title: Interleukin-4RA gene polymorphism is associated with oral mucous membrane pemphigoid.
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.
  
  
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Oral Medicine, Center for Oral Health Research, School of Dental Sciences, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: M
authors.initials: M
authors.lastname: Carrozzo
authors.forename: E
authors.initials: E
authors.lastname: Dametto
authors.forename: M E
authors.initials: ME
authors.lastname: Fasano
authors.forename: R
authors.initials: R
authors.lastname: Broccoletti
authors.forename: M
authors.initials: M
authors.lastname: Carbone
authors.forename: S
authors.initials: S
authors.lastname: Rendine
authors.forename: A
authors.initials: A
authors.lastname: Amoroso
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016207:Cytokines / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009059:Mouth Diseases / Q000235:genetics*; D009061:Mouth Mucosa; D010391:Pemphigoid, Bullous / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D019948:Receptors, Interleukin-4 / Q000235:genetics*; D055815:Young Adult
chemical_list: D016207:Cytokines; D019948:Receptors, Interleukin-4
keywords: cytokine polymorphisms; interleukin-4; mucous membrane pemphigoid; oral pemphigoid; scarring