Polymorphisms of IL-1B, IL-1RN, IL-2, IL-4, IL-6, IL-10, and IFN-γ genes in the Korean population

Human Immunology

Volumn 64, Issue 10, 2003, Pages 979-989

  Pyo, Chul Woo ^a   Hur, Seong Suk ^a   Kim, Yang Kyum ^a   Choi, Hee Baeg ^a   Hong, Young Sun ^a   Kim, Dong Wook ^a   Kim, Chun Choo ^a   Kim, Hack Ki ^a   Kim, Tai Gyu ^a  

^a The Catholic University of Korea   (South Korea)

Author keywords

Cytokine; Korean; Polymorphism

Indexed keywords

GAMMA INTERFERON; INTERLEUKIN 1; INTERLEUKIN 10; INTERLEUKIN 1BETA; INTERLEUKIN 1RN; INTERLEUKIN 2; INTERLEUKIN 4; INTERLEUKIN 4 RECEPTOR; INTERLEUKIN 4 RECEPTOR ALPHA; INTERLEUKIN 6; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; ASIAN; AUTOIMMUNE DISEASE; AUTOIMMUNITY; CANCER IMMUNOLOGY; CYTOKINE PRODUCTION; DISEASE PREDISPOSITION; DNA POLYMORPHISM; GENE; GENOTYPE; GRAFT REJECTION; HAPLOTYPE; HISTOCOMPATIBILITY; HUMAN; IMMUNE RESPONSE; IMMUNOREGULATION; INFLAMMATION; KOREA; MALIGNANT NEOPLASTIC DISEASE; NORMAL HUMAN; POPULATION GENETICS; PRIORITY JOURNAL;

EID: 0141753984     PISSN: 01988859     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0198-8859(03)00173-3     Document Type: Article

References (78)

