| Author/Editor | Berce, Vojko; Potočnik, Uroš | |
| Title | Association of Q551R polymorphism in the interleukin 4 receptor gene with nonatopic asthma in Slovenian children | |
| Type | članek | |
| Source | Wien Klin Wochenschr Suppl | |
| Vol. and No. | Letnik 122, št. 2 | |
| Publication year | 2010 | |
| Volume | str. 11-8 | |
| Language | eng | |
| Abstract | Background: Asthma is one of the most common chronic diseases of childhood and results from the interaction of several genes and environmental influences. Interleukin 4 (IL4) and its receptor IL4R have a central role in the regulation of immunoglobulin E (IgE) production and thereby in the induction and maintenance of allergy and asthma. The single nucleotide polymorphisms (SNPs) Q551R in the IL4RA gene and C-33T in the IL4 gene probably influence IL4/IL4R pathway signaling; however, findings in association studies exploring the role of these two genes in asthma pathogenesis are contradictory. We have studied the association of IL4RA Q551R and IL4 C-33T SNPs with asthma, asthma phenotypes, and clinical and laboratory parameters. Methods: The study group comprised 106 children aged between 5 and 18 years with mild or moderate persistent asthma: 78 children were atopic and 28 had nonatopic asthma. The children underwent allergy and spirometry tests, a bronchoprovocation test with methacholine, measurement of exhaled nitric oxidein expired air and genotyping for IL4RA Q551R and IL4 C-33T SNPs. Genotype data from 89 nonatopic nonasthmatics served as a control group. Results: The frequency of the IL4RA Arg551 allele in the children with nonatopic asthma was 7.1%, significantly lower than 21.9% in the control group (P = 0.01, OR: 0.33, 95% CI: 0.12-0.87). Allelic and genotype frequencies in IL4 C-33T polymorphism in the asthma group and the control group were not significantly different. The mean value of total IgE in asthmatics with the IL4-33C allele was 556.0 IU/l, significantly higher than 371.6 IU/l in those with the T allele (P=0.02). In an interaction study we did not find significant differences in the frequencies of any combinations of IL4RA Q551R and IL4 C-33T alleles between asthmatics and controls. Conclusions: The IL4RA Q551R SNP is associated with nonatopic asthma in Slovenian children. (Abs. trunc. at 2000 ch.) | |
| Descriptors | ASTHMA CHILD PHENOTYPE EPISTASIS, GENETIC |