Advances in Clinical and Experimental Medicine

Title abbreviation: Adv Clin Exp Med
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Advances in Clinical and Experimental Medicine

2007, vol. 16, nr 6, November-December, p. 735–741

Publication type: original article

Language: English

Polymorphism in the Promoter and Coding Region of the IL−4 Receptor Alpha−Chain Gene in Atopic Children

Polimorfizm w regionie promotorowym i kodującym gen dla łańcucha alfa receptora IL−4 u dzieci atopowych

Hanna Danielewicz1,, Magdalena Hurkacz2,, Andrzej Boznański1,, Anna Wiela−Hojeńska2,

1 1st Department of Pediatrics, Clinic of Pediatrics, Allergy, and Cardiology, Silesian Piasts University of Medicine in Wrocław, Poland

2 Department and Unit of Clinical Pharmacology, Silesian Piasts University of Medicine in Wrocław, Poland

Abstract

Background. The IL−4 receptor alpha−chain locus is a candidate gene for atopy and allergic disease. Several polymorphisms have been investigated within the gene; however, the results are ambiguous. Polymorphism in the promoter region of the gene was suggested to be crucial for asthma and atopy susceptibility.
Objectives. The aim of this study was to evaluate the association of the C−3223T polymorphism in the promoter region and the I50V polymorphism in the coding region of the IL−4Rα gene with susceptibility to atopy and atopic diseases.
Material and Methods. Children diagnosed with atopic disease and having a positive IgE−dependent response (SPT, specific IgE, total IgE) and children with no features of atopy serving as a control group were recruited. The patients and controls were genotyped for both polymorphisms, C−3223T and I50V.
Results. The presence of the C−3223T mutant allele corresponded with atopy status, whereas such a relationship was not found for I50V.
Conclusion. These results imply that C−3223T may play an important role in the pathogenesis of atopy and atopic diseases.

Streszczenie

Wprowadzenie. Gen dla łańcucha α receptora IL−4 jest idealnym kandydatem na gen podatności na atopię i atopowe choroby alergiczne. Polimorfizm regionu promotorowego genu jest sugerowany jako kluczowy czynnik determinujący podatność na astmę i atopię.
Cel pracy. Ocena asocjacji polimorfizmów C−3223T i I50V z podatnością na atopię i atopowe choroby alergiczne w grupie dzieci.
Materiał i metody. Do badania włączono dzieci atopowe z rozpoznaniem atopowej choroby alergicznej i pozytywnym miernikiem odpowiedzi IgE−zależnej (PTS, IgE specyficzne, IgE całkowite) oraz dzieci bez cech atopii, które stanowiły grupę kontrolną. Porównano dystrybucję genotypów i alleli dla obu polimorfizmów C−3223T i I50V.
Wyniki. Wykazano statystycznie istotną różnicę w rozkładzie genotypów i alleli dla C−3223T, podczas gdy zależności tego rodzaju nie udało się wykazać dla I50V.
Wnioski. Wyniki badań sugerują ważną rolę C−3223T w patogenezie atopii i chorób atopowych.

Key words

atopy, genetic polymorphism, IL−4 receptor

Słowa kluczowe

atopia, polimorfizm genetyczny, receptor IL−4

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