title: A comprehensive analysis of interleukin-4 receptor polymorphisms and their association with atopy and IgE regulation in childhood.
abstract: BACKGROUND
  The interleukin (IL) 4/IL13 pathway is involved in the regulation of IgE production associated with atopic diseases. Numerous polymorphisms have been identified in the coding region of the IL4 receptor alpha chain (IL4Ra) and previous association studies have shown conflicting results. Based on their putative functional role, polymorphisms A148G, T1432C and A1652G, located in the coding region of IL4Ra, were selected for association and haplotype studies in a large German population sample (n = 1,120).
  
  
  METHODS
  Genotyping was performed using allele-specific PCR and restriction-enzyme-based assays. Haplotypes were estimated, and population-derived IgE percentiles (50% IgE >60 IU/ml, 66% IgE >115 IU/ml and 90% IgE >457 IU/ml) were calculated as outcome variables in a haplotype trend regression analysis.
  
  
  RESULTS
  In our population, only polymorphism T1432C showed a trend for a protective effect against atopic rhinitis (odds ratio, OR: 0.52, 95% confidence interval, CI: 0.26-1.02, p = 0.05). When haplotypes were calculated, one haplotype was significantly associated with elevated serum IgE levels at the 50th percentile (OR 1.60, 95% CI 1.08-2.37, p = 0.02).
  
  
  CONCLUSIONS
  These data indicate that IL4Ra polymorphisms, although suggested to be functionally relevant by in vitro studies, have only a minor influence on IgE regulation in our large population sample.
authors.affiliation: University Children's Hospital Munich, Munich, Germany.
authors.forename: Bernd
authors.initials: B
authors.lastname: Woitsch
authors.forename: David
authors.initials: D
authors.lastname: Carr
authors.forename: Daniel
authors.initials: D
authors.lastname: Stachel
authors.forename: Irene
authors.initials: I
authors.lastname: Schmid
authors.forename: Stephan K
authors.initials: SK
authors.lastname: Weiland
authors.forename: Christian
authors.initials: C
authors.lastname: Fritzsch
authors.forename: Erika
authors.initials: E
authors.lastname: von Mutius
authors.forename: Michael
authors.initials: M
authors.lastname: Kabesch
mesh_terms: D001249:Asthma / Q000235:genetics / Q000276:immunology*; D002648:Child; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005858:Germany; D006239:Haplotypes; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood / Q000276:immunology*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D019948:Receptors, Interleukin-4 / Q000235:genetics* / Q000276:immunology*; D017422:Sequence Analysis, DNA; D012882:Skin Tests
chemical_list: D019948:Receptors, Interleukin-4; D007073:Immunoglobulin E; D004247:DNA