Impact of immunogenetic polymorphisms in bone marrow failure syndromes

Mini-Reviews in Medicinal Chemistry

Volumn 11, Issue 6, 2011, Pages 544-552

  Serio, B ^a   Selleri, C ^a   Maciejewski, J P ^b  

^a UNIVERSITY OF SALERNO   (Italy)

^b TAUSSIG CANCER INSTITUTE   (United States)

Author keywords

Aplastic anemia; Cytokine polymorphisms; KIR KIR L; Myelodysplastic syndromes

Indexed keywords

GAMMA INTERFERON; INTERLEUKIN 1 RECEPTOR; INTERLEUKIN 10; INTERLEUKIN 12; INTERLEUKIN 1ALPHA; INTERLEUKIN 1BETA; INTERLEUKIN 2; INTERLEUKIN 4; INTERLEUKIN 4 RECEPTOR ALPHA; INTERLEUKIN 6; KILLER CELL IMMUNOGLOBULIN LIKE RECEPTOR; LEUKOCYTE ANTIGEN; TRANSFORMING GROWTH FACTOR BETA; TUMOR NECROSIS FACTOR ALPHA;

ADOLESCENT; ADULT; AGED; APLASTIC ANEMIA; ARTICLE; CHILD; CODON; CONTROLLED STUDY; CYTOKINE PRODUCTION; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE; HUMAN; IMMUNOGENICITY; MAJOR CLINICAL STUDY; MYELODYSPLASTIC SYNDROME; PAROXYSMAL NOCTURNAL HEMOGLOBINURIA; PRESCHOOL CHILD; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; ANEMIA, APLASTIC; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CYTOKINES; GENE FREQUENCY; GENOTYPE; HEMOGLOBINURIA, PAROXYSMAL; HUMANS; INTERFERON-GAMMA; INTERLEUKIN-10; MIDDLE AGED; MYELODYSPLASTIC SYNDROMES; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, CYTOKINE; RECEPTORS, KIR; TRANSFORMING GROWTH FACTOR BETA;

EID: 79959485233     PISSN: 13895575     EISSN: 18755607     Source Type: Journal    
DOI: 10.2174/138955711795843356     Document Type: Article

References (75)

