Abstract

Objective. Genetic heterogeneity and risk factor distribution was analyzed in two previously proposed asthma phenotypes. Method. A sample of 412 subjects was investigated at 7-8, 12-13, and 21-22 years of age with questionnaires, skin prick tests, and genetic analysis of IL-4 receptor (IL4R) single-nucleotide polymorphisms. The sample was subdivided in one group with no asthma, and two groups with asthma separated by age of onset of symptoms, namely, early onset asthma (EOA) and late onset asthma (LOA). Risk factors and IL4R markers were analyzed in respect to asthma phenotypes. Results. EOA and LOA groups were both associated with atopy and a maternal history of asthma. Female gender was more common in LOA, whereas childhood eczema, frequent colds in infancy, and a paternal history of asthma were more common in EOA. The AA genotype of rs2057768 and the GG genotype of rs1805010 were more common in LOA, whereas the GG genotype of rs2107356 was less common in EOA. Conclusion. Our data suggest that early and late onset asthma may be of different endotypes and genotypes.

Highlights

  • Asthma is a common disease, but it has been questioned if it is one single disease, or a group of asthmatic diseases

  • The sample was subdivided in one group with no asthma, and two groups with asthma separated by age of onset of symptoms, namely, early onset asthma (EOA) and late onset asthma (LOA)

  • The AA genotype of rs2057768 and the GG genotype of rs1805010 were more common in LOA, whereas the GG genotype of rs2107356 was less common in EOA

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Summary

Introduction

Asthma is a common disease, but it has been questioned if it is one single disease, or a group of asthmatic diseases. Transient wheeze had a characteristic phenotype pattern, there were differences between the two asthma subgroups, with eczema being more common among children with early persistent wheeze than among children with asthma onset after the age of 3 years. We have seen that the same genetic pattern in children may have different consequences in adult women with severe atopic asthma [10]. If these contrasting results are due to different asthma phenotypes being tested, or to random associations in different studies, is still not known. Since the association between asthma and eczema resembles the phenotype “early persistent wheeze” used in Journal of Allergy the Tucson study, and there is a predominance of females among adults with asthma, we wanted to investigate if early onset asthma (

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