Interleukin-18 genetics and inflammatory disease susceptibility

Genes and Immunity

Volumn 8, Issue 2, 2007, Pages 91-99

  Thompson, S R ^a   Humphries, S E ^a  

^a Rayne Institute   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 18; TRANSCRIPTION FACTOR;

ACUTE GRAFT VERSUS HOST DISEASE; ASTHMA; BINDING SITE; CROHN DISEASE; DISEASE CONTROL; DISEASE COURSE; GENE MAPPING; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; IMMUNOMODULATION; INFLAMMATORY DISEASE; INSULIN DEPENDENT DIABETES MELLITUS; JUVENILE RHEUMATOID ARTHRITIS; MULTIPLE SCLEROSIS; POPULATION GENETICS; PRIORITY JOURNAL; PROTEIN FUNCTION; REVIEW; RHEUMATOID ARTHRITIS; SINGLE NUCLEOTIDE POLYMORPHISM; ULCERATIVE COLITIS;

ARTHRITIS; ASTHMA; ATHEROSCLEROSIS; DIABETES MELLITUS, TYPE 1; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; GRAFT VS HOST DISEASE; HUMANS; INFLAMMATION; INFLAMMATORY BOWEL DISEASES; INTERLEUKIN-18; MULTIPLE SCLEROSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; SIGNAL TRANSDUCTION; VARIATION (GENETICS);

EID: 33847774601     PISSN: 14664879     EISSN: 14765470     Source Type: Journal    
DOI: 10.1038/sj.gene.6364366     Document Type: Review

References (77)