1. Young, N.S.; Maciejewski, J.P. In: Aplastic Anemia; Hoffman, Benz, Shattil, Furie, Cohen, Silberstein, McGlave, Eds.; Churchill Livingstone: Philadelphia, 2000, pp. 297-330.
2. Young, N.S.; Maciejewski, J. The pthophysiology of acquired aplastic anemia. N. Engl. J. Med., 2007, 336, 1365-1372.
3. Maciejewski, J.P.; Selleri, C.; Sato T.; Anderson, S.; Young, N.S. A severe and consistent deficit in marrow and circulating primitive hematopoietic cells (long-term culture-initiating cells) in acquired aplastic anemia. Blood, 1996, 88, 1983-1991.
4. Maciejewski, J.P.; Kim, S.; Sloand, E.; Selleri, C.; Young, N.S. Sustained long-term hematologic recovery despite a marked quantitative defect in the stem cell compartment of patients with aplastic anemia after immunosuppressive therapy. Am. J. Hematol., 2000, 65, 123-131.
5. Zeng, W.; Chen, G.; Kajigaya, S.; Nunez, O.; Charrow, A.; Billings, E.M.; Young, N.S. Gene expression profiling in CD34 cells to identify differences between aplastic anemia patients and healthy volunteers. Blood, 2004, 103, 325-332.
6. Zoumbos, N.; Gascon, P.; Trost, S.; Djeu, J.; Young, N. Circulating activated suppressor T lymphocytes in aplastic anemia. N. Engl. J. Med., 1985, 312, 257-265.
7. Kook, H.; Risitano, A.M.; Zeng, W.; Wlodarski, M.; Lottemann, C.; Nakamura, R.; Barrett, J.; Young, N.S.; Maciejewski, J.P. Changes in T-cell receptor V-repertoire in aplastic anemia: effects of different immunosuppressive regimens. Blood, 2002, 99, 3668-3675.
8. Risitano, A.M.; Kook, H.; Zeng, W.; Chen, G.; Young, N.S.; Maciejewski, J.P. Oligoclonal and polyclonal CD4 and CD8 lymphocytes in aplastic anemia and paroxysmal nocturnal hemoglobinuria measured by Vβ CDR3 spectratyping and flow cytometry. Blood, 2002, 100, 178-183.
9. Risitano, A.M.; Maciejewski, J.P.; Green, S.; Plasilova, M.; Zeng, W.; Young, N.S. In vivo dominant immune responses in aplastic anemia patients: molecular tracking of putatively pathogenic T cells by TCRβ-CDR3 sequencing. Lancet, 2004, 364, 353-363.
10. + cells of patients with aplastic anaemia. Br. J. Haematol., 1995, 91, 245-252.
11. + cells. Br. J. Haematol., 1997, 97, 356-365.
12. + human marrow cells is induced by interferon gamma and tumor necrosis factor alpha and potentiates cytokine-mediated hematopoietic suppression in vitro. Blood, 1995, 85, 3183-3190.
13. Selleri, C.; Maciejewski, J.P.; Sato, T.; Young, N.S. Interferongamma constitutively expressed in the stromal microenvironment of human marrow cultures mediates potent hematopoietic inhibition. Blood, 1996, 87, 4149-4157.
14. Sloand, E.; Maciejewski, J.P.; Tisdale, J.; Follman, D.; Young, N.S. Intracellular Interferon-γ (IFN-γ) in circulating and marrow T cells detected by flow cytometry and the response to immunosuppressive therapy in patients with aplastic anemia. Blood, 2002, 100, 3129-3135.
15. Kulkarni, S.; Martin, M.P.; Carrington, M. The Yin and Yang of HLA and KIR in human disease. Semin. Immunol., 2008, 20, 343-352.
16. Williams, A.P.; Bateman, A.R.; Khakoo, S.I. Hanging in the balance. KIR and their role in disease. Mol. Interv., 2005, 5, 226-240.
17. Hang, L.W.; Hsia, T.C.; Chen, W.C.; Chen, H.Y.; Tsai, J.J.; Tsai, F.J. Interleukin-10 gene -627 allele variants, not interleukin-I beta gene and receptor antagonist gene polymorphisms, are associated with atopic bronchial asthma. J. Clin. Lab. Anal., 2003, 17, 168-173.
18. Pulleyn, L.J.; Newton, R.; Adcock, I.M.; Barnes, P.J. TGFbeta1 allele association with asthma severity. Hum. Genet., 2001, 109, 623-627.
19. Waldron-Lynch, F.; Adams, C.; Amos, C.; Zhu, D.K.; McDermott, M.F.; Shanahan, F.; Molloy, M.G.; O'Gara, F. Tumour necrosis factor 5' promoter single nucleotide polymorphisms influence susceptibility to rheumatoid arthritis (RA) in immunogenetically defined multiplex RA families. Genes Immun., 2001, 2, 82-87.
