The interleukin 4 receptor α (IL-4Rα) polymorphism and allergic asthma in children;Polimorfizam interleukin-4 receptora alfa (IL-4Rα) i alergijska astma u djece

Paediatria Croatica

Volumn 50, Issue 3, 2006, Pages 131-136

  Ivković Jureković, Irena ^a   Sertić, Jadranka ^b  

^a Alergologiju I Reumatologiju S Klini kom Imunologijom   (Croatia)

^b KBC Zagreb   (Croatia)

Author keywords

Alleles; Asthma genetics, physiopathology; Genetic predisposition to disease; Immunoglobulin E blood; Polymorphism, genetic; Receptors, interleukin 4 genetics

Indexed keywords

IMMUNOGLOBULIN E; INTERLEUKIN 4 RECEPTOR;

ALLELE; ALLERGIC ASTHMA; ALLERGIC RHINITIS; ARTICLE; ATOPY; DISEASE SEVERITY; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HOMOZYGOSITY; HUMAN; RISK FACTOR;

EID: 33846014991     PISSN: 13301403     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (38)

1. Worldwide variations in the prevalence of asthma symptoms: the international study of asthma and allergies in childhood (ISAAC). Eur Respir J 1998;12:315-35.
2. Rabe KF, Vermeire PA, Soriano JB, Maier WC. Clinical management of asthma in 1999: the asthma insights and reality in Europe (AIRE) Study. Eur Respir J 2000;16:802-7.
3. Los H, Koppelman GH, Postma DS. The importance of genetic influences in asthma. Eur Respir J 1999;14:1210-27.
4. Hoffjan S, Nicolae D, Ober C. Association studies for asthma and atopic diseases: a comprehensive review of the literature. Res Research 2003;4:14-20.
5. Ober C, Hoffjan S. Asthma genetics 2006: the long and winding road togene discovery. Genes Immun 2006;7:95-100.
6. Shirakawy I, Deichmann KA, Izuhara I. atopy and asthma: genetic variants of IL-4 and IL-13 signalling. Immunol Today 2000;21:60-4.
7. Pillai SG, Chiano MN, White NJ, Speer M, Barnes KC, Carlsen K i sur. A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p. Eur J Hum Genet 2006;14:307-16.
8. Kurz T, Hoffjan S, Hayes MG, Schneider D, Nicolae R, Heinzmann A i sur. Fine mapping and positional candidate studies on chromosome 5p13 identify multiple asthma susceptibility loci. J Allergy Clin Immunol 2006;118:396-402.
9. Beghe B, Barton S, Rorke S, Sayers I, Gaunt T, Keith TP I sur. Polymorphisms in the interleukin-4 and intereleukin-4 receptor a chain genes confer susceptibility to asthma and atopy in Caucasian population. Clin Exp Allergy 2003;33:1111-7.
10. Pritchard MA. The interleukin-4 receptor gene (IL-4R) maps to 16p11.2-12.1 in the human and to the distal region of mouse chromosome 7. Genomics 1991;10:801-6.
11. Rosa-Rosa L, Zimmermann N, Bernstein JA, Rothenberg ME, Hershey GKK. The R576 IL-4 receptor α allele correlates with asthma severity. J Allergy Clin Immunol 1999;104:1008-14.
12. Hershey GKK, Friedrich MF, Esswein LA, Thomas ML, Chatila TA. The association of atopy with a gain-of-function mutation in the (alpha) subunit of the interleukin-4 receptor. N Eng J Med 1997;337:1720-5.
13. Takabayashi A, Ihara K, Sasaki Y, Suzuki Y, Nishima S, Izuhara K i sur. Childhood atopic asthma: positive association with a polymorphism of IL-4 receptor α gene but not with that of IL-4 promotor or Fee Receptor I β gene. Exp Clin Immunogenet 2000;17:63-70.
14. Grimbacher B, Holland SM, Puck JM. The interleukin-4 receptor variant Q 576 R in hyper-IgE syndrome. N Eng J Med 1998;338:1073-4.
15. Mitsuyasu H, Isuhara K, Mao X, Gao P, Arinobu Y, Enomoto T i sur. Ile50Val variant of IL-4Rα upregulates IgE synthesis and associates with atopic asthma. Nat Genet 1998;19:119-20.
16. National asthma Education and Prevention Program. Guidelines for the diagnosis and management of asthma. Bethesda, MD: National Heart, Lung and Blood Institute, National Institutes Of Health; 1997. (Updated 2005.) Dostupno na: http://www.nhlbi.nih.gov
17. ARIA Workshop Report. Allergic rhinitis and its impact on asthma. J Allergy Clin Immunol 2001;108Suppl 5:208-17.
