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Wjst, M. ; Lichtner, P. ; Meitinger, T. ; Grimbacher, B.*

STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families.

Eur. J. Hum. Genet. 17, 352-356 (2009)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
Mutations in STAT3 (signal transducer and activator of transcription 3) have recently been found to cause the hyper-IgE syndrome (HIES) - a rare immunodeficiency syndrome including complex somatic features. We now tested whether STAT3 mutations or single-nucleotide polymorphisms (SNPs) within STAT3 may be responsible for increased IgE levels in asthmatic children. We genotyped DNA samples from 918 individuals of 217 core families by MALDI-TOF mass spectrometry. SNPs were selected from previous reports, by functional relevance and haplotype-tagging capacity. In 24 assays, including the recently described HIES mutations, no variant was detected. In another 27 SNP assays, there was no association of any STAT3 variant with asthma, allergic rhinitis or eczema. In addition, neither total and specific IgE and eosinophil count nor any lung function parameter showed any significant association. When combining high eosinophil counts and high total IgE levels to an HIES-like trait, four SNPs in the 5'-UTR of STAT3 were slightly overtransmitted. A minor fraction of asthmatic children may possibly have an alternate STAT3 promoter architecture influencing joined IgE and eosinophil upregulation. While an overall effect of STAT3 mutations on serum IgE is unlikely in asthma children.European Journal of Human Genetics advance online publication.
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Publication type Article: Journal article
Document type Scientific Article
Keywords asthma; allergy; IgE; STAT3; SNP; mutation
Language english
Publication Year 2009
HGF-reported in Year 2008
ISSN (print) / ISBN 1018-4813
e-ISSN 1476-5438
Journal European Journal of Human Genetics
Quellenangaben Volume: 17, Issue: 3, Pages: 352-356 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Reviewing status Peer reviewed
Institute(s) Institute of Lung Health and Immunity (LHI)
Institute of Human Genetics (IHG)
POF-Topic(s) 30202 - Environmental Health
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Lung Research
Genetics and Epidemiology
PSP Element(s) G-505000-003
G-500700-001
PubMed ID 18841165
DOI 10.1038/ejhg.2008.169
Scopus ID 60749113901
Erfassungsdatum 2008-11-24
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