Genetic Polymorphisms Influencing Therapy and Susceptibility to Rejection in Organ Allograft Recipients
Tóm tắt
Solid organ transplantation during the past 30 years has developed from an experimental procedure into routine clinical practice. The current repertoire of immunosuppressive agents has made a major contribution to transplant survival; however, problems in different areas still need to be overcome. Several gene polymorphisms are supposed to influence immunosuppressive therapy and susceptibility to rejection. Therefore, a priority of transplant biologists is to estimate individual patient risk and to characterise the genetic profile of patients in need of a transplant in order to optimise the use of a scarce resource such as organs from cadaver donors, and to avoid serious drug-induced adverse effects. Polymorphisms in genes encoding tumour necrosis factor-α (TNFα), interleukin (IL)-6, IL-10, interferon-γ (IFNγ), transforming growth factor-β (TGFβ) and thiopurine S-methyltransferase (TPMT) can have significant effects on an individual’s risk of rejection, as well as their ability to tolerate immunosuppressive therapy. Genotyping of known polymorphisms in these genes may in the future contribute to our ability to individualise immunosuppressive therapy in organ transplant recipients.
Tài liệu tham khảo
Cecka JM. The Unos Scientific Renal Transplant Registry: ten years of kidney transplants. In: Cecka JM, Terasaki PI, editors. Clinical Transplant 1997. Los Angeles (CA): UCLA Tissue Typing Laboratory, 1997: 1–14
Elion GB, Burgi E, Hitchings GH. Studies on condensed pyrimidine systems. IX. Synthesis of some 6-substituted purines. J Am Chem Soc 1952; 74: 411–4
Murray JE, Merril JP, Harrison JH, et al. Prolonged survival of human kidney homo-grafts by immunosuppressive drug therapy. N Engl J Med 1963; 268: 1315–23
Bach JF. The mode of action of immunosuppressive agents. Front Biol 1975; 41: 1–374
Stepkowski SM. Molecular targets for existing and novel immunosuppressive drugs [online]. Available from: URL: http://www-ermm.cbcu.cam.ac.uk/oool769h.htp [Accessed 2002 Dec 18]
Hayry P. Chronic allograft vasculopathy: new strategies for drug development. Transplant Proc 1998; 30: 3989–90
Basadonna GP, Matas AJ, Gillingham KJ, et al. Early versus late acute renal allograft rejection: impact on chronic rejection. Transplantation 1993; 55: 993–5
Azuma H, Tilney NL. Chronic graft rejection. Curr Opin Immunol 1994; 6: 770–6
Hunt S, Billingham M. Long-term results of cardiac transplantation. Annu Rev Med 1991; 42: 437–47
Rose ML. Antibody-mediated rejection following cardiac transplantation. Transplant Rev 1993; 7: 140–52
Orosz CG, Pelletier RP. Chronic remodelling pathology in grafts. Curr Opin Immunol 1997; 9: 676–80
Fishman JA, Rubin RH. Infection in organ-transplant recipients. N Engl J Med 1998; 338:1741–51
Keck BM, Bennet LE, Rosendale J, et al. World-wide thoracic organ transplantation: a report from UNOS/ISHLT international registry for thoracic organ transplantation. In: Cecka JM, Terasaki PI, editors. Clinical Transplants 1999. Los Angeles (CA): UCLA Tissue Typing Laboratory, 1999: 35–49
Sheil AGR. Cancer Report. Australia and New Zealand Dialysis and Transplant Registry. In: Disney APS, editor. ANZDATA Report 1991. Adelaide (VIC): The Queen Elizabeth Hospital: 100–10
Sheil AG. Cancer in immune-suppressed organ transplant recipients: aetiology and evolution. Transplant Proc 1998; 30: 2055–7
Wilson AG, di Giovine FS, Blakemore AI, et al. Single base polymorphism in the human tumor necrosis factor alpha (TNF alpha) gene detectable by Ncol restriction of PCR product. Hum Mol Genet 1992; 1: 353
Awad MR, Webber S, Boyle G, et al. The effect of cytokine gene polymorphisms on paediatric heart allograft outcome. J Heart Lung Transplant 2001; 20: 625–30
Turner DM, Williams DM, Sankaran D, et al. Investigation of the polymorphism in the interleukin-10 gene promoter. Eur J Immunogenet 1997; 24: 1–8
Pravica V, Asderakis A, Perrey C, et al. In vitro production of IFN-gamma correlates with CA repeat polymorphism in the human IFN-gamma gene. Eur J Immunogenet 1999; 26: 1–3
Fishman D, Faulds G, Jeffery R, et al. The effect of novel polymorphism 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 1998; 102: 1369–76
