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  Authority of Polish Society of Allergology

vol 5. no 3. September 2000  

 Original articles
The polymorphism R576Q of the interleukin-4 receptor subunit a gene in atopic patients
Barbara Rymarczyk, Dariusz Moczulski, Barbara Rogala, Władysław Grzeszczak

There is a strong evidence that R576 allele of interleukin-4 receptor a gene (IL-4R) might predispose to atopy. The aim of the study was to test the role of R576Q polymorphism in patients with atopy using family based study design, free of possible biases caused by population substructure and the effect of R576Q polymorphism on the total IgE, IL-4 and sIL-4R serum levels.
For this purpose 45 atopic patients (aged 11-34) with pollen and house dust mite allergy or/and mild asthma together with both parents were collected. R576Q polymorphism of IL-4Ra gene was genotyped in each proband and both parents using PCR-based protocol. The results were analysed with the transmission disequilibrium test (TDT) using the family based study design. The total IgE serum level, allergen-specific IgE to the common aeroallergens, IL-4 and sIL-4Ra were assessed in each proband and their both parents. In TDT test R576 and Q576 allele were transmitted from heterozygous parents to the affected offspring 20 and 15 times, respectively (McNemar test: c=0,72; p=0.19). No significant differences among total IgE, IL-4 and sIL-4Ra serum levels in investigated groups with the same genotype were observed.
The results of transmission disequilibrium test did not reach the statistical significance, however the observed excess of R576 allele may support the previous observation of case-control studies in other populations, that R576 allele is associated with atopy. A larger study group has to be collected to prove the observed correlation.
Alergia Astma Immunologia, 2000, 5(3), 188-192

keywords: receptor dla interleukiny 4, polimorfizm R576Q, choroby atopowe, genetyka astmy, interleukin-4 receptor, polymorphism R576Q, atopy, genetics of asthma

pages: from 188 to 192

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