Source: Annual Congress 2012 - Predicting and observing paediatric allergic disease
Disease area: Airway diseases, Paediatric lung diseases

Abstract

Background. Childhood asthma has been divided into phenotypes, which differ in the age of presentation, triggers, lung function and natural history. Despite the enormous increase in the knowledge about asthma genetics, there are very few data regarding the differences in genetic background of asthma phenotypes.
Aims and objectives. To find out whether the genetic background of atopic and non-atopic asthma differs, we analyzed the association of genetic polymorphisms already associated with asthma or inflammatory diseases with different asthma phenotypes and quantitative traits.
Methods. We analyzed a case-control cohort composed of 189 Slovenian children aged between 5 and 18 years with mild or moderate persistent atopic asthma, 99 with non-atopic asthma and 273 controls. We measured numerous clinical and laboratory parameters and carried out genotyping for polymorphisms CCR5-delta32, IL4RA Q551R, IL4 C-33T, NOD2 R702W, CTLA4 CT60, MUC7 – VNTR, TNF C-1031T, TGFB1 C-509T, SLC22A4 C1672T, CD14 C-159T and IL23R rs7517847.
Results. In non-atopic asthmatics the frequency of CCR5-delta32 allele was 2.6%, which is significantly less than 9.0% in the control group (p=0.03) and the frequency of IL4RA Arg551 allele was 7.7%, which is also significantly less than 19.9% in the control group (p<0.01). We have found no association of genotype with atopic asthma. Non-atopic asthmatics homozygous for the MUC7*6 allele had a total IgE value of 263.3 IU/ml compared to 40 IU/ml in heterozygotes (p=0.02).
Conclusions. Our findings point to differences in the pathogenesis of different asthma phenotypes and contribute to understanding of asthma as a complex and heterogeneous disease on the genetic level too.

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Citations should be made in the following way:
V. Berce, C. Pinto Kozmus, U. Potocnik (Maribor, Slovenia; Porto, Portugal). LATE-BREAKING ABSTRACT: Differences in genetic background of atopic and non-atopic asthma in children. Eur Respir J 2012; 40: Suppl. 56, 1931

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