Effects of common atopy-associated amino acid substitutions in the IL-4 receptor alpha chain on IL-4 induced phenotypes

Immunogenetics

Volumn 56, Issue 11, 2005, Pages 808-817

  Franjkovic, Izolda ^a   Gessner, Andre ^b   König, Inke ^c   Kissel, Karin ^a   Bohnert, Anette ^a   Hartung, Anne ^a   Ohly, Astrid ^a   Ziegler, Andreas ^c   Hackstein, Holger ^a   Bein, Gregor ^a  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^c UNIVERSITY OF LÜBECK   (Germany)

Author keywords

Allergy; Cytokine receptors; Human; Signal transduction

Indexed keywords

CD23 ANTIGEN; IMMUNOGLOBULIN E; INTERLEUKIN 4; INTERLEUKIN 4 RECEPTOR;

ALPHA CHAIN; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; ATOPY; B LYMPHOCYTE; BLOOD DONOR; CELL LINE; COMPARATIVE STUDY; DISEASE PREDISPOSITION; EMBRYO; GENE FREQUENCY; GENETIC CODE; GENETIC TRANSFECTION; HAPLOTYPE; HUMAN; HUMAN CELL; IMMUNOGLOBULIN BLOOD LEVEL; LYMPHOCYTE PROLIFERATION; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; T LYMPHOCYTE; WILD TYPE; ANIMAL; BLOOD; GENETICS; IMMEDIATE TYPE HYPERSENSITIVITY; IMMUNOLOGY; METABOLISM; RAT;

AMINO ACID SUBSTITUTION; ANIMALS; B-LYMPHOCYTES; HAPLOTYPES; HYPERSENSITIVITY, IMMEDIATE; IMMUNOGLOBULIN E; INTERLEUKIN-4; MICE; PHENOTYPE; RATS; RECEPTORS, INTERLEUKIN-4; T-LYMPHOCYTES; TRANSFECTION;

EID: 20244368983     PISSN: 00937711     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00251-004-0763-1     Document Type: Article

References (58)