1. Turner D, Grant SC, Yonan N, Sheldon S, Dyer PA, Sinnott PJ, Hutchinson IV: Cytokine gene polymorphism and heart transplant rejection. Transplantation 64:776, 1997.
2. Brinkman BM, Huizinga TW, Kurban SS, van der Velde EA, Schreuder GM, Hazes JM, Breedveld FC, Verweij CL: Tumour necrosis factor alpha gene polymorphisms in rheumatoid arthritis: association with susceptibility to, or severity of, disease? Br J Rheumatol 36:516, 1997.
3. Huizinga TW, Westendorp RG, Bollen EL, Keijsers V, Brinkman BM, Langermans JA, Breedveld FC, Verweij CL, van de Gaer L, Dams L, Crusius JB, Garcia-Gonzalez A, van Oosten BW, Polman CH, Pena AS: TNF-alpha promoter polymorphisms, production and susceptibility to multiple sclerosis in different groups of patients. J Neuroimmunol 72:149, 1997.
4. Vinasco J, Beraun Y, Nieto A, Fraile A, Mataran L, Pareja E, Martin J: Polymorphism at the TNF loci in rheumatoid arthritis. Tissue Antigens 49:74, 1997.
5. Demeter J, Porzsolt F, Ramisch S, Schmid M, Messer G: Polymorphism of the tumour necrosis factor-alpha and lymphotoxin-alpha genes in hairy cell leukaemia. Br J Haematol 97:132, 1997.
6. Shimura T, Hagihara M, Takebe K, Munkhbat B, Odaka T, Kato H, Nagamachi Y, Tsuji K: The study of tumor necrosis factor beta gene polymorphism in lung cancer patients. Cancer 73:1184, 1994.
7. Shimura T, Hagihara M, Takebe K, Munkhbat B, Ogoshi K, Mitomi T, Nagamachi Y, Tsuji K: 10.5-kb homozygote of tumor necrosis factor-beta gene is associated with a better prognosis in gastric cancer patients. Cancer 75:1450, 1995.
8. Arend WP, Malyak M, Guthridge CJ, Gabay C: Interleukin-1 receptor antagonist: role in biology. Annu Rev Immunol 16:27, 1998.
9. Dinarello CA: Biologic basis for interleukin-1 in disease. Blood 87:2095, 1996.
10. Bailly S, di Giovine FS, Duff GW: Polymorphic tandem repeat region in interleukin-1 alpha intron 6. Hum Genet 91:85, 1993.
11. di Giovine FS, Takhsh E, Blakemore AI, Duff GW: Single base polymorphism at -511 in the human interleukin-1 beta gene (IL1 beta). Hum Mol Genet 1:450, 1992.
12. Tarlow JK, Blakemore AI, Lennard A, Solari R, Hughes HN, Steinkasserer A, Duff GW: Polymorphism in human IL-1 receptor antagonist gene intron 2 is caused by variable numbers of an 86-bp tandem repeat. Hum Genet 91:403, 1993.
13. Bidwell JL, Wood NA, Morse HR, Olomolaiye OO, Laundy GJ: Human cytokine gene nucleotide sequence alignments, 1998. Eur J Immunogenet 25:83, 1998.
14. Pociot F, Molvig J, Wogensen L, Worsaae H, Nerup J: A TaqI polymorphism in the human interleukin-1 beta (IL-1 beta) gene correlates with IL-1 beta secretion in vitro. Eur J Clin Invest 22:396, 1992.
15. Santtila S, Savinainen K, Hurme M: Presence of the IL-1RA allele 2 (IL1RN*2) is associated with enhanced IL-1beta production in vitro. Scand J Immunol 47:195, 1998.
16. Basso D, Scrigner M, Toma A, Navaglia F, Di Mario F, Rugge M, Plebani M: Helicobacter pylori infection enhances mucosal interleukin-1 beta, interleukin-6, and the soluble receptor of interleukin-2. Int J Clin Lab Res 26:207, 1996.
17. Blakemore AI, Tarlow JK, Cork MJ, Gordon C, Emery P, Duff GW: Interleukin-1 receptor antagonist gene polymorphism as a disease severity factor in systemic lupus erythematosus. Arthritis Rheum 37:1380, 1994.
18. Blakemore AI, Cox A, Gonzalez AM, Maskil JK, Hughes ME, Wilson RM, Ward JD, Duff GW: Interleukin-1 receptor antagonist allele (IL1RN*2) associated with nephropathy in diabetes mellitus. Hum Genet 97:369, 1996.
19. Clay FE, Cork MJ, Tarlow JK, Blakemore AI, Harrington CI, Lewis F, Duff GW: Interleukin 1 receptor antagonist gene polymorphism association with lichen sclerosus. Hum Genet 94:407, 1994.
