Polymorphisms of interleukin (IL)-4 receptor alpha and signal transducer and activator of transcription-6 (Stat6) are associated with increased IL-4Rα-Stat6 signalling in lymphocytes and elevated serum IgE in patients with Graves' disease

Clinical and Experimental Immunology

Volumn 148, Issue 3, 2007, Pages 425-431

  Yabiku, K ^a   Hayashi, M ^a   Komiya, I ^a   Yamada, T ^b   Kinjo, Y ^a   Ohshiro, Y ^a   Kouki, T ^a   Takasu, N ^a  

^a UNIVERSITY OF THE RYUKYUS SCHOOL OF MEDICINE   (Japan)

^b TOKYO UNIVERSITY OF SCIENCE   (Japan)

Author keywords

Graves' disease; IgE; Interleukin 4 receptor alpha; Polymorphisms; Stat6

Indexed keywords

IMMUNOGLOBULIN E; INTERLEUKIN 4 RECEPTOR ALPHA; STAT6 PROTEIN;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GRAVES DISEASE; HUMAN; HUMAN CELL; IMMUNOGLOBULIN BLOOD LEVEL; LYMPHOCYTE; LYMPHOCYTE CULTURE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; WESTERN BLOTTING;

ADOLESCENT; ADULT; AGED; BLOTTING, WESTERN; CELLS, CULTURED; FEMALE; GENE FREQUENCY; GRAVES DISEASE; HUMANS; IMMUNOGLOBULIN E; INTERLEUKIN-4 RECEPTOR ALPHA SUBUNIT; LYMPHOCYTES; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; SIGNAL TRANSDUCTION; STAT6 TRANSCRIPTION FACTOR;

EID: 34247868817     PISSN: 00099104     EISSN: 13652249     Source Type: Journal    
DOI: 10.1111/j.1365-2249.2007.03366.x     Document Type: Article

References (33)

