Cytokine polymorphism and its possible impact on cancer

Immunologic Research

Volumn 30, Issue 2, 2004, Pages 181-190

  Jin, Ping ^a   Panelli, Monica C ^a   Marincola, Francesco M ^a   Wang, Ena ^a,b  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b CLINICAL CENTER   (United States)

Author keywords

Cytokine; Cytokine polymorphism; Immune responses

Indexed keywords

CYTOKINE; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERLEUKIN 1 RECEPTOR; INTERLEUKIN 10; INTERLEUKIN 2 RECEPTOR; TOLL LIKE RECEPTOR 1; TUMOR NECROSIS FACTOR;

ASTHMA; CANCER IMMUNOLOGY; CANCER RISK; CHRONIC HEPATITIS; CROHN DISEASE; CYTOKINE PRODUCTION; HAPLOTYPE; HEPATITIS C; HUMAN; IMMUNOREGULATION; NONHUMAN; PARKINSON DISEASE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN POLYMORPHISM; REVIEW; RHEUMATOID ARTHRITIS; SIGNAL TRANSDUCTION;

3' UNTRANSLATED REGIONS; CYTOKINES; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; INTRONS; NEOPLASMS; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); RECEPTORS, CYTOKINE;

EID: 7044247715     PISSN: 0257277X     EISSN: None     Source Type: Journal    
DOI: 10.1385/IR:30:2:181     Document Type: Review

References (89)