20. El-Omar EM, Carrington M, Chow WH, McColl KE, Bream JH, Young HA, Herrera J, Lissowska J, Yuan CC, Rothman N, Lanyon G, Martin M, Fraumeni Jr JF, Rabkin CS: Interleukin-1 polymorphisms associated with increased risk of gastric cancer. Nature 404:398, 2000.
21. Jung HC, Kim JM, Song IS, Kim CY: Helicobacter pylori induces an array of pro-inflammatory cytokines in human gastric epithelial cells: quantification of mRNA for interleukin-8, -1 alpha/beta, granulocyte-macrophage colony-stimulating factor, monocyte chemoattractant protein-1 and tumour necrosis factor-alpha. J Gastroenterol Hepatol 12:473, 1997.
22. Mansfield JC, Holden H, Tarlow JK, Di Giovine FS, McDowell TL, Wilson AG, Holdsworth CD, Duff GW: Novel genetic association between ulcerative colitis and the anti-inflammatory cytokine interleukin-1 receptor antagonist. Gastroenterology 106:637, 1994.
23. Seder RA, Paul WE: Acquisition of lymphokine-producing phenotype by CD4+ T cells. Annu Rev Immunol 12:635, 1994.
24. John S, Turner D, Donn R, Sinnott P, Worthington J, Ollier WE, Hutchinson IV, Hajeer AH: Two novel biallelic polymorphisms in the IL-2 gene. Eur J Immunogenet 25:419, 1998.
25. Hoffmann SC, Stanley EM, Darrin Cox E, Craighead N, DiMercurio BS, Koziol DE, Harlan DM, Kirk AD, Blair PJ: Association of cytokine polymorphic inheritance and in vitro cytokine production in anti-CD3/CD28-stimulated peripheral blood lymphocytes. Transplantation 72:1444, 2001.
26. Vercelli D: Regulation of IgE synthesis. Allergy Proc 14:413, 1993.
27. Vercelli D, De Monte L, Monticelli S, Di Bartolo C, Agresti A: To E or not to E? Can an IL-4-induced B cell choose between IgE and IgG4? Int Arch Allergy Immunol 116:1, 1998.
28. Rosenwasser LJ, Klemm DJ, Dresback JK, Inamura H, Mascali JJ, Klinnert M, Borish L: Promoter polymorphisms in the chromosome 5 gene cluster in asthma and atopy. Clin Exp Allergy 25:74, 1995.
29. 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 337:1720, 1997.
30. Yudkin JS, Kumari M, Humphries SE, Mohamed-Ali V: Inflammation, obesity, stress and coronary heart disease: is interleukin-6 the link? Atherosclerosis 148:209, 2000.
31. Olomolaiye O, Wood NA, Bidwell JL: A novel NlaIII polymorphism in the human IL-6 promoter. Eur J Immunogenet 25:267, 1998.
32. Fishman D, Faulds G, Jeffery R, Mohamed-Ali V, Yudkin JS, Humphries S, Woo P: The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis. J Clin Invest 102:1369, 1998.
33. Groux H, Bigler M, de Vries JE, Roncarolo MG: Interleukin-10 induces a long-term antigen-specific anergic state in human CD4+ T cells. J Exp Med 184:19, 1996.
34. Groux H, Bigler M, de Vries JE, Roncarolo MG: Inhibitory and stimulatory effects of IL-10 on human CD8+ T cells. J Immunol 160:3188, 1998.
35. Moore KW, O'Garra A, de Waal Malefyt R, Vieira P, Mosmann TR: Interleukin-10. Annu Rev Immunol 11:165, 1993.
36. Hajeer AH, Lazarus M, Turner D, Mageed RA, Vencovsky J, Sinnott P, Hutchinson IV, Ollier WE: IL-10 gene promoter polymorphisms in rheumatoid arthritis. Scand J Rheumatol 27:142, 1998.
37. Lazarus M, Hajeer AH, Turner D, Sinnott P, Worthington J, Ollier WE, Hutchinson IV: Genetic variation in the interleukin 10 gene promoter and systemic lupus erythematosus. J Rheumatol 24:2314, 1997.
38. Hulkkonen J, Pertovaara M, Antonen J, Lahdenpohja N, Pasternack A, Hurme M: Genetic association between interleukin-10 promoter region polymorphisms and primary Sjogren's syndrome. Arthritis Rheum 44:176, 2001.
39. Asderakis A, Sankaran D, Dyer P, Johnson RW, Pravica V, Sinnott PJ, Roberts I, Hutchinson IV: Association of polymorphisms in the human interferon-gamma and interleukin-10 gene with acute and chronic kidney transplant outcome: the cytokine effect on transplantation. Transplantation 71:674, 2001.