1. Andrews RP, Rosa LR, Daines MO, Khurana Hershey GK (2001) Reconstitution of a functional human type II IL-4/IL-13 receptor in mouse B cells: demonstration of species specificity. J Immunol 166:1716-22
2. Becker KG (2004) The common variants/multiple disease hypothesis of common complex genetic disorders. Med Hypotheses 62:309-17
3. Beghe B, Barton S, Rorke S, Peng Q, Sayers I, Gaunt T, Keith TP, Clough JB, Holgate ST, Holloway JW (2003) Polymorphisms in the interleukin-4 and interleukin-4 receptor alpha chain genes confer susceptibility to asthma and atopy in a Caucasian population. Clin Exp Allergy 33:1111-1117
4. Blaeser F, Bryce PJ, Ho N, Raman V, Dedeoglu F, Donaldson DD, Geha RS, Oettgen HC, Chatila TA (2003) Targeted inactivation of the IL-4 receptor alpha chain I4R motif promotes allergic airway inflammation. J Exp Med 198:1189-200
5. Bottini N, Borgiani P, Otsu A, Saccucci P, Stefanini L, Greco E, Fontana L, Hopkin JM, Mao XQ, Shirakawa T (2002) IL-4 receptor alpha chain genetic polymorphism and total IgE levels in the English population: two-locus haplotypes are more informative than individual SNPs. Clin Genet 61:288-292
6. Chomarat P, Banchereau J (1997) An update on interleukin-4 and its receptor. Eur Cytokine Netw 8:333-344
7. Coffman RL, Lebman DA, Rothman P (1993) Mechanism and regulation of immunoglobulin isotype switching. Adv Immunol 54:229-270
8. Colhoun HM, McKeigue PM, Davey SG (2003) Problems of reporting genetic associations with complex outcomes. Lancet 361:865-872
9. Cookson WO, Sharp PA, Faux JA, Hopkin JM (1989) Linkage between immunoglobulin E responses underlying asthma and rhinitis and chromosome Uq. Lancet 1:1292-1295
10. Cui T, Wu J, Pan S, Xie J (2003) Polymorphisms in the IL-4 and IL-4R alpha genes and allergic asthma. Clin Chem Lab Med 41:888-892
11. Daniels SE, Bhattacharrya S, James A, Leaves NI, Young A, Hill MR, Faux JA, Ryan GF, le Souef PN, Lathrop GM, Musk AW, Cookson WO (1996) A genome-wide search for quantitative trait loci underlying asthma. Nature 383:247-250
12. Deichmann K, Bardutzky J, Forster J, Heinzmann A, Kuehr J (1997) Common polymorphisms in the coding part of the IL4-receptor gene. Biochem Biophys Res Commun 231:696-697
13. Dupre D, Audrezet MP, Ferec C (2000) Atopy and a mutation in the interleukin-4 receptor gene. N Engl J Med 343:69-70
14. Freimer N, Sabatti C (2004) The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology. Nat Genet 36:1045-1051
15. Grimbacher B, Holland SM, Puck JM (1998) The interleukin-4 receptor variant Q576R in hyper-IgE syndrome. N Engl J Med 338:1073-1074
16. Haagerup A, Bjerke T, Schiotz PO, Dahl R, Binderup HG, Kruse TA (2001) No linkage and association of atopy to chromosome 16 including the interleukin-4 receptor gene. Allergy 56:775-779
17. Hackstein H, Hofmann H, Bohnert A, Bein G (1999) Definition of human interleukin-4 receptor alpha chain haplotypes and allelic association with atopy markers. Hum Immunol 60:1119-1127
18. Hackstein H, Hecker M, Kruse S, Bohnert A, Ober C, Deichmann KA, Bein G (2001) A novel polymorphism in the 5′ promoter region of the human interleukin-4 receptor alpha-chain gene is associated with decreased soluble interleukin-4 receptor protein levels. Immunogenetics 53:264-269
19. Hakonarson H, Wjst M (2001) Current concepts on the genetics of asthma. Curr Opin Pediatr 13:267-277
20. Harada N, Yang G, Miyajima A, Howard M (1992) Identification of an essential region for growth signal transduction in the cytoplasmic domain of the human interleukin-4 receptor. J Biol Chem 267:22752-22758
21. Hecker M, Bohnert A, Konig IR, Bein G, Hackstein H (2003) Novel genetic variation of human interleukin-21 receptor is associated with elevated IgE levels in females. Genes Immun 4:228-233
22. Hershey GK, Friedrich MF, Esswein LA, Thomas ML, Chatila TA (1997) The association of atopy with a gain-of-function mutation in the alpha subunit of the interleukin-4 receptor. N Engl J Med 337:1720-1725
