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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
DC Field | Value | Language |
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dc.contributor.author | Kim, Y. K. | - |
dc.contributor.author | Park, H. W. | - |
dc.contributor.author | Yang, J. S. | - |
dc.contributor.author | Oh, S. Y. | - |
dc.contributor.author | Chang, Y. S. | - |
dc.contributor.author | Shin, E. S. | - |
dc.contributor.author | Lee, J. E. | - |
dc.contributor.author | Kim, S. | - |
dc.contributor.author | Gho, Y. S. | - |
dc.contributor.author | Cho, S. H. | - |
dc.contributor.author | Min, K. U. | - |
dc.contributor.author | Kim, Y. Y. | - |
dc.date.accessioned | 2009-12-24T09:46:26Z | - |
dc.date.available | 2009-12-24T09:46:26Z | - |
dc.date.issued | 2007-04-14 | - |
dc.identifier.citation | Clin Exp Allergy. 2007 Apr;37(4):592-8. | en |
dc.identifier.issn | 0954-7894 (Print) | - |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17430357 | - |
dc.identifier.uri | https://hdl.handle.net/10371/22536 | - |
dc.description.abstract | BACKGROUND: 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.iso | en | en |
dc.publisher | Wiley-Blackwell | en |
dc.subject | Adolescent | en |
dc.subject | Amino Acid Sequence | en |
dc.subject | Asthma/*genetics/immunology/physiopathology | en |
dc.subject | Bronchial Provocation Tests | en |
dc.subject | Child | en |
dc.subject | Cohort Studies | en |
dc.subject | Genetic Predisposition to Disease | en |
dc.subject | Genotype | en |
dc.subject | Humans | en |
dc.subject | Immunoglobulin E/blood | en |
dc.subject | Molecular Sequence Data | en |
dc.subject | Phenotype | en |
dc.subject | Receptors, IgE/*genetics | en |
dc.subject | Polymorphism, Single Nucleotide | - |
dc.title | Association and functional relevance of E237G, a polymorphism of the high-affinity immunoglobulin E-receptor beta chain gene, to airway hyper-responsiveness | en |
dc.type | Article | en |
dc.identifier.doi | 10.1111/j.1365-2222.2007.02680.x | - |
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