40. Turner DM, Williams DM, Sankaran D, Lazarus M, Sinnott PJ, Hutchinson IV: An investigation of polymorphism in the interleukin-10 gene promoter. Eur J Immunogenet 24:1, 1997.
41. Belardelli F: Role of interferons and other cytokines in the regulation of the immune response. APMIS 103:161, 1995.
42. Muller U, Steinhoff U, Reis LF, Hemmi S, Pavlovic J, Zinkernagel RM, Aguet M: Functional role of type I and type II interferons in antiviral defense. Science 264:1918, 1994.
43. Ruiz-Linares A: Dinucleotide repeat polymorphism in the interferon-gamma (IFNG) gene. Hum Mol Genet 2:1508, 1993.
44. Pravica V, Asderakis A, Perrey C, Hajeer A, Sinnott PJ, Hutchinson IV: In vitro production of IFN-gamma correlates with CA repeat polymorphism in the human IFN-gamma gene. Eur J Immunogenet 26:1, 1999.
45. Pravica V, Perrey C, Stevens A, Lee JH, Hutchinson IV: A single nucleotide polymorphism in the first intron of the human IFN-gamma gene: absolute correlation with a polymorphic CA microsatellite marker of high IFN-gamma production. Hum Immunol 61:863, 2000.
46. Pociot F, Veijola R, Johannesen J, Hansen PM, Lorenzen T, Karlsen AE, Reijonen H, Knip M, Nerup J: Analysis of an interferon-gamma gene (IFNG) polymorphism in Danish and Finnish insulin-dependent diabetes mellitus (IDDM) patients and control subjects. Danish Study Group of Diabetes in Childhood. J Interferon Cytokine Res 17:87, 1997.
47. Siegmund T, Usadel KH, Donner H, Braun J, Walfish PG, Badenhoop K: Interferon-gamma gene microsatellite polymorphisms in patients with Graves' disease. Thyroid 8:1013, 1998.
48. John S, Myerscough A, Marlow A, Hajeer A, Silman A, Ollier W, Worthington J: Linkage of cytokine genes to rheumatoid arthritis. Evidence of genetic heterogeneity. Ann Rheum Dis 57:361, 1998.
49. Vandenbroeck K, Opdenakker G, Goris A, Murru R, Billiau A, Marrosu MG: Interferon-gamma gene polymorphism-associated risk for multiple sclerosis in Sardinia. Ann Neurol 44:841, 1998.
50. Kawasaki ES: Sample preparation from blood, cells, and other fluids. In Innis MA, Gelfand DH, Sninsky JJ, White TJ (eds.): PCR Protocols: A Guide to Methods and Applications. New York: Academic Press, 1990.
51. Collado-Escobar MD, Nieto A, Mataran L, Raya E, Martin J: Interleukin 6 gene promoter polymorphism is not associated with ankylosing spondylitis. J Rheumatol 27:1461, 2000.
52. Mok CC, Lanchbury JS, Chan DW, Lau CS: Interleukin-10 promoter polymorphisms in Southern Chinese patients with systemic lupus erythematosus. Arthritis Rheum 41:1090, 1998.
53. Guo SW, Thompson EA: Performing the exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics 48:361, 1992.
54. Schneider S, Kueffer JM, Roessli D, Excoffier L: Arlequin (version 1.0): A Software Environment for the Analysis of Population Genetics Data. Geneva: Genetics and Biometry Lab, 1996.
55. Dempster AP, Laird NM, Rubin DM: Maximum likelihood for incomplete data via EM algorithm. J R Stat Soc 39:1, 1977.
56. Excoffier L, Slatkin M: Maximum likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 12:921, 1995.
57. Imanishi T, Akaza T, Kimura A, Tokunaga K, Gojobori T: Estimation of allele and haplotype frequencies for HLA and complement loci. In Tsuji K, Aizawa M, Sasazuki T (eds.): HLA 1991. Volume 1. Oxford: Oxford University Press, 1992.
58. Tseng LH, Chen PJ, Lin MT, Shau WY, Chaung SM, Martin PJ, Hansen JA: Single nucleotide polymorphisms in intron 2 of the human interleukin-1 receptor antagonist (IL-1Ra) gene: further definition of the IL-1 beta and IL-1Ra polymorphisms in North American Caucasians and Taiwanese Chinese. Tissue Antigens 57:318, 2001.