Hutchinson IV, Pravica V, Sinnot PJ. Genetic regulation of cytokine synthesis: consequences on acute and chronic organ allograft rejection. Graft 1998; 1:15–21
Hutchinson IV, Pravica V, Perrey C, et al. Cytokine gene polymorphisms and relevance to forms of rejection. Transplant Proc 1999; 31: 734–6
Sankaran D, Asderakis A, Ashraf S, et al. Cytokine gene polymorphisms predict acute graft rejection following renal transplantation. Kidney Int 1999; 56: 281–8
Abdallah AN, Cucchi-Mouillot P, Biteau N, et al. Analysis of the polymorphism of the tumor necrosis factor (TNF) gene and promoter and of circulating TNF-alpha levels in heart-transplant patients suffering or not suffering from severe rejection. Eur J Immunogenet 1999; 26: 249–55
Teramoto K, Tanaka Y, Kusano F, et al. Expression of tumor necrosis factor-alpha gene during allograft rejection following rat liver transplantation. Liver 1999; 19: 19–24
Talmadge JE, Phillips H, Schneider M, et al. Immunomodulatory properties of recombinant murine and human tumor necrosis factor. Cancer Res 1998; 48: 544–50
Beutler B, Cerami A. The biology of cachectin/TNF: a primary mediator of the host response. Annu Rev Immunol 1989; 7: 625–55
Goldfeld AE, Doyle C, Maniatis T. Human tumor necrosis factor alpha gene regulation by virus and lipopolysaccharide. Proc Natl Acad Sci USA 1990; 87: 9769–73
Goldfeld AE, Strominger JL, Doyle C. Human tumor necrosis factor alpha gene regulation in phorbol ester stimulated T and B cell lines. J Exp Med 1991; 174: 73–81
Economou JS, Rhoades K, Essner R, et al. Genetic analysis of the human tumor necrosis factor alpha/cachectin promoter region in a macrophage cell line. J Exp Med 1989; 170: 321–6
Sung SJ, Walters JA, Hudson J, et al. Tumor necrosis factor-alpha m-RNA accumulation in human myelomonocytic cell lines. Role of transcriptional regulation by DNA sequence motifs and mRNA. J Immunol 1991; 147: 2047–54
Han J, Huez G, Beutler B. Interactive effects of the tumor necrosis factor promoter and 3′-untranslated regions. J Immunol 1991; 146: 1843–8
Spies T, Blanck G, Bresnahan M, et al. Anew cluster of genes within the human major histocompatibility complex. Science 1989; 243: 214–7
Drouet C, Shakhov AN, Jongeneel CV. Enhancers and transcription factors controlling the inducibility of the tumor necrosis factor-alpha promoter in primary macrophages. J Immunol 1991; 147: 1694–700
Braun N, Michel U, Ernst BP, et al. Gene polymorphism at position -308 of the tumor-necrosis-factor-alpha (TNF-alpha) in multiple sclerosis and it’s influence on the regulation of TNF-alpha production. Neurosci Lett 1996; 215: 75–8
Kroeger KM, Carville KS, Abraham LJ. The -308 tumor necrosis factor-alpha promoter polymorphism effects transcription. Mol Immunol 1997; 34: 391–9
Wilson AG, Symons JA, McDowell TL, et al. Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation. Proc Natl Acad Sci USA 1997; 94: 3195–9
Wilson AG, Gordon C, di Giovine FS, et al. A genetic association between systemic lupus erythematosus and tumor necrosis factor alpha. Eur J Immunol 1994; 24: 191–5
Verweij CL, Huizinga TW. Tumor necrosis factor alpha gene polymorphisms and rheumatic diseases. Br J Rheumatol 1998; 37: 923–6
Wilson AG. Genetics of tumor necrosis factor (TNF) in autoimmune liver diseases: red hot or red herring? J Hepatol 1999; 30: 331–3
McGuire W, Hill AV, Allsopp CE, et al. Variation in the TNF alpha promoter region associated with susceptibility to cerebral malaria. Nature 1994; 371: 508–11
Cabrera M, Shaw MA, Sharpies C, et al. Polymorphism in tumor necrosis factor genes associated with mucocutaneous leishmaniasis. J Exp Med 1995; 182: 1259–64
Kishimoto T, Akira S, Taga T. Interleukin-6 and its receptor: a paradigm for cytokines. Science 1992; 258: 593–7
Kopf M, Baumann H, Freer G, et al. Impaired immune and acute-phase responses in interleukin-6-deficient mice. Nature 1994; 368: 339–42
Rincon M, Anguita J, Nakamura T, et al. Interleukin IL-6 directs the differentiation of IL-4 producing CD4+ T cells. J Exp Med 1997; 185: 461–9
La Flamme AC, Pearce EJ. The absence of IL-6 does not affect Th2 cell development in vivo, but does lead to impaired proliferation, IL-2 receptor expression, and B cell responses. J Immunol 1999; 162: 5829–37
Xing Z, Gauldie J, Cox G, et al. IL-6 is an antiinflammatory cytokine required for controlling local or systemic acute inflammatory response. J Clin Invest 1998; 101: 311–20