1. van der Bruggen P, Traversari C, Chomez P, Lurquin C, De Plaen E, Van den Eynde B, et al.: A gene encoding an antigen recognized by cytolytic T lymphocytes on a human melanoma. Science 1991;254:1643-1647.
2. Parmiani G, Colombo MP: Somatic gene therapy of human melanoma: Preclinical studies and early clinical trials. Melanoma Res 1995;5:295-301.
3. Parmiani G, Castelli C, Dalerba P, Mortarini R, Rivoltini L, Marincola FM, et al.: Cancer immunotherapy with peptide-based vaccines: what have we achieved? Where are we going? J Natl Cancer Inst 2002;94:805-818.
4. Marincola FM, Wang E, Herlyn M, Seliger B, Ferrone S: Tumors as elusive targets of T cell-directed immunotherapy. Trends Immunol 2003;24:334-341.
5. Wang E, Panelli MC, Marincola FM: Genomic analysis of cancer. Princ Pract Oncol 2003;17(9):1-16.
6. Wang E, Miller LD, Ohnmacht GA, Mocellin S, Petersen D, Zhao Y, et al.: Prospective molecular profiling of subcutaneous melanoma metastases suggests classifiers of immune responsiveness. Cancer Res 2002;62:3581-3586.
7. Monsurro' V, Wang E, Panelli MC, Nagorsen D, Jin P, Smith K, et al.: Active-specific immunization against cancer: is the problem at the receiving end? Sem Cancer Biol 2003;13:473-480.
8. Abrams JS, Rayner AA, Wiernik PH, Parkinson DR, Eisenberger M, Aronson FR, et al.: High-dose recombinant interleukin-2 alone: a regimen with limited activity in the treatment of advanced renal cell carcinoma. J Natl Cancer Inst 1990;82:1202-1206.
9. Atkins MB, Lotze MT, Dutcher JP, Fisher RI, Weiss G, Margolin K, et al.: High-dose recombinant interleukin-2 therapy for patients with metastatic melanoma: analysis of 270 patients treated between 1985 and 1993. J Clin Oncol 1998;17:2105-2116.
10. Panelli MC, Wang E, Phan G, Puhlman M, Miller L, Ohnmacht GA, et al.: Genetic profiling of peripharal mononuclear cells and melanoma metastases in response to systemic interleukin-2 administration. Genome Biol 2002;3:RESEARCH0035.
11. Panelli MC, Martin B, Nagorsen D, Wang E, Smith K, Monsurro' V, et al.: A genomic and proteomic-based hypothesis on the eclectic effects of systemic interleukin-2 admnistration in the context of melanoma-specific immunization. J Transl Med 2004; in press.
12. Panelli MC, Marincola FM: Immunotherapy update: from interleukin-2 to antigen-specific therapy, in American Society of Clincical Oncology Educational Book. American Society of Clinical Oncology, Alexandria, VA, 1998, pp. 467-473.
13. Lotze M, Matory YL, Rayner AA, Ettinghausen SE, Vetto JT, Seipp CA, et al.: Clinical effects and toxicity of interleukin-2 in patients with cancer. Cancer 1986;58:2764-2772.
14. White RLJ, Schwartzentruber D, Guleria AS, McFarlane MP, White DE, Ucker E, et al.: Cardiopulmonary toxicity of treatment with high-dose interleukin-2 in 199 consecutive patients with metastatic melanoma or renal cell carcinoma. Cancer 1994;74:3212-3222.
15. Phan GQ, Attia P, Steinberg SM, White DE, Rosenberg SA: Factors associated with response to high-dose interleukin-2 in patients with metastatic melanoma. J Clin Oncol 2001;19:3477-3482.
16. Jin P, Wang E: Polymorphism in clinical immunology. From HLA typing to immunogenetic profiling. J Transl Med 2003;1:8.
17. Marincola FM, Jaffe EM, Hicklin DJ, Ferrone S: Escape of human solid tumors from T cell recognition: molecular mechanisms and functional significance. Adv Immunol 2000;74:181-273.
18. Dunn GP, Bruce AT, Ikeda H, Old LJ, Schreiber RD: Cancer immunoediting: from immunosurveillance to tumor escape. Nature Immunol 2002;3:991-998.
19. Khong HT, Restifo NP: Natural selection of tumor variants in the generation of "tumor escape" phenotypes. Nature Immunol 2002;3:999-1005.
20. Kim CJ, Parkinson DR, Marincola FM: Immunodominance across the HLA polymorphism: implications for cancer immunotherapy. J Immunother 1997;21:1-16.
21. Marincola FM, Shamamian P, Rivoltini L, Salgaller ML, Reid J, Restifo NP, et al.: HLA associations in the antitumor response against malignant melanoma. J Immunother 1996;18:242-252.
22. Wang DG, Fan J-B, Siao C-J, Berno A, Young P, Sapolsky R, et al.: Large-scale identification, mapping and genotyping of single-nucleotide polymorphisms in the human genome. Science 1998;280:1077-1082.
23. The International SNP Map Working Group. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 2001;409:928-933.
24. Cooper DN, Ball EV, Krawczak M: The human gene mutation database. Nucleic Acids Res 1998;26:285-287.
25. Ng PC, Henikoff S: Accounting for human polymorphisms predicted to affect protein function. Genome Res 2002;12:436-446.
26. Collins FS, Brooks LD, Chakravarti A: A DNA polymorphism discovery resource for research on human genetic variation. Genome Res 1998;8:1229-1231.
27. Schafer AL, Hawkins JR: DNA variation and the future of human genetics. Nature Biotech 1998;16:33-39.
28. Howell WM, Calder PC, Grimble RF: Gene polymorphisms, inflammatory diseases and cancer. Proc Nutr Soc 2002;61:447-456.
