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Interleukin-4 receptor polymorphisms in asthma and allergy: relation to different disease phenotypes.

Journal article
Authors Bill Hesselmar
Ann-Marie Bergin
Hanna Park
Mirjana Hahn-Zoric
Bengt I. Eriksson
Lars Åke Hanson
Leonid Padyukov
Published in Acta paediatrica
Volume 99
Issue 3
Pages 399-403
ISSN 1651-2227
Publication year 2010
Published at Institute of Biomedicine, Department of Microbiology and Immunology
Institute of Clinical Sciences, Department of Pediatrics
Institute of Clinical Sciences, Department of Orthopaedics
Pages 399-403
Language en
Keywords Adolescent, Asthma, genetics, Child, Conjunctivitis, Allergic, genetics, Eczema, genetics, Genetic Predisposition to Disease, Humans, Phenotype, Polymorphism, Single Nucleotide, Questionnaires, Receptors, Interleukin-4, genetics, Skin Tests
Subject categories Microbiology in the medical area


Aim:  Inheritance and genetic factors are supposed to influence susceptibility to asthma and allergy. We tested if single nucleotide polymorphisms (SNPs) in the IL4R gene were associated with susceptibility to such diseases, or if they were related to the phenotypic presentation of asthma and allergic rhinoconjunctivitis (ARC). Methods:  Three hundred and nine 12- to 13-year-old children were included. Six SNPs in the IL4R were analysed in response to current allergic disease, and to presentation of specific asthma and ARC phenotypes. Questionnaires were used to determine allergic disease status, and skin prick tests to evaluate sensitization to common airborne allergens. Results:  Less eczema was seen in individuals with the AA-genotype of rs2057768, and less ARC among those with the AA-genotype of rs2107356, especially ARC associated with sensitization to pollen. The AA-genotype of rs2057768 and the TT genotype of rs3024632 were associated with a specific asthma phenotype. Conclusion:  Variations within the IL4R gene are associated with allergic diseases in children, preferably with eczema and disease phenotypes of ARC and asthma.

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