Raasveld MH, Bloemena E, Wilmink JM, et al. Interleukin-6 and neopterin in renal transplant recipients, a longitudinal study. Transpl Int 1993; 6: 89–94
Waiser J, Budde K, Katalinic A, et al. Interleukin-6 expression after renal transplantation. Nephrol Dial Transplant 1997; 12: 753–9
McLean AG, Hughes D, Welsh KI, et al. Patterns of graft infiltration and cytokine gene expression during the first 10 days of kidney transplantation. Transplantation 1997; 63: 374–80
Newstead CG, Lamb WR, Brenchley PE, et al. Serum and urine IL-6 and TNF-alpha in renal transplant recipients with graft dysfunction. Transplantation 1993; 56: 831–5
Marshall SE, McLaren AJ, McKinney EF, et al. Donor cytokine genotype influences the development of acute rejection after renal transplantation. Transplantation 2001; 71: 469–76
Chang CH, Furue M, Tamaki K. B7-1 expression of Langerhans cells is up-regulated by proinflammatory cytokines, and is down-regulated by interferon-gamma or by interleukin-10. Eur J Immunol 1995; 25: 394–8
Kim JM, Brannan CI, Copeland NG, et al. Structure of the mouse IL-10 gene and chromosomal localisation of the mouse and human genes. J Immunol 1992; 148: 3618–23
Kube D, Platzer C, von Knethen A, et al. Isolation of the human interleukin 10 promoter. Characterisation of the promoter activity in Burkitt’s lymphoma cell lines. Cytokine 1995; 7: 1–7
Lowry RP, Konieczny B, Alexander D, et al. Interleukin-10 eliminates anti-CD3 monoclonal antibody-induced mortality and prolongs heart allograft survival in inbred mice. Transplant Proc 1995; 27: 392–4
Bathgate AJ, Pravica V, Perrey C, et al. The effect of polymorphisms in tumor necrosis factor-α, interleukin-10, and transforming growth factor β1 genes in acute hepatic allograft rejection. Transplantation 2000; 69: 1514–7
Asderakis A, Sankaran D, Dyer P, et al. Association of polymorphisms in the human interferon-ψ and interleukin-10 gene with acute and chronic kidney transplant outcome. Transplantation 2001; 71: 674–8
Turner DM, Grant SCD, Yonan N, et al. Cytokine gene polymorphism and heart transplant rejection. Transplantation 1997; 64: 776–9
Boehm U, Klamp T, Groot M, et al. Cellular responses to interferon-gamma. Annu Rev Immunol 1997; 15: 749–95
Perrey C, Pravica V, Sinnot PJ, et al. Genotyping for polymorphism in interferon-gamma, interleukin-10, transforming growth factor-beta 1 and tumour necrosis factor alpha genes: a technical report. Transpl Immunol 1998; 6: 193–7
Awad MR, El Gamel A, Hasleton P, et al. Genotypic variation in the transforming growth factor-beta 1 gene: association with TGF-β1 production fibrotic lung disease and graft fibrosis after lung transplantation. Transplantation 1998; 60: 1014–20
Weinshilboum RM, Sladek SL. Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte methyltransferase activity. Am J Hum Genet 1980; 32: 651–62
McLeod H, Lin JS, Scott EP, et al. Thiopurine methyltransferase activity in American white subjects and black subjects. Clin Pharmacol Ther 1994; 55: 15–20
Lennard L, van Loon JA, Weinshilboum RM. Pharmacogenetics of acute azathioprine toxicity: relationship to thiopurine methyltransferase genetic polymorphism. Clin Pharmacol Ther 1989; 46: 149–54
Evans WE, Horner MH, Chu YQ, et al. Altered mercaptopurine metabolism, toxic effects, and dosage requirement thiopurine methyltransferase-deficient child with acute lymphocytic leukaemia. J Pediatr 1991; 119: 985–9
Lennard L, Gibson BE, Nicole T, et al. Congenital thiopurine methyltransferase deficiency and 6-mercaptopurine during treatment for acute lymphoblastic leukaemia. Arch Dis Child 1993; 69: 577–9
Schutz E, Gummert J, Mohr F, et al. Azathioprine-induced myelosuppression in thiopurine methyltransferase deficient heart transplant recipient [letter]. Lancet 1993; 341: 436
McLeod HL, Miller DR, Evans WE. Azathioprine-induced myelosuppression in thiopurine methyltransferase deficient heart transplant recipient [letter]. Lancet 1993; 1341: 1151
Chocair PR, Duley JA, Simmonds HA, et al. The importance of thiopurine methyltransferase activity for the use of azathioprine in transplant recipients. Transplantation 1992; 53(5): 1051–6
Morris PJ. Transplantation. In: Delves PJ, Roitt IM, editors. Encyclopaedia of Immunology 1997. London: Academic Press, 1998; 4: 2411–5
Risch NJ. Searching for genetic determinants in the new millennium. Nature 2000; 405: 847–56