An IL-13 promoter polymorphism associated with increased risk of allergic asthma

Genes and Immunity

Volumn 1, Issue 1, 1999, Pages 61-65

  Van Der Pouw Kraan, T C T M ^a   Van Veen, A ^b   Boeije, L C M ^a   Van Tuyl, S A P ^a   De Groot, E R ^a   Stapel, S O ^d   Bakker, A ^c   Verweij, C L ^c   Aarden, L A ^a   Van Der Zee, J S ^b  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d NONE

Author keywords

Allergy and immunology; Cytokines; Genetics; Human; Th2 cells

Indexed keywords

DNA; INTERLEUKIN 13; PRIMER DNA;

ARTICLE; ASTHMA; BIOSYNTHESIS; CASE CONTROL STUDY; GENETIC POLYMORPHISM; GENETICS; GENOTYPE; HUMAN; IMMUNOLOGY; NUCLEOTIDE SEQUENCE; PROMOTER REGION; RISK FACTOR;

ASTHMA; BASE SEQUENCE; CASE-CONTROL STUDIES; DNA; DNA PRIMERS; GENOTYPE; HUMANS; INTERLEUKIN-13; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); RISK FACTORS;

EID: 0033188305     PISSN: 14664879     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.gene.6363630     Document Type: Article

References (41)