20. Buchs, N.; Silvestri, T.; di Giovine, F.S.; Chabaud, M.; Vannier, E.; Duff, G.W.; Miossec, P. IL-4 VNTR gene polymorphism in chronic polyarthritis. The rare allele is associated with protection against destruction. Rheumatology (Oxford), 2000, 39, 1126-1131.
21. Sugiura, Y.; Niimi, T.; Sato, S.; Yoshinouchi, T.; Banno, S.; Naniwa, T.; Maeda, H.; Shimizu, S.; Ueda, R. Transforming growth factor beta1 gene polymorphism in rheumatoid arthritis. Ann. Rheum. Dis., 2002, 61, 826-828.
22. D'Alfonso, S.; Rampi, M.; Bocchio, D.; Colombo, G.; Scorza-Smeraldi, R.; Momigliano-Richiardi, P. Systemic lupus erythematosus candidate genes in the Italian population: evidence for a significant association with interleukin-10. Arthritis Rheum., 2000, 43, 120-128.
23. Rood, M.J.; van Krugten, M.V.; Zanelli, E.; van der Linden, M.W.; Keijsers, V.; Schreuder, G.M.; Verduyn, W.; Westendorp, R.G.; de Vries, R.R.; Breedveld, F.C.; Verweij, C.L.; Huizinga, TW. TNF-308A and HLA-DR3 alleles contribute independently to susceptibility to systemic lupus erythematosus. Arthritis Rheum., 2000, 43, 129-134.
24. Poggi, A.; Negrini, S.; Zocchi, M.R.; Massaro, A.M.; Garbarino, L.; Lastraioli, S.; Gargiulo, L.; Luzzatto, L.; Notaro, R. Patients with paroxysmal nocturnal hemoglobinuria have a high frequency of peripheral-blood T cells expressing activating isoforms of inhibiting superfamily receptors. Blood, 2005, 106, 2399-2408.
25. Sugimori, C.; Yamazaki, H.; Feng, X.; Mochizuki, K.; Kondo, Y.; Takami, A.; Chuhjo, T.; Kimura, A.; Teramura, M.; Mizoguchi, H.; Omine, M.; Nakao, S. Roles of DRB1 *1501 and DRB1 *1502 in the pathogenesis of aplastic anemia. Exp. Hematol., 2007, 35, 13-20.
26. Saunthararajah, Y.; Nakamura, R.; Nam, J.M.; Robyn, J.; Loberiza, F.; Maciejewski, J.P.; Simonis, T.; Molldrem, J.; Young, N.S.; Barrett, A.J. HLA-DR15 (DR2) is overrepresented in myelodysplastic syndrome and aplastic anemia and predicts a response to immunosuppression in myelodysplastic syndrome. Blood, 2002, 100, 1570-1574.
27. Orr, M.T.; Lanier, L.L. Natural killer cell education and tolerance. Cell, 2010, 142, 847-56.
28. Moretta, L.; Locatelli, F.; Pende, D.; Marcenaro, E.; Mingari, M.C.; Moretta, A. Killer Ig-like receptor-mediated control of natural killer cell alloreactivity in haploidentical hematopoietic stem cell transplantation. Blood, 2010, 117, 764-771.
29. Littera, R.; Orrù, N.; Vacca, A.; Bertaina, A.; Caocci, G.; Mulargia, M.; Giardini, C.; Piras, E.; Mastronuzzi, A.; Vinti, L.; Orrù, S.; Locatelli, F.; Carcassi, C.; La Nasa, G. The role of killer immunoglobulin-like receptor haplotypes on the outcome of unrelated donor haematopoietic SCT for thalassaemia. Bone Marrow Transplant., 2010, 45, 1618-1624.
30. Yen, J.H.; Moore, B.E.; Nakajima, T.; Scholl, D.; Schaid, D.J.; Weyand, C.M.; Goronzy, J.J. Major histocompatibility complex class I recognizing receptors are disease risk genes in rheumatoid arthritis. J. Exp. Med., 2001, 193, 1159-1167.
31. van der Slik, A.R.; Koeleman B.P.; Verduijn W.; Bruining, G.J.; Roep, B.O.; Giphart, M.J. KIR in type 1 diabetes: disparate distribution of activating and inhibitory natural killer cell receptors in patients versus HLA-matched control subjects. Diabetes, 2003, 52, 2639-2642.
32. Momot, T.; Koch, S.; Hunzelmann, N.; Krieg, T.; Ulbricht, K.; Schmidt, R.E.; Witte, T. Association of killer cell immunoglobulin like receptors with scleroderma. Arthritis Rheum., 2004, 50, 1561-1565.
33. Nelson, G.W.; Martin, M.P.; Gladman, D.; Wade, J.; Trowsdale, J.; Carrington, M. Cutting edge: heterozygote advantage in autoimmune disease: hierarchy of protection/susceptibility conferred by HLA and killer Ig-like receptor combinations in psoriatic arthritis. J. Immunol., 2004, 173, 4273-4276.
