title: Association of FcepsilonR1-beta polymorphisms with asthma and associated traits in Australian asthmatic families.
abstract: BACKGROUND
  Asthma is a genetically complex disease, and is characterized by elevated serum immunoglobulin E (IgE) levels, elevated blood eosinophil counts and increased airway responsiveness. Polymorphisms in the beta subunit of the high affinity receptor for IgE (FcepsilonR1-beta) have been previously associated with these phenotypes and with an increased risk of asthma.
  
  
  OBJECTIVE
  To investigate the association of all known bi-allelic polymorphisms in FcepsilonR1-beta to asthma and quantitative traits associated with asthma in a selected sample of Australian asthmatic children and their nuclear families.
  
  
  METHODS
  Australian Caucasian nuclear families (n = 134 subjects) were recruited on the basis of a child proband with current, severe, symptomatic asthma. The quantitative traits assessed included serum levels of total IgE and specific IgE to house dust mite and mixed grass, blood eosinophil counts and the dose-response slope of the forced expiratory volume in 1 s to histamine provocation.
  
  
  RESULTS
  Neither the Leu181 nor the E237G mutations were detected in this population. Allele B of RsaI intron 2 (RsaI_in2*B) was significantly associated with physician-diagnosed asthma (ever) (P = 0.002). Alleles of both the RsaI_in2 and RsaI exon 7 (RsaI_ex7) polymorphisms were significantly associated with loge total serum IgE levels and the combined RAST index. RsaI_ex7 was also associated with loge blood eosinophil counts. These associations were independent of age, sex and familial correlations.
  
  
  CONCLUSIONS
  This study supports a role for the FcepsilonR1-beta gene or a nearby gene in the pathogenesis of asthma.
authors.affiliation: Department of Paediatrics, University of Western Australia, Perth, Australia.
authors.forename: L J
authors.initials: LJ
authors.lastname: Palmer
authors.forename: P J
authors.initials: PJ
authors.lastname: Rye
authors.forename: N A
authors.initials: NA
authors.lastname: Gibson
authors.forename: M F
authors.initials: MF
authors.lastname: Moffatt
authors.forename: J
authors.initials: J
authors.lastname: Goldblatt
authors.forename: P R
authors.initials: PR
authors.lastname: Burton
authors.forename: W O
authors.initials: WO
authors.lastname: Cookson
authors.forename: P N
authors.initials: PN
authors.lastname: Lesouëf
mesh_terms: D000293:Adolescent; D000328:Adult; D001249:Asthma / Q000235:genetics* / Q000503:physiopathology; D001315:Australia; D001772:Blood Cell Count; D016535:Bronchial Hyperreactivity; D002648:Child; D004804:Eosinophils; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood; D011110:Polymorphism, Genetic; D011852:Radioallergosorbent Test; D017455:Receptors, IgE / Q000235:genetics*
chemical_list: D017455:Receptors, IgE; D007073:Immunoglobulin E