1. Breslow JL. Cardiovascular disease burden increases, NIH funding decreases. Nat Med 1997; 3: 600-601.
2. Ross R. Atherosclerosis - an inflammatory disease. N Engl J Med 1999; 340: 115-126.
3. Hansson GK. Immune mechanisms in atherosclerosis. Arterioscler Thromb Vasc Biol 2001; 21: 1876-1890.
4. Stoll G, Bendszus M. Inflammation and atherosclerosis: Novel insights into plaque formation and destabilization. Stroke 2006; 37: 1923-1932.
5. der Thusen JH, Kuiper J, van Berkel TJ, Biessen EA. Interleukins in atherosclerosis: Molecular pathways and therapeutic potential. Pharmacol Rev 2003; 55: 133-166.
6. Okamura H, Nagata K, Komatsu T, Tanimoto T, Nukata Y, Tanabe F et al. A novel costimulatory factor for gamma interferon induction found in the livers of mice causes endotoxic shock. Infect Immun 1995; 63: 3966-3972.
7. Okamura H, Tsutsi H, Komatsu T, Yutsudo M, Hakura A, Tanimoto T et al. Cloning of a new cytokine that induces IFN-gamma production by T cells. Nature 1995; 378: 88-91.
8. Ushio S, Namba M, Okura T, Hattori K, Nukada Y, Akita K et al. Cloning of the cDNA for human IFN-gamma-inducing factor, expression in Escherichia coli, and studies on the biologic activities of the protein. J Immunol 1996; 156: 4274-4279.
9. Tenen DG, Hromas R, Licht JD, Zhang DE. Transcription factors, normal myeloid development, and leukemia. Blood 1997; 90: 489-519.
10. Koyama N, Hoelzer D, Ottmann OG. Regulation of human IL-18 gene expression: Interaction of PU.1 with GC-box binding protein is involved in human IL-18 expression in myeloid cells. Eur J Immunol 2004; 34: 817-826.
11. Hoshino K, Tsutsui H, Kawai T, Takeda K, Nakanishi K, Takeda Y et al. Cutting edge: Generation of IL-18 recepEor-deficient mice: evidence for IL-1 receptor-related protein as an essential IL-18 binding receptor. J Immunol 1999; 162: 5041-5044.
12. Torigoe K, Ushio S, Okura T, Kobayashi S, Taniai M, Kunikata T et al. Purification and characterization of the human interleukin-18 receptor. J Biol Chem 1997; 272: 25737-25742.
13. Wu C, Sakorafas P, Miller R, McCarthy D, Scesney S, Dixon R et al. IL-18 receptor beta-induced changes in the presentation of IL-18 binding sites affect ligand binding and signal transduction. J Immunol 2003; 170: 5571-5577.
14. Adachi O, Kawai T, Takeda K, Matsumoto M, Tsutsui H, Sakagami M et al. Targeted disruption of the MyD88 gene results in loss of IL-1- and IL-18-mediated function. Immunity 1998; 9: 143-150.
15. Kojima H, Takeuchi M, Ohta T, Nishida Y, Arai N, Ikeda M et al. Interleukin-18 activates the IRAK-TRAF6 pathway in mouse EL-4 cells. Biochem Biophys Res Commun 1998; 244: 183-186.
16. Nakanishi K, Yoshimoto T, Tsutsui H, Okamura H. Interleukin-18 regulates both Th1 and Th2 responses. Annu Rev Immunol 2001; 19: 423-474.
17. Kojima H, Aizawa Y, Yanai Y, Nagaoka K, Takeuchi M, Ohta T et al. An essential role for NF-kappa B in IL-18-induced IFN-gamma expression in KG-1 cells. J Immunol 1999; 162: 5063-5069.
18. Matsumoto S, Tsuji-Takayama K, Aizawa Y, Koide K, Takeuchi M, Ohta T et al. Interleukin-18 activates NF-kappaB in murine T helper type 1 cells. Biochem Biophys Res Commun 1997; 234: 454-457.
19. Yu JJ, Tripp CS, Russell JH. Regulation and phenotype of an innate Th1 cell: Role of cytokines and the p38 kinase pathway. J Immunol 2003; 171: 6112-6118.
20. Novick D, Kim SH, Fantuzzi G, Reznikov LL, Dinarello CA, Rubinstein M. Interleukin-18 binding protein: A novel modulator of the Th1 cytokine response. Immunity 1999; 10: 127-136.
21. Reznikov LL, Kim SH, Westcott JY, Frishman J, Fantuzzi G, Novick D et al. IL-18 binding protein increases spontaneous and IL-1-induced prostaglandin production via inhibition of IFN-gamma. Proc Natl Acad Sci USA 2000; 97: 2174-2179.
22. Kim SH, Eisenstein M, Reznikov L, Fantuzzi G, Novick D, Rubinstein M et al. Structural requirements of six naturally occurring isoforms of the IL-18 binding protein to inhibit IL-18. Proc Natl Acad Sci USA 2000; 97: 1190-1195.