23. Hosomi N, Fukai K, Oiso N, Kato A, Ishii M, Kunimoto H, Nakajima K (2004) Polymorphisms in the promoter of the interleukin-4 receptor alpha chain gene are associated with atopic dermatitis in Japan. J Invest Dermatol 122:843-845
24. Howard TD, Koppelman GH, Xu J, Zheng SL, Postma DS, Meyers DA, Bleecker ER (2002) Gene-gene interaction in asthma: IL4RA and IL13 in a Dutch population with asthma. Am J Hum Genet 70:230-236
25. Idzerda RL, March CJ, Mosley B, Lyman SD, Vanden Bos T, Gimpel SD, Din WS, Grabstein KH, Widmer MB, Park LS (1990) Human interleukin 4 receptor confers biological responsiveness and defines a novel receptor superfamily. J Exp Med 171:861-873
26. Izuhara K, Yanagihara Y, Hamasaki N, Shirakawa T, Hopkin JM (2000) Atopy and the human IL-4 receptor alpha chain. J Allergy Clin Immunol 106:865-871
27. Kauppi P, Lindblad-Toh K, Sevon P, Toivonen HT, Rioux JD, Villapakkam A, Laitinen LA, Hudson TJ, Kere J, Laitinen T (2001) A second-generation association study of the 5q31 cytokine gene cluster and the interleukin-4 receptor in asthma. Genomics 77:35-42
28. Keegan AD, Nelms K, White M, Wang LM, Pierce JH, Paul WE (1994) An IL-4 receptor region containing an insulin receptor motif is important for IL-4-mediated IRS-1 phosphorylation and cell growth. Cell 76:811-820
29. Kruse S, Japha T, Tedner M, Sparholt SH, Forster J, Kuehr J, Deichmann KA (1999) The polymorphisms S503P and Q576R in the interleukin-4 receptor alpha gene are associated with atopy and influence the signal transduction. Immunology 96:365-371
30. Laker C, Stocking C, Bergholz U, Hess N, De Lamarter JF, Ostertag W (1987) Autocrine stimulation after transfer of the granulocyte/macrophage colony-stimulating factor gene and autonomous growth are distinct but interdependent steps in the oncogenic pathway. Proc Natl Acad Sci USA 84:8458-8462
31. Lischke A, Kammer W, Friedrich K (1995) Different human interleukin-4 mutants preferentially activate human or murine common receptor gamma chain. Eur J Biochem 234:100-107
32. Liu X, Beaty TH, Deindl P, Huang SK, Lau S, Sommerfeld C, Fallin MD, Kao WH, Wahn U, Nickel R (2004) Associations between specific serum IgE response and 6 variants within the genes IL4, IL13, and IL4RA in German children: the German Multicenter Atopy Study. J Allergy Clin Immunol 113:489-495
33. Malerba G, Trabetti E, Patuzzo C, Lauciello MC, Galavotti R, Pescollderungg L, Boner AL, Pignatti PF (1999) Candidate genes and a genome-wide search in Italian families with atopic asthmatic children. Clin Exp Allergy 29:27-30
34. Maniatis N, Collins A, Xu CF, McCarthy LC, Hewett DR, Tapper W, Ennis S, Ke X, Morton NE (2002) The first linkage disequilibrium (LD) maps: delineation of hot and cold blocks by diplotype analysis. Proc Natl Acad Sci USA 99:2228-2233
35. Migliaccio C, Patuzzo C, Malerba G, Trabetti E, Galavotti R, Pescollderung L, Boner AL, Pignatti PF (2003) No linkage or association of five polymorphisms in the interleukin-4 receptor alpha gene with atopic asthma in Italian families. Eur J Immunogenet 30:349-353
36. Mitsuyasu H, Izuhara K, Mao XQ, Gao PS, Arinobu Y, Enomoto T, Kawai M, Sasaki S, Dake Y, Hamasaki N, Shirakawa T, Hopkin JM (1998) Ile50Val variant of IL4R alpha upregulates IgE synthesis and associates with atopic asthma. Nat Genet 19:119-120
37. Mitsuyasu H, Yanagihara Y, Mao XQ, Gao PS, Arinobu Y, Ihara K, Takabayashi A, Hara T, Enomoto T, Sasaki S, Kawai M, Hamasaki N, Shirakawa T, Hopkin JM, Izuhara K (1999) Cutting edge: dominant effect of Ile50Val variant of the human IL-4 receptor alpha-chain in IgE synthesis. J Immunol 162:1227-1231
38. Nakamura H, Miyagawa K, Ogino K, Endo T, Imai T, Ozasa K, Motohashi Y, Matsuzaki I, Sasahara S, Hatta K, Eboshida A (2003) High contribution contrast between the genes of eosinophil peroxidase and IL-4 receptor alpha-chain in Japanese cedar pollinosis. J Allergy Clin Immunol 112:1127-1131
