and 160 matched healthy controls. We investigated, by PCR-RFLP technique, seven nucleotide polymorphisms: rs2243250 in promoter region of IL4 gene, rs47877948, rs3024530 and rs30246223 in the IL4R gene, rs1881457and rs205412 SNPs in IL13 gene and rs535036 in IL13RA2 gene. After Bonferroni adjustment, T allele and the TT genotype of IL4-590 were significantly increased in the PF patients group compared to healthy controls. This association was confirmed by the family study. Interestingly, the serum IL-4 levels were significantly increased in patients with the TT genotype compared to CT or CC genotypes. Interestingly, the IL4/IL13:T-A-C haplotype exhibited a significant effect on PF susceptibility. In addition, a significant gene-gene interaction between the IL4/IL4R (TACA) significantly increases in PF patients as compared to controls. These findings assess the role of the IL4/IL4R axis in the aethiopathogenesis of Tunisian endemic PF by the induction of a high transcriptional activity which could enhance the T-cell balance and inducing immunoglobulin isotype switching.
authors: Immunology Department, Habib Bourguiba University Hospital, Sfax, Tunisia. at_toumi@yahoo.fr
authors: Amina
authors: A
authors: Toumi
authors: O
authors: O
authors: Abida
authors: M
authors: M
authors: Ben Ayed
authors: A
authors: A
authors: Masmoudi
authors: H
authors: H
authors: Turki
authors: H
authors: H
authors: Masmoudi
mesh_terms: D000328:Adult; D019353:Endemic Diseases; D004843:Epistasis, Genetic; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D018793:Interleukin-13 / Q000235:genetics*; D015847:Interleukin-4 / Q000097:blood / Q000235:genetics*; D015810:Linkage Disequilibrium; D008297:Male; D010392:Pemphigus / Q000453:epidemiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D053660:Receptors, Interleukin-13 / Q000235:genetics*; D019948:Receptors, Interleukin-4 / Q000235:genetics*; D014416:Tunisia / Q000453:epidemiology
chemical_list: C508598:IL4 protein, human; D018793:Interleukin-13; D053660:Receptors, Interleukin-13; D019948:Receptors, Interleukin-4; D015847:Interleukin-4