23. Higa S, Hirano T, Mayumi M, Hiraoka M, Ohshima Y, Nambu M et al. Association between interleukin-18 gene polymorphism 105A/C and asthma. Clin Exp Allergy 2003; 33: 1097-1102.
24. Arimitsu J, Hirano T, Higa S, Kawai M, Naka T, Ogata A et al. IL-18 gene polymorphisms affect IL-18 production capability by monocytes. Biochem Biophys Res Commun 2006; 342: 1413-1416.
25. Liang XH, Cheung W, Heng CK, Wang DY. Reduced transcriptional activity in individuals with IL-18 gene variants detected from functional but not association study. Biochem Biophys Res Commun 2005; 338: 736-741.
26. Giedraitis V, He B, Huang WX, Hillert J. Cloning and mutation analysis of the human IL-18 promoter: A possible role of polymorphisms in expression regulation. J Neuroimmunol 2001; 112: 146-152.
27. Tiret L, Godefroy T, Lubos E, Nicaud V, Tregouet DA, Barbaux S et al. Genetic analysis of the interleukin-18 system highlights the role of the interleukin-18 gene in cardiovascular disease. Circulation 2005; 112: 643-650.
28. Blankenberg S, Tiret L, Bickel C, Peetz D, Cambien F, Meyer J et al. Interleukin-18 is a strong predictor of cardiovascular death in stable and unstable angina. Circulation 2002; 106: 24-30.
29. Blankenberg S, Luc G, Ducimetiere P, Arveiler D, Ferrieres J, Amouyel P et al. Interleukin-18 and the risk of coronary heart disease in European men: The Prospective Epidemiological Study of Myocardial Infarction (PRIME). Circulation 2003; 108: 2453-2459.
30. Chambless LE, Heiss G, Folsom AR, Rosamond W, Szklo M, Sharrett AR et al. Association of coronary heart disease incidence with carotid arterial wall thickness and major risk factors: The Atherosclerosis Risk in Communities (ARIC) Study, 1987-1993. Am J Epidemiol 1997; 146: 483-494.
31. Yamagami H, Kitagawa K, Hoshi T, Furukado S, Hougaku H, Nagai Y et al. Associations of serum IL-18 levels with carotid intima-media thickness. Arterioscler Thromb Vasc Biol 2005; 25: 1458-1462.
32. Seta Y, Kanda T, Tanaka T, Arai M, Sekiguchi K, Yokoyama T et al. Interleukin 18 in acute myocardial infarction. Heart 2000; 84: 668.
33. Frigerio S, Hollander GA, Zumsteg U. Functional IL-18 is produced by primary pancreatic mouse islets and NIT-1 beta cells and participates in the progression towards destructive insulitis. Horm Res 2002; 57: 94-104.
34. Lukic ML, Mensah-Brown E, Wei X, Shahin A, Liew FY. Lack of the mediators of innate immunity attenuate the development of autoimmune diabetes in mice. J Autoimmun 2003; 21: 239-246.
35. Nicoletti F, Conget I, Di Marco R, Speciale AM, Morinigo R, Bendtzen K et al. Serum levels of the interferon-gamma-inducing cytokine interleukin-18 are increased in individuals at high risk of developing type I diabetes. Diabetologia 2001; 44: 309-311.
36. Nicoletti F, Di Marco R, Papaccio G, Conget I, Gomis R, Bernardini R et al. Essential pathogenic role of endogenous IL-18 in murine diabetes induced by multiple low doses of streptozotocin. Prevention of hyperglycemia and insulitis by a recombinant IL-18-binding protein: Fc construct. Eur J Immunol 2003; 33: 2278-2286.
37. Rothe H, Jenkins NA, Copeland NG, Kolb H. Active stage of autoimmune diabetes is associated with the expression of a novel cytokine, IGIF, which is located near Idd2. J Clin Invest 1997; 99: 469-474.
38. Kretowski A, Mironczuk K, Karpinska A, Bojaryn U, Kinalski M, Puchalski Z et al. Interleukin-18 promoter polymorphisms in type 1 diabetes. Diabetes 2002; 51: 3347-3349.
39. Ide A, Kawasaki E, Abiru N, Sun F, Kobayashi M, Fukushima T et al. Association between IL-18 gene promoter polymorphisms and CTLA-4 gene 49A/G polymorphism in Japanese patients with type 1 diabetes. J Autoimmun 2004; 22: 73-78.
40. Szeszko JS, Howson JM, Cooper JD, Walker NM, Twells RC, Stevens HE et al. Analysis of polymorphisms of the interleukin-18 gene in type 1 diabetes and Hardy-Weinberg equilibrium testing. Diabetes 2006; 55: 559-562.