39. + T cell IL-4 production is revealed in IL-4 receptor-deficient mice. Proc Natl Acad Sci USA 94:10838-10843
40. Noguchi E, Shibasaki M, Arinami T, Takeda K, Yokouchi Y, Kobayashi K, Imoto N, Nakahara S, Matsui A, Hamaguchi H (1999a) Lack of association of atopy/asthma and the interleukin-4 receptor alpha gene in Japanese. Clin Exp Allergy 29:228-233
41. Noguchi E, Shibasaki M, Arinami T, Takeda K, Yokouchi Y, Kobayashi K, Imoto N, Nakahara S, Matsui A, Hamaguchi H (1999b) No association between atopy/asthma and the ILe50Val polymorphism of IL-4 receptor. Am J Respir Crit Care Med 160:342-345
42. Ober C, Leavitt SA, Tsalenko A, Howard TD, Hoki DM, Daniel R, Newman DL, Wu X, Parry R, Lester LA, Solway J, Blumenthal M, King RA, Xu J, Meyers DA, Bleecker ER, Cox NJ (2000) Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations. Am J Hum Genet 66:517-526
43. Pan PY, Rothman P (1999) IL-4 receptor mutations. Curr Opin Immunol 11:615-620
44. Patuzzo C, Trabetti E, Malerba G, Martinati LC, Boner AL, Pescollderungg L, Zanoni G, Pignatti PF (2000) No linkage or association of the IL-4Ralpha gene Q576R mutation with atopic asthma in Italian families. J Med Genet 37:382-384
45. Risma KA, Wang N, Andrews RP, Cunningham CM, Ericksen MB, Bernstein JA, Chakraborty R, Hershey GK (2002) V75R576 IL-4 receptor alpha is associated with allergic asthma and enhanced IL-4 receptor function. J Immunol 169:1604-1610
46. Rogala B, Rymarczyk B, Moczulski D, Grzeszczak W (2001) The role of R576Q polymorphism of interleukin-4 receptor alpha gene in atopy: results of a family-based study design. J Invest Allergol Clin Immunol 11:285-289
47. Ryan JJ, McReynolds LJ, Keegan A, Wang LH, Garfein E, Rothman P, Nelms K, Paul WE (1996) Growth and gene expression are predominantly controlled by distinct regions of the human IL-4 receptor. Immunity 4:123-132
48. Sasieni PD (1997) From genotypes to genes: doubling the sample size. Biometrics 53:1253-261
49. Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA (2002) Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 70:425-434
50. Schreiner S, Birke M, Garcia-Cuellar MP, Zilles O, Greil J, Slany RK (2001) MLL-ENL causes a reversible and myc-dependent block of myelomonocytic cell differentiation. Cancer Res 61:6480-6486
51. Smirnova I, Mann N, Dois A, Derkx HH, Hibberd ML, Levin M, Beutler B (2003) Assay of locus-specific genetic load implicates rare Toll-like receptor 4 mutations in meningococcal susceptibility. Proc Natl Acad Sci USA 100:6075-6080
52. Takabayashi A, Ihara K, Sasaki Y, Suzuki Y, Nishima S, Izuhara K, Hamasaki N, Hara T (2000) Childhood atopic asthma: positive association with a polymorphism of IL-4 receptor alpha gene but not with that of IL-4 promoter or Fc epsilon receptor I beta gene. Exp Clin Immunogenet 17:63-70
53. Tan EC, Lee BW, Tay AW, Shek L, Chew FT, Tay AH (1999) Interleukin-4 receptor variant Q576R: ethnic differences and association with atopy. Clin Genet 56:333-334
54. Thomas DC, Clayton DG (2004) Betting odds and genetic associations. J Natl Cancer Inst 96:421-423
55. Wacholder S, Chanock S, Garcia-Closas M, El Ghormli L, Rothman N (2004) Assessing the probability that a positive report is false: an approach for molecular epidemiology studies. J Natl Cancer Inst 96:434-442
56. Wang HY, Shelburne CP, Zamorano J, Kelly AE, Ryan JJ, Keegan AD (1999) Cutting edge: effects of an allergy-associated mutation in the human IL-4R alpha (Q576R) on human IL-4-induced signal transduction. J Immunol 162:4385-4389
57. Wills-Karp M, Ewart SL (2004) Time to draw breath: asthma-susceptibility genes are identified. Nat Rev Genet 5:376-387
58. Wjst M, Kruse S, Illig T, Deichmann K (2002) Asthma and IL-4 receptor alpha gene variants. Eur J Immunogenet 29:263-268