PMID- 10520086
OWN - NLM
STAT- MEDLINE
DCOM- 19991210
LR  - 20190831
IS  - 0954-7894 (Print)
IS  - 0954-7894 (Linking)
VI  - 29
IP  - 11
DP  - 1999 Nov
TI  - Association of FcepsilonR1-beta polymorphisms with asthma and associated traits 
      in Australian asthmatic families.
PG  - 1555-62
AB  - 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. CONCLUSION: This study supports a role for the 
      FcepsilonR1-beta gene or a nearby gene in the pathogenesis of asthma.
FAU - Palmer, L J
AU  - Palmer LJ
AD  - Department of Paediatrics, University of Western Australia, Perth, Australia.
FAU - Rye, P J
AU  - Rye PJ
FAU - Gibson, N A
AU  - Gibson NA
FAU - Moffatt, M F
AU  - Moffatt MF
FAU - Goldblatt, J
AU  - Goldblatt J
FAU - Burton, P R
AU  - Burton PR
FAU - Cookson, W O
AU  - Cookson WO
FAU - Lesouef, P N
AU  - Lesouef PN
LA  - eng
GR  - Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Clin Exp Allergy
JT  - Clinical and experimental allergy : journal of the British Society for Allergy 
      and Clinical Immunology
JID - 8906443
RN  - 0 (Receptors, IgE)
RN  - 37341-29-0 (Immunoglobulin E)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Asthma/*genetics/physiopathology
MH  - Australia
MH  - Blood Cell Count
MH  - Bronchial Hyperreactivity
MH  - Child
MH  - Eosinophils
MH  - Humans
MH  - Immunoglobulin E/blood
MH  - *Polymorphism, Genetic
MH  - Radioallergosorbent Test
MH  - Receptors, IgE/*genetics
EDAT- 1999/10/16 00:00
MHDA- 1999/10/16 00:01
CRDT- 1999/10/16 00:00
PHST- 1999/10/16 00:00 [pubmed]
PHST- 1999/10/16 00:01 [medline]
PHST- 1999/10/16 00:00 [entrez]
AID - cea718 [pii]
AID - 10.1046/j.1365-2222.1999.00718.x [doi]
PST - ppublish
SO  - Clin Exp Allergy. 1999 Nov;29(11):1555-62. doi: 10.1046/j.1365-2222.1999.00718.x.