29. Haukim N, Bidwell JL, Smith AJP, Keen LJ, Gallagher G, Kimberly R, et al.: Cytokine gene polymorphism in human disease: on-line databases, Supplement 2. Genes Immun 2002;3:313-330.
30. van Sorge NM, van der Pol W-L, van de Winkel JGJ: FCgR polymorphisms: implications for function, disease susceptibility and immunotherapy. 2003;61:202.
31. Parham P: Immunogenetics of killer-cell immunoglobulin-like receptors. Tissue Antigens 2003;62:194-200.
32. Patil N, Berno AJ, Hinds DA, Barrett WA, Doshi JM, Hacker CR, et al.: Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 2001;294:1719-1723.
33. Keen LJ: The extent and analysis of cytokine and cytokine receptor gene polymorphism. Transpl Immunol 2002;10:143-146.
34. Turner D, Choudhury F, Reynard M, Railton D, Navarrete C: Typing of multiple single nucleotide polymorphisms in cytokine and receptor genes using SNaPshot. Hum Immunol 2002;63:508-513.
35. McCarron SL, Edwards S, Evans PR, Gibbs R, Dearnaley DP, Dowe A, et al.: Influence of cytokine gene polymorphism on the development of prostate cancer. Cancer Res 2002;62:3369-3372.
36. Howell WM, Turner SJ, Bateman AC, Theaker JM: IL-10 promoter polymorphisms influence tumour development in cutaneous malignant melanoma. Genes Immun 2001;2:25-31.
37. Howell WM, Bateman AC, Turner SJ, Collins A, Theaker JM: Influence of vascular endothelial growth factor single nucleotide polymorphisms on tumour development in cutaneous malignant melanoma. Genes Immun 2002;3:229-232.
38. Bidwell J, Keen L, Gallagher G, Kimberly R, Huizinga T, McDermott MF, et al.: Cytokine gene polymorphism in human disease: on-line databases. Genes Immun 1999;1:3-19.
39. Bidwell J, Keen L, Gallagher G, Kimberly R, Huizinga T, McDermott MF, et al.: Cytokine gene polymorphism in human disease: on-line databases, supplement 1. Genes Immun 2001;2:61-70.
40. Lederer JA, Liou JS, Todd MD, Glimcher LH, Lichtman AH: Regulation of cytokine gene expression in T helper subsets. J Immunol 1994;152:77-86.
41. HayGlass KT, Wang M, Gieni RS, Ellison C, Gartner J: In vivo direction of CD4 T cells to Th1 and Th2-like patterns of cytokine synthesis. Adv Exp Med Biol 1996;409:309-316.
42. Bidwell JP, Alvarez M, Feister H, Onyia J, Hock J: Nuclear matrix proteins and osteoblast gene expression. J Bone Miner Res 1998;13:155-167.
43. Knight JC, Udalova I, Hill AV, Greenwood BM, Peshu N, Marsh K et al.: A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with several malaria. Nat Genet 1999;22:145-150.
44. Brinkmann BM, Huizinga TW, Kurban SS, van der Velde EA, Schreuder GM, Hazes JM, et al.: Tumor necrosis factor alpha gene polymorphism in rheumatoid arthritis: association with susceptibility to, or severity of, disease? Br J Rheumatol 1997;36:516-521.
45. Lazarus M, Hajeer AH, Turner D, Sinnott P, Worthington J, Ollier WE, et al.: Genetic variation in the interleukin 10 gene promoter an systemic lupus erythematosus. J Rheumatol 1997;24:2314-2317.
46. Aksentijevich I, Galon J, Scares M, Mansfield E, Hull K, Oh HH, et al.: The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet 2001;69:301-314.
47. Leonard WJ: Cytokines and immunodeficiency diseases. Nat Rev Immunol 2001;1:200-208.
48. Gilmour KC, Fujii H, Cranston T, Davies EG, Kinnon C, Gaspar HB: Defective expression of the interleukin-2/interleukin-15 receptor beta subunit leads to a natural killer cell-deficient form of severe combined immunod-eficiency. Blood 2001;98:877-879.
49. Du Y, Dodel RC, Eastwood BJ, Bales KR, Gao F, Lohmuller F, et al.: Association of an interleukin 1 alpha polymorphism with Alzheimer's disease. Neurology 2000;55:480-483.
50. Grimaldi LM, Casadei VM, Ferri C, Veglia F, Licastro F, Annoni G, et al.: Association of early-onset ALzhaeimer's disease with an interleukin-1alpha gene polymorphism. Ann Neurol 2000;47:361-365.
51. Nishimura M, Mizuta I, Mizuta E, Yamasaki S, Ohta M, Kaji R, et al: Tumor necrosis factor gene polymorphisms in patients with sporadic Parkinson's disease. Neurosci Lett 2001;311:1-4.
52. Kawasaki A, Tsuchiya N, Hagiwara K, Takazoe M, Tokunaga K: Independent contribution of HLA-DRB1 and TNF alpha promoter polymorphisms to the susceptibility to Crohn's disease. Genes Immun 2000;1:351-357.
53. Moffatt MF, Cookson WO: Tumour necrosis factor haplotypes and asthma. Hum Mol Genet 1997;6:551-554.
54. Hohler T, Kruger A, Gerken G, Schneider PM, Meyer zum Buschenefelde KH, Rittner C: A tumor necrosis factor-alpha (TNF-alpha) promoter polymorphism is associated with chronic hepatitis B infection. Clin Exp Immunol 1998;111:579-582.
55. Lim S, Crawley E, Woo P, Barnes PJ: Haplotype diversity with low interleukin-10 production in patients with severe asthma. Lancet 1998;352:133.
56. Hajeer AH, Lazarus M, Turner D, Mageed RA, Vencovsky J, Sinnott P, et al.: IL-10 gene promoter polymorphisms in rheumatoid arthritis. Scand J Rheumatol 1998;27:142-145.
57. O'Neill LA, Fitzgerald KA, Bowie AG: The Toll-IL-1 receptor adaptor family grows to five members. Trends Immunol 2003;24:286-290.