41. Xu J, Turner A, Little J, Bleecker ER, Meyers DA. Positive results in association studies are associated with departure from Hardy-Weinberg equilibrium: Hint for genotyping error? Hum Genet 2002; 111: 573-574.
42. Schaid DJ, Jacobsen SJ. Biased tests of association: Comparisons of allele frequencies when departing from Hardy-Weinberg proportions. Am J Epidemiol 1999; 149: 706-711.
43. Deng HW, Chen WM. Re: 'BCased tests of association: comparisons of allele frequencies when departing from Hardy-Weinberg proportions'. Am J Epidemiol 2000; 151: 335-337.
44. Fallin D, Schork NJ. Accuracy of haplotype frequency estimation for biallelic loci, via the expectation-maximization algorithm for unphased diploid genotype data. Am J Hum Genet 2000; 67: 947-959.
45. Martin RJ, Savage DA, Carson DJ, Maxwell AP, Patterson CC. Interleukin 18 promoter polymorphisms are not strongly associated with type I diabetes in a UK population. Genes Immun 2005; 6: 171-174.
46. Mojtahedi Z, Naeimi S, Farjadian S, Omrani GR, Ghaderi A. Association of IL-18 promoter polymorphisms with predisposition to type 1 diabetes. Diabet Med 2006; 23: 235-239.
47. Huang WX, Huang P, Hillert J. Increased expression of caspase-1 and interleukin-18 in peripheral blood mononuclear cells in patients with multiple sclerosis. Mult Scler 2004; 10: 482-487.
48. Karni A, Koldzic DN, Bharanidharan P, Khoury SJ, Weiner HL. IL-18 is linked to raised IFN-gamma in multiple sclerosis and is induced by activated CD4(+) T cells via CD40-CD40 ligand interactions. J Neuroimmunol 2002; 125: 134-140.
49. Losy J, Niezgoda A. IL-18 in patients with multiple sclerosis. Acta Neurol Scand 2001; 104: 171-173.
50. Nicoletti F, Di Marco R, Mangano K, Patti F, Reggio E, Nicoletti A et al. Increased serum levels of interleukin-18 in patients with multiple sclerosis. Neurology 2001; 57: 342-344.
51. Yamamura M, Kawashima M, Taniai M, Yamauchi H, Tanimoto T, Kurimoto M et al. Interferon-gamma-inducing activity of interleukin-18 in the joint with rheumatoid arthritis. Arthritis Rheum 2001; 44: 275-285.
52. Petty RE, Southwood TR, Baum J, Bhettay E, Glass DN, Manners P et al. Revision of the proposed classification criteria for juvenile idiopathic arthritis: Durban, 1997. J Rheumatol 1998; 25: 1991-1994.
53. Maeno N, Takei S, Nomura Y, Imanaka H, Hokonohara M, Miyata K. Highly elevated serum levels of interleukin-18 in systemic juvenile idiopathic arthritis but not in other juvenile idiopathic arthritis subtypes or in Kawasaki disease: Comment on the article by Kawashima et al. Arthritis Rheum 2002; 46: 2539-2541.
54. Sivalingam SP, Yoon KH, Koh DR, Fong KY. Single-nucleotide polymorphisms of the interleukin-18 gene promoter region in rheumatoid arthritis patients: Protective effect of AA genotype. Tissue Antigens 2003; 62: 498-504.
55. Gracie JA, Koyama N, Murdoch J, Field M, McGarry F, Crilly A et al. Disease association of two distinct interleukin-18 promoter polymorphisms in Caucasian rheumatoid arthritis patients. Genes Immun 2005; 6: 211-216.
56. Rueda B, Gonzalez-Gay MA, Mataran L, Lopez-Nevot MA, Martin J. Interleukin-18-promoter polymorphisms are not relevant in rheumatoid arthritis. Tissue Antigens 2005; 65: 544-548.
57. Pawlik A, Kurzawski M, Czerny B, Gawronska-Szklarz B, Drozdzik M, Herczynska M. Interleukin-18 promoter polymorphism in patients with rheumatoid arthritis. Tissue Antigens 2006; 67: 415-418.
58. Heinzmann A, Gerhold K, Ganter K, Kurz T, Schuchmann L, Keitzer R et al. Association study of polymorphisms within interleukin-18 in juvenile idiopathic arthritis and bronchial asthma. Allergy 2004; 59: 845-849.
59. Sugiura T, Maeno N, Kawaguchi Y, Takei S, Imanaka H, Kawano Y et al. A promoter haplotype of the interleukin-18 gene is associated with juvenile idiopathic arthritis in the Japanese population. Arthritis Res Ther 2006; 8: R60.
60. Tanaka H, Miyazaki N, Oashi K, Teramoto S, Shiratori M, Hashimoto M et al. IL-18 might reflect disease activity in mild and moderate asthma exacerbation. J Allergy Clin Immunol 2001; 107: 331-336.
