Interleukin‐4RA gene polymorphism is associated with oral mucous membrane pemphigoid. (5th April 2013) - Carrozzo, M
Abstract Objective The aim of this study was to analyse whether the polymorphisms of several pro‐ and anti‐inflammatory cytokines may influence the susceptibility to predominantly oral Mucous membrane pemphigoid (MMP) in a Northern Italian population. Material and Methods DNA was obtained from 41 MMP patients (29 with exclusively oral pemphigoid [OP]) and 140 unrelated bone marrow donors. Thirteen cytokine genes with 22 single‐nucleotide polymorphisms (SNP) were studied by a sequence‐specific PCR assay. Results There was no significant difference between the patients taken together and healthy controls for any cytokine gene polymorphism studied. However, the allele A of the IL‐4 receptor A (IL‐4RA) was significantly more frequent in OP than controls (P < 0.05), causing an increased frequency of genotype A/A in OP patients (89.7 vs 67.9, odds ratio: 4.11, 95% confidence intervals 1.18–14.28, P = 0.023, Pc = 0.046). Conclusion IL‐4RA‐1902 A/A genotype has been associated with a reduced response to IL‐4 and has been found in 90% OP patient. Giving the supposed importance of IL‐4 in MMP fibrotic process, our results can partially explain the low likelihood of scarring in OP patients.