1. A genome-wide search for asthma susceptibility loci in ethnically diverse populations: the collaborative study on the genetics of asthma. Nat Genet 1997; 15: 389-392.
2. Barnes KC, Neely JD, Duffy DL, Freidhoff LR, Breazeale DR, Schou C. Linkage of asthma and total serum IgE concentration to markers on chromosome 12q: evidence from Afro-Caribbean and Caucasian populations. Genomics 1996; 37: 41-50.
3. Doull IJM, Lawrence S, Watson M, Begishvili T, Beasley RW, Lampe F. Allelic association of gene markers on chromosome 5q and 11q with atopy and bronchial hyperresponsiveness. Am J Respir Crit Care Med 1996; 153: 1280-1284.
4. Marsh DG, Neely JD, Breazeale DR, Ghosh B, Freidhoff LR, Ehrlich-Kautzky E. Linkage analysis of IL4 and other chromosome 5q31.1 markers and total serum immunoglobulin E concentrations. Science 1994; 264: 1152-1156.
5. Noguchi E, Shibasaki M, Arinami T, Takeda K, Maki T, Miyamoto T. Evidence for linkage between asthma/atopy in childhood and chromosome 5q31-q33 in a Japanese population. Am J Respir Crit Care Med 1997; 156: 1390-1393.
6. Postma DS, Bleecker ER, Amelung PJ, Holroyd KJ, Xu J, Panhuysen CIM. Genetic susceptibility to asthma-bronchial hyperresponsiveness coinherited with a major gene for atopy. New Eng J Med 1995; 333: 894-900.
7. Gorham JD, Güler ML, Steen RG, Mackey AJ, Daly MJ, Frederick K. Genetic mapping of a murine locus controlling development of T helper 1/T helper 2 type responses. Proc Natl Acad Sci USA 1996; 93: 12467-12472.
8. Marquet S, Abel L, Hillaire D, Dessein H, Kalil J, Feingold J. Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33. Nat Genet 1996; 14: 181-184.
9. Chariamonte MG, Schopf LR, Neben TY, Cheever AW, Donaldson DD, Wynn TA. IL-13 is a key regulatory cytokine for Th2 cell-mediated pulmonary granuloma formation and IgE responses induced by Schistosoma mansoni eggs. J Immunol 1999; 162: 920-930.
10. Defranee T, Carayon P, Billian G, Guillemot J, Minty A, Caput D. Interleukin 13 is a B cell stimulating factor. J Exp Med 1994; 179: 135-143.
11. Punnonen J, Aversa G, Cocks BG, McKenzie ANJ, Menon S, Zurawski G. Interleukin 13 induces interleukin 4-independent IgG4 and IgE synthesis and CD23 expression by human B cells. Proc Natl Acad Sci USA 1993; 90: 3730-3734.
12. Bochner BS, Klunk DA, Sterbinsky SA, Coffman RL, Schleimer RP. IL-13 selectively induces vascular cell adhesion molecule1 expression in human endothelial cells. J Immunol 1995; 154: 799-803.
13. Ying S, Meng Q, Barata LT, Robinson DS, Durham SR, Kay AB. Associations between IL-13 and IL-4 (mRNA and protein), Vascular Cell Adhesion Molecule-1 expression, and the infiltration of eosinophils, macrophages, and T cells in allergen-induced late-phase cutaneous reactions in atopic subjects. J Immunol 1997; 158: 5050-5057.
14. Grunig W, Warnock M, Wakil AE, Venkayya R, Brombacher F, Rennick DM. Requirement for IL-13 independently of IL-4 in experimental asthma. Science 1998; 282: 2261-2263.
15. Wills-Karp M, Luyimbazi J, Xu X, Schofield B, Neben TY, Karp CL. Interleukin-13: central mediator of allergic asthma. Science 1998; 282: 2258-2261.
16. Myers RM. Generation of single and double base substitutions in cloned DNA fragments. In: Miller JH, Calos MP (eds). Current Communications in Molecular Biology. Gene Transfer Vectors for Mammalian Cells. Cold Spring Harbor Laboratory: Cold Spnns Harbor, 1987, pp 46-56.
17. Zhu Z, Homer RJ, Wang Z, Chen Q, Geba GP, Wang J. Pulmonary expression of interleukin-13 causes inflammation, mucus hypersecretion, subepithelial fibrosis, physiologic abnormalities, and eotaxin production. J Clin Invest 1999; 103: 779-788.
18. Sornasse T, Larenas PV, Davis KA, De Vries JE, Yssel H. Differentiation and stability of T helper 1 and 2 cells derived from naive human neonatal CD4+ T cells, analyzed at the single cell level. J Exp Med 1996; 184: 473-483.
19. Zurawski G, De Vries JE. Interleukin 13, an interleukin 4-like cytokine that acts on monocytes and B cells, but not on T cells. Immunol Today 1994; 15: 19-26.
20. Del Prete GF, De Carli M, D'Elios MM, Maestrelli P, Ricci M, Fabbri L. Allergen exposure induces the activation of allergen-specific Th2 cells in the airway mucosa of patients with allergic respiratory disorders. Eur J Immunol 1993; 23: 1445-1449.
21. Humbert M, Durham SR, Kimmitt P, Powell N, Assoufi B, Pfister R. Elevated expression of messenger ribonucleic acid encoding IL-13 in the bronchial mucosa of atopic and nonatopic subjects with asthma. J Allergy Clin Immunol 1997; 99: 657-665.
22. Naseer T, Minshall EM, Leung DYM, Laberge S, Ernst P, Martin RJ. Expression of IL-12 and IL-13 mRNA in asthma and their modulation in response to steroid therapy. Am J Respir Crit Care Med 1997; 155: 845-851.
23. Robinson DS, Hamid Q, Yin S, Tsicopoulos A, Barkans J, Bentley AM. Predominant TH2-like bronchoalveolar T-lymphocyte population in atopic asthma. New Engl J Med 1992; 326: 298-304.
24. Hershey GKK, Friedrich MF, Esswein LA, Thomas ML, Chatila TA. The association of atopy with a gain of function mutation in the a subunit of the interleukin-4 receptor. New Engl J Med 1997; 337: 1720-1725.
25. Mitsuyasu H, Izuhara K, Mao X, Gao P, Arinobu Y, Enomoto T. Ile50Val variant of IL4Ralpha upregulates IgE synthesis and associates with atopic asthma. Nat Genet 1998; 19: 119-120.
26. Rosenwasser LJ, Klemm DJ, Dresback JK, Inamura H, Mascali JJ, Klinnert M. Promoter polymorphisms in the chromosome 5 gene cluster in asthma and atopy. Clin Exp Allergy 1995; 25 (Suppl 2): 74-78.
27. Song Z, Casolaro V, Chen R, Georas S, Monos D, Jeremy Ono S. Polymorphic nucleotides within the human IL-4 promoter that mediate overexpression of the gene. J Immunol 1996; 156: 424-429.
28. van der Pouw Kraan TCTM, Boeije LCM, Troon JTM, Rutschmann SK, Wijdenes J, Aarden LA. Human IL-13 production is negatively influenced by CD3 engagement. Enhancement of IL-13 production by Cyclosporin A. J Immunol 1996; 156: 1818-1823.
29. van der Pouw Kraan TCTM, van der Zee JS, Boeije LCM, De Groot ER, Stapel SO, Aarden LA. The role of IL-13 in IgE synthesis by allergic asthma patients. Clin Exp Immunol 1998; 111: 129-135.
30. Rao A. NF-ATp: a transcription factor required for the co-ordinate induction of several cytokine genes. Immunol Today 1994; 15: 274-281.
31. Hodge MR, Ranger AM, de la Brousse FC, Hoey T, Grusby MJ, Glimcher LH. Hyperproliferation and dysregulation of IL-4 expression in NF-ATp-deficient mice. Immunity 1996; 4: 397-405.
32. Kiani A, Viola JPB, Lichtman AH, Rao A. Down-regulation of IL-4 gene transcription and control of the Th2 cell differentiation by a mechanism involving NFAT1. Immunity 1997; 7: 849-860.
33. Jain J, Miner Z, Rao A. Analysis of the preexisting and nuclear forms of nuclear factor of activated T cells. J Immunol 1993; 151: 837-848.
34. Bix M, Locksley RM. Independent and epigenetic regulation of the interleukin-4 alleles in CD4+ T cells. Science 1998; 281: 1352-1354.
35. Holländer GA, Zuklys S, Morel C, Mizoguchi E, Mobisson K, Simpson S. Monoallelic expression of the interleukin-2 locus. Science 1998; 279: 2118-2121.
36. Riviere I, Sunshine MJ, Littman DR. Regulation of IL-4 expression by activation of individual alleles. Immunity 1998; 9: 217-228.
37. American Thoracic Society. Medical section of the American lung association. Standards for the diagnosis and care of patients with chronic obstructive pulmonary disease (COPD) and asthma. Am Rev Respir Dis 1987; 136: 225-244.
38. Delahunty C, Ankener W, Deng Q, Eng J, Nickerson D. Testing the feasibility of DNA typing for human identification by PCR and an Oligonucleotide Ligation Assay. Am J Hum Genet 1996; 58: 1239-1246.
39. Ohlsson H, Edland T. Sequence-specific interactions of nuclear factors with the insulin gene enhancer. Cell 1986; 11: 35-44.
40. Civil A, Bakker A, Rensink I, Doerre S, Aarden LA, Verweij CL. Nuclear appearance of a factor that binds the CD28 response element within the IL-2 enhancer correlates with IL-2 production. J Biol Chem 1996; 271: 8321-8327.
41. Rooney JW, Sun YL, Glimcher LH, Hoey T. Novel NFAT sites that mediate activation of the interleukin-2 promoter in response to T-cell receptor stimulation. Mol Cell Biol 1995; 15: 6299-6310.