18. Annaesi-Maesano I. Epidemiological evidence of the occurence of rhinitis and sinusitis in asthma. Allergy 1999;54Suppl. 57:7-13.
19. Lombardi C, Gani F, Landi M. Clinical and therapeutic aspects of allergic asthma in adolescents. Pediatr Allergy Immunol 2003,14.453-7.
20. Castro J, Telleria JJ, Linares P, Blanco-Quiros A. Increased TNFA*2, but not TNFB*1 allele frequency in Spanish atopic patients. Invest Allergol Clin Immunol 2000;10(3):149-54.
21. Kabesch M, Schedel M, Carr D, Woitsch B, Fritzsch C, Weiland S i sur. IL-4/IL-13 pathway genetics strongly influence serum IgE levels and childhood asthma. J Allergy Clin Immunol 2006;117:269-74.
22. Woitsch B, Carr D, Stachel D, Schmid I, Weiland SK, Fritzsch C i sur. A comprehensive analysis of interleukin-r receptor plymorphisms and their association with atopy and IgE reguklation in childhood. Int Arch Allergy immunol 2004;135:319-24.
23. Woszczek G, Kowalski ML, Borowiec M. Association of asthma and total IgE levels with human leucocyte antigen-DR in patients with grass allergy. Eur Respir J 2002;20:79-85.
24. Khurana Hershey GK, Friedrich MF, Esswein LA, Thomas ML, Chatila TA. Association of atopy with a gain-of-function mutation in the interleukin-4 receptor alpha chain. N Eng J Med 1997;337:1720-5.
25. Chan HIS, Leung TF, Tang NLS, Li CY, Sung YM, Wong GWK i sur. Gene-gene interactions for asthma and plasma total IgE concentration in Chinese children. J Allergy Clin Immunol 2006;117:127-33.
26. Chatila TA. Interleukin-4 receptor signaling pathways in asthma pathogenesis. Trends Mol Med 2004;10:493-99.
27. Howard TD, Koppelman DH, Xu J. Gene-gene interaction in asthma: IL-4Rα and IL-13 in a Dutch population with asthma. Am J Hum Genet 2002;70:230-6.
28. Deichmann KA, Heinzmann A, Forster S, Dischinger S, Mehl C, Brueggenolte E i sur. Linkage and allelic association of atopy and markers flanking thr IL-4 receptor gene. Clin Exp Allergy 1998;28:151-5.
29. Mitsuyasu H, Yanagihara Y, Mao X-Q, Gao PS, Arinobu Y, Ihara K i sur. Dominant effect of Ile50Val variant of the human IL-4 receptor α-chain in IgE synthesis. J Immunol 1999;162:1227-31.
30. Deichmann K, Bardutzky J, Forster J, Heinzmann A, Kuehr J. Common polymorphism in the coding part of IL-4-receptor gene. Biochem Byiophys Res Comm 1997;231:697-7.
31. Noguchi E, Shibasaki M, Arinami T, Takeda K, Yokouchi Y, Kobayashi K. No association between atopy/asthma and the Ile50Val polymorphism of the IL-4 receptor. Am J Respir Crit Care Med 1999;160:342-5.
32. Risma KA, Wang N, Andrews RP, Cunningam CM, Ericksen MB, Bernstein JA i sur. V75R576 IL-4 receptor α is associated with allergic asthma and enhanced IL-4 receptor function. J Immunol 2002;169:1604-10.
33. Kruse S, Japha T, Tedner M, Sparholt SH, Forster J, Kuehr J i sur. The polymorphism S503P and Q576R in the interleukin-4 receptor α gene are associated with atopy and influence the signal transduction. Immunology, 1999;96:365-71.
34. Franjkovic I, Gessner A, König I, Kissel K. Bohnert A, Hartung A sur. Effects of common atopy-associated amino acid substitutions in the IL-4 receptor alpha chain on IL-4 induced phenotypes. Immunogenetics 2005;56:8.8-17.
35. Isidoro-Garcia M, Davila I, Laffond E, Moreno E, Lorente F, Gonzales-Sarmiento R. Iterleukin,4 (IL-4) and interleukin-4 receptor (IL-4RA) polymorphisms in asthma: a case control study. Clin Mol Allergy 2005;3:15.22.
36. Richter D, Sertić J, Kelečić J. R576 IL-4 receptor alpha (IL-4R) polymorphism and desease severity in childhood allergic asthma. Period Biol 2004;106:377-80.
37. Lee S-G, Kim B-S, Kim J-H, Lee S-Y, Choi S-O, Shim J-Y i sur. Gene-Gene interaction between interleukin-4 and interleukin-4 receptor α in Korean children with asthma. Clin Exp Allergy 2004;34:1202-9.
38. Hytönen A-M, Löwhagen O, Arvidsson M, Balder B, Björk AL, Lindgren S i sur. Haplotypes of the interleukin-4 receptor α gene associate with susceptibility to and severity of atopic asthma. Clin Exp Allergy 2004;34:1570-8.