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Published online before print March 28, 2007, 10.1183/09031936.00025706
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Eur Respir J 2007; 30:40-47
Copyright ©ERS Journals Ltd 2007

Genetic association studies of interleukin-13 receptor {alpha}1 subunit gene polymorphisms in asthma and atopy

A. K. Konstantinidis1,2, S. J. Barton2, I. Sayers1, I. A. Yang1,2, J. L. Lordan2, S. Rorke2, J. B. Clough2, S. T. Holgate2 and J. W. Holloway1,2

Divisions of 1 Human Genetics, and 2 Infection, Inflammation and Repair, School of Medicine, University of Southampton, Southampton, UK.

CORRESPONDENCE: A. K. Konstantinidis, Northwestern University, Feinberg School of Medicine, Division of Allergy-Immunology, 676 North St Clair, Suite 14019, Chicago, IL 60611, USA. Fax: 1 3126954141. E-mail: a-konstantinidis{at}northwestern.edu

Keywords: Asthma, atopy, genetics, immunoglobulin E, interleukin-13 receptor, polymorphism

Received: February 19, 2006
Accepted March 14, 2007

Interleukin (IL)-13 plays a central role in asthma pathogenesis by binding to the IL-13 receptor, which is a heterodimer composed of the IL-13 receptor {alpha}1 subunit (IL-13R{alpha}1) and IL-4R{alpha}. The genetic diversity at the IL-13R{alpha}1 gene (IL13RA1) locus on chromosome Xq24 was characterised and the association of identified polymorphisms with asthma and atopy phenotypes examined.

The promoter and coding region of IL13RA1 were screened for common genetic variants, and polymorphisms found were genotyped in a large cohort of 341 asthmatic Caucasian families (each containing at least two asthmatic siblings) and 182 nonasthmatic control subjects. Genetic association was determined using case–control and transmission disequilibrium test analyses.

Two common polymorphisms were identified, a newly found thymidine (T) to guanine (G) transition of nucleotide -281 (-281T>G) single nucleotide polymorphism in the IL13RA1 promoter and the previously described 1365A>G variant in the IL13RA1 proximal 3' untranslated region. No significant association of either -281T>G or 1365A>G with risk of asthma or atopy phenotypes was found, apart from a suggestive association between the IL13RA1 -281T/1365A haplotype and raised total serum immunoglobulin E levels in adult female asthmatics.

These findings indicate that the interleukin-13 receptor {alpha}1 subunit gene -281T>G and 1365A>G polymorphisms do not contribute to asthma susceptibility or severity, although the interleukin-13 receptor {alpha}1 subunit gene locus might be involved in the control of immunoglobulin E production.






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Copyright © 2007 by the European Respiratory Society.