Genetic association studies of interleukin-13 receptor α1 subunit gene polymorphisms in asthma and atopy

European Respiratory Journal

Volumn 30, Issue 1, 2007, Pages 40-47

  Konstantinidis, A K ^a,b   Barton, S J ^a   Sayers, I ^a   Yang, I A ^a   Lordan, J L ^a   Rorke, S ^a   Clough, J B ^a   Holgate, S T ^a   Holloway, J W ^a  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b NORTHWESTERN UNIVERSITY   (United States)

Author keywords

Asthma; Atopy; Genetics; Immunoglobulin E; Interleukin 13 receptor; Polymorphism

Indexed keywords

GUANINE; IMMUNOGLOBULIN E; INTERLEUKIN 13 RECEPTOR ALPHA1; INTERLEUKIN 4 RECEPTOR ALPHA; PROTEIN SUBUNIT; THYMIDINE;

3' UNTRANSLATED REGION; ADOLESCENT; ADULT; ARTICLE; ASTHMA; ATOPY; CASE CONTROL STUDY; CAUCASIAN; CHILD; CHROMOSOME XQ; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE SEVERITY; DNA POLYMORPHISM; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; RECEPTOR BINDING; SINGLE NUCLEOTIDE POLYMORPHISM;

3' UNTRANSLATED REGIONS; ADOLESCENT; ADULT; ASTHMA; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERSENSITIVITY, IMMEDIATE; INTERLEUKIN-13 RECEPTOR ALPHA1 SUBUNIT; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 34447571694     PISSN: 09031936     EISSN: None     Source Type: Journal    
DOI: 10.1183/09031936.00025706     Document Type: Article

References (27)

1. Del Prete G, Maggi E, Parronchi P, et al. IL-4 is an essential factor for the IgE synthesis induced in vitro by human T cell clones and their supernatants. J Immunol 1988; 140: 4193-4198.
2. Defrance T, Carayon P, Billian G, et al. Interleukin 13 is a B cell stimulating factor. J Exp Med 1994; 179: 135-141.
3. Wardlaw AJ. Eosinophil trafficking in asthma. Clin Med 2001; 1: 214-218.
4. Rankin JA, Picarella DE, Geba GP, et al. Phenotypic and physiologic characterization of transgenic mice expressing interleukin-4 in the lung: lymphocytic and eosinophilic inflammation without airway hyperreactivity. Proc Natl Acad Sci USA 1996; 93: 7821-7825.
5. Zhu Z, Homer RJ, Wang Z, et al. Pulmonary expression of interleukin-13 causes inflammation, mucus hypersecretion, subepithelial fibrosis, physiologic abnormalities, and eotaxin production. J Clin Invest 1999; 103: 779-788.
6. Richter A, Puddicombe SM, Lordan JL, et al. The contribution of interleukin (IL)-4 and IL-13 to the epithelial-mesenchymal trophic unit in asthma. Am J Respir Cell Mol Biol 2001; 25: 385-391.
7. Miloux B, Laurent P, Bornnin O, et al. Cloning of the human IL-13Rα1 chain and reconstitution with the IL4Rα of a functional IL-4/ IL-13 receptor complex. FEBS Lett 1997; 401: 163-166.
8. Murata T, Taguchi J, Puri RK. Interleukin-13 receptor α′ but not α chain: a functional component of interleukin-4 receptors. Blood 1998; 91: 3884-3891.
9. Entrez Gene. IL13RA1 interleukin 13 receptor, alpha 1 [ Homo sapiens ]. www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd= Retrieve&dopt=full_report&list_uids=3597 Date last updated: April 10, 2007. Date last accessed: April, 19: 2007.
10. Ise T, Izumi H, Nagatani G, et al. Structural characterization of the human interleukin-13 receptor α1 gene promoter. Biochem Biophys Res Commun 1999; 265: 387-394.
11. Wills-Karp M. IL-12/IL-13 axis in allergic asthma. J Allergy Clin Immunol 2001; 107: 9-18.
12. Zurawski SM, Chomarat P, Djossou O, et al. The primary binding subunit of the human interleukin-4 receptor is also a component of the interleukin-13 receptor. J Biol Chem 1995; 270: 13869-13878.
13. Nelms K, Keegan AD, Zamorano J, Ryan JJ, Paul WE. The IL-4 receptor: signaling mechanisms and biologic functions. Annu Rev Immunol 1999; 17: 701-738.
14. Shirakawa I, Deichmann K, Izuhara I, Mao I, Adra C, Hopkin J. Atopy and asthma: genetic variants of IL-4 and IL-13 signalling. Immunol Today 2000; 21: 60-64.
15. Ahmed S, Ihara K, Sasaki Y, et al. Novel polymorphism in the coding region of the IL-13 receptor α′ gene: association study with atopic asthma in the Japanese population. Exp Clin Immunogenet 2000; 17: 18-22.
16. Heinzmann A, Mao XQ, Akaiwa M, et al. Genetic variants of IL-13 signalling and human asthma and atopy. Hum Mol Genet 2000; 9: 549-559.
17. Crapo RO, Casaburi R, Coates AL, et al. Guidelines for methacholine and exercise challenge testing-1999. This official statement of the American Thoracic Society was adopted by the ATS Board of Directors, July 1999. Am J Respir Crit Care Med 2000; 161: 309-329.
18. 4 synthase gene (LTC4S) in asthma. Thorax 2003; 58: 417-424.
19. Rowley G, Saad S, Giannelli F, Green PM. Ultrarapid mutation detection by multiplex, solid-phase chemical cleavage. Genomics 1995; 30: 574-582.
20. Xiao W, Oefner PJ. Denaturing high-performance liquid chromatography: a review. Hum Mutat 2001; 17: 439-474.
21. Ye S Dhillon S, Ke X, Collins AR, Day IN. An efficient procedure for genotyping single nucleotide polymorphisms. Nucleic Acids Res 2001; 29: E88.
22. Day IN, Humphries SE. Electrophoresis for genotyping: microtiter array diagonal gel electrophoresis on horizontal polyacrylamide gels, hydrolink, or agarose. Anal Biochem 2002;222:389-395.
23. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996; 273: 1516-1517.
24. Ardlie KG, Kruglyak L, Seielstad M. Patterns of linkage disequilibrium in the human genome. Nat Rev Genet 2002; 3: 299-309.
25. Marsh DG, Meyers DA, Bias WB. The epidemiology and genetics of atopic allergy. N Engl J Med 1981; 305: 1551-1559.
26. Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 2003; 33: 177-182.
27. Ioannidis JP. Genetic associations: false or true? Trends Mol Med 2003; 9: 135-138.