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

Konstantinidis, A. K., Barton, S. J., Sayers. I., Yang, I. A., Lordan, J. L., Rorke, S., Clough, J. B., Holgate, S. T. and Holloway, J. W. (2007) Genetic association studies of interleukin-13 receptor alpha-1 subunit gene polymorphisms in asthma and atopy. The European Respiratory Journal, 30 1: 40-47. doi:10.1183/09031936.00025706


Author Konstantinidis, A. K.
Barton, S. J.
Sayers. I.
Yang, I. A.
Lordan, J. L.
Rorke, S.
Clough, J. B.
Holgate, S. T.
Holloway, J. W.
Title Genetic association studies of interleukin-13 receptor alpha-1 subunit gene polymorphisms in asthma and atopy
Formatted title
Genetic association studies of interleukin-13 receptor α1 subunit gene polymorphisms in asthma and atopy
Journal name The European Respiratory Journal   Check publisher's open access policy
ISSN 0903-1936
0904-1850
1399-3003
Publication date 2007-07-01
Sub-type Article (original research)
DOI 10.1183/09031936.00025706
Open Access Status Not Open Access
Volume 30
Issue 1
Start page 40
End page 47
Total pages 8
Editor K. F. Rabe
P. J. Sterk
Place of publication Lausanne, Switzerland
Publisher European Respiratory Society
Language eng
Subject 321027 Respiratory Diseases
730110 Respiratory system and diseases (incl. asthma)
C1
110203 Respiratory Diseases
1102 Cardiovascular Medicine and Haematology
Formatted abstract
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 α1 subunit (IL-13Rα1) and IL-4Rα. The genetic diversity at the IL-13Rα1 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 α1 subunit gene -281T>G and 1365A>G polymorphisms do not contribute to asthma susceptibility or severity, although the interleukin-13 receptor α1 subunit gene locus might be involved in the control of immunoglobulin E production.
Copyright©ERS Journals Ltd 2007
Keyword Asthma
Atopy
Genetics
Immunoglobulin E
Interleukin-13 receptor
Polymorphism
Q-Index Code C1
Q-Index Status Confirmed Code

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
2008 Higher Education Research Data Collection
School of Medicine Publications
 
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Created: Fri, 29 Feb 2008, 22:04:18 EST by Sarah Elliott on behalf of Medicine - Prince Charles Hospital