61. Wong CK, Ho CY, Ko FW, Chan CH, Ho AS, Hui DS et al. Proinflammatory cytokines (IL-17, IL-6, IL-18 and IL-12) and Th cytokines (IFN-gamma, IL-4, IL-10 and IL-13) in patients with allergic asthma. Clin Exp Immunol 2001; 125: 177-183.
62. El Mezzein RE, Matsumoto T, Nomiyama H, Miike T. Increased secretion of IL-18 in vitro by peripheral blood mononuclear cells of patients with bronchial asthma and atopic dermatitis. Clin Exp Immunol 2001; 126: 193-198.
63. Tanaka T, Tsutsui H, Yoshimoto T, Kotani M, Matsumoto M, Fujita A et al. Interleukin-18 is elevated in the sera from patients with atopic dermatitis and from atopic dermatitis model mice, NC/Nga. Int Arch Allergy Immunol 2001; 125: 236-240.
64. Higashi N, Gesser B, Kawana S, Thestrup-Pedersen K. Expression of IL-18 mRNA and secretion of IL-18 are reduced in monocytes from patients with atopic dermatitis. J Allergy Clin Immunol 2001; 108: 607-614.
65. Shin HD, Kim LH, Park BL, Choi YH, Park HS, Hong SJ et al. Association of interleukin 18 (IL18) polymorphisms with specific IgE levels to mite allergens among asthmatic patients. Allergy 2005; 60: 900-906.
66. Martin BW, Ackermann-Liebrich U, Leuenberger P, Kunzli N, Stutz EZ, Keller R et al. SAPALDIA: Methods and participation in the cross-sectional part of the Swiss Study on air pollution and lung diseases in adults. Soz Pravent Med 1997; 42: 67-84.
67. Ackermann-Liebrich U, Leuenberger P, Schwartz J, Schindler C, Monn C, Bolognini G et al. Lung function and long term exposure to air pollutants in Switzerland. Study on Air Pollution and Lung Diseases in Adults (SAPALDIA) Team. Am J Resp Crit Care Med 1997; 155: 122-129.
68. Takeuchi M, Nishizaki Y, Sano O, Ohta T, Ikeda M, Kurimoto M. Immunohistochemical and immuno-electron-microscopic detection of interferon-gamma-inducing factor ('interleukin-18') in mouse intestinal epithelial cells. Cell Tissue Res 1997; 289: 499-503.
69. Tamura K, Fukuda Y, Sashio H, Takeda N, Bamba H, Kosaka T et al. IL18 polymorphism is associated with an increased risk of Crohn's disease. J Gastroenterol 2002; 37 (Suppl 14): 111-116.
70. Glas J, Torok HP, Tonenchi L, Kapser J, Schiemann U, Muller-Myhsok B et al. Association of polymorphisms in the interleukin-18 gene in patients with Crohn's disease depending on the CARD15/NOD2 genotype. Inflamm Bowel Dis 2005; 11: 1031-1037.
71. Ferrara JL, Cooke KR, Pan L, Krenger W. The immunopathophysiology of acute graft-versus-host-disease. Stem Cells 1996; 14: 473-489.
72. Hu HZ, Li GL, Lim YK, Chan SH, Yap EH. Kinetics of interferon-gamma secretion and its regulatory factors in the early phase of acute graft-versus-host disease. Immunology 1999; 98: 379-385.
73. Fujimori Y, Takatsuka H, Takemoto Y, Hara H, Okamura H, Nakanishi K et al. Elevated interleukin (IL)-18 levels during acute graft-versus-host disease after allogeneic bone marrow transplantation. Br J Haematol 2000; 109: 652-657.
74. Nakamura H, Komatsu K, Ayaki M, Kawamoto S, Murakami M, Uoshima N et al. Serum levels of soluble IL-2 receptor, IL-12, IL-18, and IFN-gamma in patients with acute graft-versus-host disease after allogeneic bone marrow transplantation. J Allergy Clin Immunol 2000; 106: S45-S50.
75. Reddy P, Teshima T, Kukuruga M, Ordemann R, Liu C, Lowler K et al. Interleukin-18 regulates acute graft-versus-host disease by enhancing Fas-mediated donor T cell apoptosis. J Exp Med 2001; 194: 1433-1440.
76. Reddy P, Teshima T, Hildebrandt G, Williams DL, Liu C, Cooke KR et al. Pretreatment of donors with interleukin-18 attenuates acute graft-versus-host disease via STAT6 and preserves graft-versus-leukemia effects. Blood 2003; 101: 2877-2885.
77. Cardoso SM, DeFor TE, Tilley LA, Bidwell JL, Weisdorf DJ, MacMillan ML. Patient interleukin-18 GCG haplotype associates with improved survival and decreased transplant-related mortality after unrelated-donor bone marrow transplantation. Br J Haematol 2004; 126: 704-710.