58. O'Neill LA, Brown Z, Ward SG: Toll-like receptors in the spotlight. Nat Immunol 2003;4:299.
59. Beutler B: Tlr4: central component of the sole mammalian LPS sensor. Curr Opin Immunol 2000;12:20-26.
60. Anderson KV: Toll signaling pathways in the innate immune response. Curr Opin Immunol 2000;12:13-19.
61. Takeda K, Kaisho T, Akira S: Toll-like receptors. Annu Rev Immunol 2003;21:335-376.
62. Arbour NC, Lorenz E, Schutte BC, Zabner J, Kline JN, Frees K, et al.: TLR4 mutations are associated with endotoxin hyporesponsiveness in humans. Nat Genet 2000;25:187-191.
63. Lorenz E, Mira JP, Cornish KL, Arbour NC, Schwartz DA: A novel polymorphism in the toll-like receptor 2 gene and its potential association with staphylococcal infection. Infect Immun 2000;68:6398-6401.
64. Lorenz E, Jones M, Wohlford-Lenane C, Meyer N, Frees KL, Arbour NC, et al.: Genes other than TLR4 are involved in the response to inhaled LPS. Am J Physiol Lung Cell Mol Physiol 2001;281:L1106-1114.
65. Ellery JM, Nicholls PJ: Alternate signalling pathways from the interleukin-2 receptor. Cytokine Growth Factor Rev 2002;13:27-40.
66. Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, et al.: Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 1993;73:147-157.
67. Hatada EN, Krappmann D, Scheidereit C: NF-κB and the innate immune response. Curr Opin Immunol 2000;12:52-58.
68. Blackwell TS, Christman JW: The role of nuclear factor-kappa B in cytokine gene regulation. Am J Respir Cell Mol Biol 1997;17:3-9.
69. Hanada T, Yoshimura A: Regulation of cytokine signaling and inflammation. Cytokine Growth Factor Rev 2002;13:413-421.
70. Abraham E: Nuclear factor-kappa B and its role in sepsis-associated organ failure. J Infect Dis 2003;187:S364-S369.
71. Udalova IA, Richardson A, Denys A, Smith C, Ackerman H, Foxwell B, et al.: Functional consequences of a polymorphism affecting NF-κB p50-p50 binding to the TNF promoter region. Mol Cell Biol 2000;20:9113-9119.
72. Curran JE, Weinstein SR, Griffith LR: Polymorphic variants of NF-κB and its inhibitory protein NF-κBIA and their involvement in sporadic breast cancer. Cancer Lett. 2002;188:103-107.
73. Giordani L, Bruzzi P, Lasalandra C, Quaranta M, Schittulli F, Delia Ragione F, et al.: Association of breast cancer and polymorphisms of interleukin-10 and tumor necrosis factor-alpha genes. Clin Chem 2003;49:1664-1667.
74. Savage SA, Abnet CC, Mark SD, Qiao YL, Dong ZW, Dawsey SM, et al.: Genetic variants of the interleukin 8 and interleukin-8 receptor B genes and risk for gastric and esophageal cancer in high-risk Chinese population. J Natl Cancer Inst 2004; in press.
75. Mocellin S, Panelli MC, Wang E, Nagorsen D, Marincola FM: The dual role of IL-10. Trends Immunol 2002;24:36-43.
76. Stevens PW, Hall JG, Lyamichev V, Neri BP, Lu M, Wang L, et al.: Analysis of single nucleotide polymorphisms with solid phase invasive cleavage reactions. Nucleic Acids Res 2001;29:e77.
77. Wang L, Marincola FM: Applying pyrosequencing to HLA-typing. ASHI Quarterly 2003;27:16-18.
78. Kwok P-Y: Genetic association by whole-genome analysis. Science 2001;294:2669-2670.
79. Chee M, Yang R, Hubbell E, Berno A, Xiaohua C, Stern D, et al.: Accessing genetic information with high-density DNA arrays. Science 1996;274:610-614.
80. Hacia JG, Brody LC, Chee MS, Fodor SP, Collins FS: Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis [see comments]. Nat Genet. 1996;14:441-447.
81. Saiki RK, Walsh PS, Levenson CH, Erlich HA: Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc Natl Acad Sci USA 1989;86:6230-6234.
82. Lockhart DJ, Dong H, Byrne MC, Folliette MT, Gallo MV, Chee MS, et al.: Expression monitoring of hybridization to high-density oligonucleotide arrays. Nature Biotechnol 1996;14:1675-1680.
83. Chen J, Iannone MA, Li MS, Taylor JD, Rivers P, Nelsen AJ, et al.: A microsphere-based assay for multiplex single nucleotide polymorphism analysis using single base chain extension. Genome Res 2000;10:549-557.
84. Tong AK, Ju J: Single nucleotide polymorphism detection by combinatorial fluorescence energy transfer tags and biotinylated dideoxynucleotides. Nucleic Acids Res 2002;30:e19.
85. Kwok P-Y: High-throughput genotyping assay approaches. Pharmacogenomics 2000;1:95-100.
86. Quo Z, Gatterman MS, Hood L, Hansen JA, Petersdorf EW: Oligonucleotide arrays for high-throughput SNPs detection in the MHC class I genes: HLA-B as a model system. Genome Res 2002;12:447-457.
87. Hacia JG: Resequencing and mutational analysis using oligonucleotide microarrays. Nature Genet 1999;21:42-47.
88. Hacia JG, Sun B, Hunt N, Edgemon K, Mosbrook D, Robbins C, et al.: Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. Genome Res, 1998;8:1245-1258.
89. Wang E, Adams S, Zhao Y, Panelli MC, Simon R, Klein H, et al.: A strategy for detection of known and unknown SNP using a minimum number of oligonucleotides. J Transl Med 2003;1:4.