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Pinto, L.A.* ; Michel, S.* ; Klopp, N. ; Vogelberg, C.* ; von Berg, A.* ; Bufe, A.* ; Heinzmann, A.* ; Laub, O.* ; Simma, B.* ; Frischer, T.* ; Genuneit, J.* ; Gorski, M.* ; Illig, T. ; Kabesch, M.*

Polymorphisms in the IRF-4 gene, asthma and recurrent bronchitis in children.

Clin. Exp. Allergy 43, 1152-1159 (2013)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
BACKGROUND: Interferon-regulatory factors (IRFs) play a crucial role in immunity, not only influencing interferon expression but also T cell differentiation. IRF-4 was only recently recognized as a further major player in T cell differentiation. OBJECTIVE: As IRF-1 polymorphisms were shown to be associated with atopy and allergy, we comprehensively investigated effects of IRF-4 variants on allergy, asthma and related phenotypes in German children. METHODS: Fifteen tagging single nucleotide polymorphisms (SNPs) in the IRF-4 gene were genotyped by MALDI-TOF MS in the cross-sectional ISAAC phase II study population from Munich and Dresden (age 9-11; N = 3099). Replication was performed in our previously established genome-wide association study (GWAS) data set (N = 1303) consisting of asthma cases from the Multicenter Asthma Genetic in Childhood (MAGIC) study and reference children from the ISAAC II study. RESULTS: SNPs were not significantly associated with asthma but with bronchial hyperresponsiveness, atopy and, most interestingly, with recurrent bronchitis in the first data set. The IRF-4 variant rs9378805 was associated with recurrent bronchitis in the ISAAC population and replicated in the GWAS data set where further SNPs showed associations with recurrent bronchitis and asthma. CONCLUSIONS: We found genetic associations in IRF-4 to be associated with recurrent bronchitis in our two study populations. Associated polymorphisms are localized in a putative regulatory element in the 3'UTR region of IRF-4. These findings suggest a putative role of IRF-4 in the development of bronchitis.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Asthma ; Bronchitis ; Children ; Polymorphisms ; Wheezing; Interferon Regulatory Factor-4 ; Chronic Lymphocytic-leukemia ; Helper-cell-differentiation ; Childhood Asthma ; Airway Inflammation ; Expression ; Variants ; Hyperresponsiveness ; Association ; Infants
ISSN (print) / ISBN 0954-7894
e-ISSN 1365-2222
Quellenangaben Volume: 43, Issue: 10, Pages: 1152-1159 Article Number: , Supplement: ,
Publisher Wiley
Non-patent literature Publications
Reviewing status Peer reviewed