59. Kanemoto K, Kawasaki J, Miyamoto T, Obayashi H, Nishimura M: Interleukin (IL)1beta, IL-1alpha, and IL-1 receptor antagonist gene polymorphisms in patients with temporal lobe epilepsy. Ann Neurol 47:571, 2000.
60. Reynard MP, Turner D, Navarrete CV: Allele frequencies of polymorphisms of the tumour necrosis factor-alpha, interleukin-10, interferon-gamma and interleukin-2 genes in a North European Caucasoid group from the UK. Eur J Immunogenet 27:241, 2000.
61. Cox ED, Hoffmann SC, DiMercurio BS, Wesley RA, Harlan DM, Kirk AD, Blair PJ: Cytokine polymorphic analyses indicate ethnic differences in the allelic distribution of interleukin-2 and interleukin-6. Transplantation 72:720, 2001.
62. Hoffmann SC, Stanley EM, Cox ED, DiMercurio BS, Koziol DE, Harlan DM, Kirk AD, Blair PJ: Ethnicity greatly influences cytokine gene polymorphism distribution. Am J Transplant 2:560, 2002.
63. Hayakawa T, Takamura T, Hisada A, Abe T, Nomura G, Kobayashi K: IL-6 gene polymorphism -174G/C does not contribute substantially to hyperlipidaemia and type II diabetes mellitus in Japanese men. Diabetologia 45:453, 2002.
64. Zhai R, Liu G, Yang C, Huang C, Wu C, Christiani DC: The G to C polymorphism at -174 of the interleukin-6 gene is rare in a Southern Chinese population. Pharmacogenetics 11:699, 2001.
65. Scarel-Caminaga RM, Trevilatto PC, Souza AP, Brito RB, Line SR: Frequencies of the -330 (T → G) IL-2 and -590 (T → C) IL-4 gene polymorphisms in a population from southeastern Brazil. Eur J Immunogenet 29:293, 2002.
66. Noguchi E, Shibasaki M, Arinami T, Takeda K, Yokouchi Y, Kawashima T, Yanagi H, Matsui A, Hamaguchi H: Association of asthma and the interleukin-4 promoter gene in Japanese. Clin Exp Allergy 28:449, 1998.
67. Hijazi Z, Haider MZ: Interleukin-4 gene promoter polymorphism [C590T] and asthma in Kuwaiti Arabs. Int Arch Allergy Immunol 122:190, 2000.
68. Walley AJ, Cookson WO: Investigation of an interleukin-4 promoter polymorphism for associations with asthma and atopy. J Med Genet 33:689, 1996.
69. Noguchi E, Shibasaki M, Arinami T, Takeda K, Yokouchi Y, Kobayashi K, Imoto N, Nakahara S, Matsui A, Hamaguchi H: Lack of association of atopy/asthma and the interleukin-4 receptor alpha gene in Japanese. Clin Exp Allergy 29:228, 1999.
70. Hackstein H, Hofmann H, Bohnert A, Bein G: Definition of human interleukin-4 receptor alpha chain haplotypes and allelic association with atopy markers. Hum Immunol 60:1119, 1999.
71. Perrey C, Pravica V, Sinnott PJ, Hutchinson IV: Genotyping for polymorphisms in interferon-gamma, interleukin-10, transforming growth factor-beta 1 and tumour necrosis factor-alpha genes: a technical report. Transpl Immunol 6:193, 1998.
72. Hutchinson IV, Turner DM, Sankaran D, Awad MR, Sinnott PJ: Influence of cytokine genotypes on allograft rejection. Transplant Proc 30:862, 1998.
73. Hutchinson IV, Turner D, Sankaran D, Awad M, Pravica V, Sinnott P: Cytokine genotypes in allograft rejection: guidelines for immunosuppression. Transplant Proc 30:3991, 1998.
74. Hutchinson IV, Pravica V, Hajeer A, Sinnott PJ: Identification of high and low responders to allografts. Rev Immunogenet 1:323, 1999.
75. Fernandez-Real JM, Broch M, Vendrell J, Gutierrez C, Casamitjana R, Pugeat M, Richart C, Ricart W: Interleukin-6 gene polymorphism and insulin sensitivity. Diabetes 49:517, 2000.
76. Jones KG, Brull DJ, Brown LC, Sian M, Greenhalgh RM, Humphries SE, Powell JT: Interleukin-6 (IL-6) and the prognosis of abdominal aortic aneurysms. Circulation 103:2260, 2001.
77. Opelz G, Wujciak T, Schwarz V, Back D, Mytilineos J, Scherer S: Collaborative transplant study analysis of graft survival in blacks. Transplant Proc 25:2443, 1993.
78. Zhou YC, Cecka JM, Terasaki PI: Effect of race on kidney transplants. Clin Transpl 4:447, 1990.