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Association and functional relevance of E237G, a polymorphism of the high-affinity immunoglobulin E-receptor beta chain gene, to airway hyper-responsiveness

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dc.contributor.authorKim, Y. K.-
dc.contributor.authorPark, H. W.-
dc.contributor.authorYang, J. S.-
dc.contributor.authorOh, S. Y.-
dc.contributor.authorChang, Y. S.-
dc.contributor.authorShin, E. S.-
dc.contributor.authorLee, J. E.-
dc.contributor.authorKim, S.-
dc.contributor.authorGho, Y. S.-
dc.contributor.authorCho, S. H.-
dc.contributor.authorMin, K. U.-
dc.contributor.authorKim, Y. Y.-
dc.date.accessioned2009-12-24T09:46:26Z-
dc.date.available2009-12-24T09:46:26Z-
dc.date.issued2007-04-14-
dc.identifier.citationClin Exp Allergy. 2007 Apr;37(4):592-8.en
dc.identifier.issn0954-7894 (Print)-
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17430357-
dc.identifier.urihttps://hdl.handle.net/10371/22536-
dc.description.abstractBACKGROUND: The hyper-sensitivity reaction of IgE, with its high-affinity receptors (FcepsilonRI), is central to the phenomenon of atopic diseases. OBJECTIVE: To evaluate the genetic effects of non-synonymous single-nucleotide polymorphisms (SNPs) of FcepsilonRI on intermediate phenotypes of asthma, i.e. atopy and airway hyper-responsiveness (AHR), in the Korean general population. SUBJECTS AND METHODS: Atopy and AHR were evaluated in a cohort of 2055 subjects, aged 10-18 years, using skin prick tests (SPTs) for common aeroallergens and total serum IgE and methacholine bronchial provocation tests. All FcepsilonRI-alpha, FcepsilonRI-beta, and FcepsilonRI-gamma gene exons of 24 healthy subjects were sequenced to locate informative non-synonymous SNPs (minor allele frequency>2%). Informative SNPs were then scored, using the high-throughput single base extension method. Relative risk (RR) was determined by multiple logistic regression analysis, after adjusting for confounding factors. The functional relevance of non-synonymous SNPs was analysed using the sorting intolerant from tolerant (SIFT) program. RESULTS: The SNP search found only one informative non-synonymous SNP in FcepsilonRI-beta: E237G (minor allele frequency=0.21). The positive rate of AHR was lower among subjects with the 237*E allele than among those with 237*G [RR (95% confidence interval)=0.41 (0.19-0.89); P=0.01]. However, the E237G substitution was not associated with either a positive SPT response or total serum IgE levels. Sequence evolution analysis predicted that the E237G variation is an intolerant amino acid substitution, with functional importance. CONCLUSION: In the Korean general population, AHR is significantly associated with the E237G polymorphism of FcepsilonRI-beta, which results in an intolerant amino acid substitution.en
dc.language.isoenen
dc.publisherWiley-Blackwellen
dc.subjectAdolescenten
dc.subjectAmino Acid Sequenceen
dc.subjectAsthma/*genetics/immunology/physiopathologyen
dc.subjectBronchial Provocation Testsen
dc.subjectChilden
dc.subjectCohort Studiesen
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectGenotypeen
dc.subjectHumansen
dc.subjectImmunoglobulin E/blooden
dc.subjectMolecular Sequence Dataen
dc.subjectPhenotypeen
dc.subjectReceptors, IgE/*geneticsen
dc.subjectPolymorphism, Single Nucleotide-
dc.titleAssociation and functional relevance of E237G, a polymorphism of the high-affinity immunoglobulin E-receptor beta chain gene, to airway hyper-responsivenessen
dc.typeArticleen
dc.identifier.doi10.1111/j.1365-2222.2007.02680.x-
Appears in Collections:
College of Medicine/School of Medicine (의과대학/대학원)Immunology (면역학전공)Journal Papers (저널논문_면역학전공)
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