1. Burrows B, Martinez FD, Halonen M, Barbee RA, Cline MG. Association of asthma with serum IgE levels and skin-test reactivity to allergens. N Engl J Med 1989 320:271 7.
2. Sears MR, Burrows B, Flannery EM, Herbison GP, Hewitt CJ, Holdaway MD. Relation between airway responsiveness and serum IgE in children with asthma and in apparently normal children. N Engl J Med 1991 325:1067 71.
3. Sutton BJ, Gould HJ. The human IgE network. Nature 1993 366:421 8.
4. Takeda K, Tanaka T, Shi W et al. Essential role of Stat6 in IL-4 signalling. Nature 1996 380:627 30.
5. Shimoda K, van Deursen J, Sangster MY et al. Lack of IL-4-induced Th2 response and IgE class switching in mice with disrupted Stat6 gene. Nature 1996 380:630 3.
6. Grunig G, Warnock M, Wakil AE et al. Requirement for IL-13 independently of IL-4 in experimental asthma. Science 1998 282:2261 3.
7. Lowenthal JW, Castle BE, Christiansen J et al. Expression of high affinity receptors for murine interleukin 4 (BSF-1) on hemopoietic and nonhemopoietic cells. J Immunol 1988 140:456 64.
8. Murata T, Taguchi J, Puri RK. Interleukin-13 receptor alpha but not alpha chain: a functional component of interleukin-4 receptors. Blood 1998 91:3884 91.
9. Hilton DJ, Zhang JG, Metcalf D, Alexander WS, Nicola NA, Wilson TA. Cloning and characterization of a binding subunit of the interleukin 13 receptor that is also a component of interleukin 4 receptor. Proc Natl Acad Sci USA 1996 93:497 501.
10. Kotanides H, Reich NC. Requirement of tyrosine phosphorylation for rapid activation of a DNA binding factor by IL-4. Science 1993 262:1265 7.
11. Fenghao X, Saxon A, Nguyen A, Ke Z, Diaz-Sanchez D, Nel A. Interleukin 4 activates a signal transducer and activator of transcription (Stat) protein which interacts with an interferon-gamma activation site-like sequence upstream of the I epsilon exon in a human B cell line. Evidence for the involvement of janus kinase 3 and interleukin-4 Stat. J Clin Invest 1995 96:907 14.
12. Lin JX, Migone TS, Tsang M et al. The role of shared receptor motifs and common Stat proteins in the generation of cytokine pleiotrophy and redundancy of IL-2, IL-4, IL-7, IL-13, and IL-15. Immunity 1995 2:331 9.
13. Kaplan MH, Schindler U, Smiley ST, Grusby MJ. Stat6 is required for mediating responses to IL-4 and for development of Th2 cells. Immunity 1996 4:313 9.
14. Carballido JM, Schols D, Namikawa R et al. IL-4 induces human B cell maturation and IgE synthesis in SCID-hu mice. Inhibition of ongoing IgE production by in vivo treatment with an IL-4/IL-13 receptor antagonist. J Immunol 1995 155:4162 70.
15. Kuperman D, Schofield B, Wills-Karp M, Grusby MJ. Signal transducer and activator of transcription factor 6 (Stat6)-deficient mice are protected from antigen-induced airway hyperresponsiveness and mucus production. J Exp Med 1998 187:939 48.
16. Mitsuyasu H, Izuhara K, Mao X-Q et al. Ile50Val variant of IL4R alpha upregulates IgE synthesis and associated with atopic asthma. Nature Genet 1998 19:119 20.
17. Hershey GK, 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 Engl J Med 1997 337:1720 5.
18. Hackstein H, Hecker M, Kruse S, Bohnert A, Ober C, Deichmann KA, Bein G. 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 2001 53:264 9.
19. Noguchi E, Shibasaki M, Arinami T et al. No association between atopy/asthma and the Ile50Val polymorphism of IL-4 receptor. Am J Resp Crit Care Med 1999 160:342 5.
20. Youn J, Hwang SH, Cho CS et al. Association of the interleukin-4 receptor alpha variant Q576R with Th1/Th2 imbalance in connective tissue disease. Immunogenetics 2000 51:743 6.
21. Tamura K, Arakawa H, Suzuki M et al. Novel dinucleotide repeat polymorphism in the first exon of the STAT-6 gene is associated with allergic diseases. Clin Exp Allergy 2001 31:1509 14.
22. Gao PS, Heller NM, Walker W et al. Variation in dinucleotide (GT) repeat sequence in the first exon of the STAT6 gene is associated with atopic asthma and differentially regulates the promoter activity in vitro. J Med Genet 2004 41:535 9.
23. Kriss JP. Inactivation of long-acting thyroid stimulator (LATS) by anti-kappa and anti-lambda antisera. J Clin Endocrinol Metab 1968 28:1440 4.
24. Sato A, Yamada T, Takemura Y et al. A possible role of immunoglobulin E in patients with hyperthyroid Graves' disease. J Clin Endocrinol Metab 1999 84:3602 5.
25. Yamada T, Sato A, Komiya I et al. An elevation of serum immunoglobulin E provides a new aspect of hyperthyroid Graves' disease. J Clin Endocrinol Metab 2000 85:2775 8.
26. Komiya I, Yamada T, Sato A, Kouki T, Nishimori T, Takasu N. Remission and recurrence of hyperthyroid Graves' disease during and after thiamazole treatment when assessed by IgE and interleukin 13. J Clin Endocrinol Metab 2001 86:3540 4.
27. Zurawski SM, Vega F Jr., Huyghe B, Zurawski G. Receptors for interleukin-13 and interleukin-4 are complex and share a novel component that functions in signal transduction. EMBO J 1993 12:2663 70.
28. Mitsuyasu H, Yanagihara Y, Mao XQ et al. Dominant effect of Ile50Val variant of human IL-4 receptor alpha-chain in IgE synthesis. J Immunol 1999 162:1227 31.
29. Schulte T, Kurrle RR, Röllingholff M, Gessner A. Molecular characterization and functional analysis of murine interleukin 4 receptor allotypes. J Exp Med 1997 186:1419 29.
30. Patel BK, Keck CL, O'Leary RS, Popescu NC, LaRochelle WJ. Localization of the human stat6 gene to chromosome 12q13·3-q14·1, a region implicated in multiple solid tumors. Genomics 1998 52:192 200.
31. Gebhardt F, Zanker KS, Brandt B. Modulation of epidermal growth factor receptor gene transcription by a polymorphic dinucleotide repeat in intron 1. J Biol Chem 1999 274:13176 80.
32. Okladnova O, Syagailo YV, St Tranitz M et al. A promoter associated polymorphic repeat modulates PAX-6 expression in human brain. Biochem Biophys Res Comms 1998 248:402 5.
33. Searle S, Blackwell JM. Evidence for a functional repeat polymorphism in the promoter of the human NRAMP1 gene that correlates with autoimmune verses infectious disease susceptibility. J Med Genet 1999 36:295 9.