34. Howe, E.C.; Wlodarski, M.; Ball, E.J.; Rybicki, L.; Maciejewski, JP. Killer immunoglobulin-like receptor genotype in immunemediated bone marrow failure syndromes. Exp. Hematol., 2005, 33, 1357-1362.
35. Rajagopalan, S.; Long, E.O. Understanding how combinations of HLA and KIR genes influence disease. J. Exp. Med., 2005, 201, 1025-1029.
36. Passweg, J.R.; Huard, B.; Tiercy, J.M.; Roosnek, E. HLA and KIR polymorphisms affect NK-cell anti-tumor activity. Trends Immunol., 2007, 28, 437-441.
37. Seitz, M.; Wirthmuller, U.; Moller, B.; Villiger, P.M. The -308 tumour necrosis factor-alpha gene polymorphism predicts therapeutic response to TNFalpha-blockers in rheumatoid arthritis and spondyloarthritis patients. Rheumatology (Oxford); 2007, 46, 93-96.
38. Gidvani, V.; Ramkissoon, S.; Sloand, E.M.; Young, N.S. Cytokine gene polymorphisms in acquired bone marrow failure. Am. J. Hematol., 2007, 82, 721-724.
39. Powers, M.P.; Nishino, H.; Luo, Y.; Raza, A.; Vanguri, A.; Rice, L.; Zu, Y.; Chang, CC. Polymorphisms in TGFbeta and TNFalpha are associated with the myelodysplastic syndrome phenotype. Arch. Pathol. Lab. Med., 2007, 131, 1789-1793.
40. International Agranulocytosis and Aplastic anaemia study group: Incidence of aplastic anaemia: The relevance of diagnostic criteria. Blood, 1987, 70, 1718-1721.
41. Coakley, G.; Brooks, D.; Iqbal, M.; Kondeatis, E.; Vaughan, R.; Loughran, Jr T.P.; Panayi, G.S.; Lanchbury, J.S. Major histocompatility complex haplotypic associations in Felty's syndrome and large granular lymphocyte syndrome are secondary to allelic association with HLA-DRB1*0401. Rheumatology (Oxford), 2000, 39, 393-398.
42. Nearman, Z.P.; Wlodarski, M.; Jankowska, A.M.; Howe, E.; Narvaez, Y.; Ball, E.; Maciejewski, J.P. Immunogenetic factors determining the evolution of T-cell large granular lymphocyte leukaemia and associated cytopenias. Br. J. Haematol., 2007, 136, 237-428.
43. Yawata, M.; Yawata, N.; Draghi, M.; Little, A.M.; Partheniou, F.; Parham, P. Roles for HLA and KIR polymorphisms in natural killer cell repertoire selection and modulation of effector function. J. Exp. Med., 2006, 203, 633-645.
44. Lanier, L.L. NK cell recognition. Annu. Rev. Immunol., 2005, 23, 225-274.
45. Velardi, A.; Ruggeri, L.; Moretta, A; Moretta, L. NK cells: a lesson from mismatched hematopoietic transplantation. Trends Immunol., 2002, 23, 438-444.
46. Moretta, L.; Bottino, C.; Pende, D.; Mingari, M.C.; Biassoni R.; Moretta A. Human natural killer cells: their origin, receptors and function. Eur. J. Immunol., 2002, 32, 1205-1211.
47. Moretta, A.; Bottino, C.; Mingari, M.C.; Biassoni, R.; Moretta, L. What is a natural killer cell? Nat. Immunol., 2002, 3, 6-8.
48. Biassoni, R.; Cantoni, C.; Pende, D.; Sivori, S.; Parolini, S.; Vitale, M.; Bottino, C.; Moretta, A. Human natural killer cell receptors and co-receptors. Immunol. Rev., 2001, 181, 203-214.
49. Stewart, C.A.; Vivier, E.; Colonna, M. Strategies of natural killer cell recognition and signaling. Curr. Top. Microbiol. Immunol., 2006, 298, 1-21.
50. Yawata, M.; Yawata, N.; Draghi, M.; Little, A.M.; Partheniou, F.; Parham, P. Roles for HLA and KIR polymorphisms in natural killer cell repertoire selection and modulation of effector function. J. Exp. Med., 2006, 203, 633-645.
51. Thananchai, H.; Gillespie, G.; Martin, M.P.; Bashirova, A.; Yawata, N.; Yawata, M.; Easterbrook, B.; McVicar, D.W.; Maenaka, K.; Parham, P.; Carrington, M.; Dong, T.; Roland-Jones, S. Cutting edge: allele-specific and peptide-dependent interactions between KIR3DL1 and HLA-A and HLA-B. J. Immunol., 2007, 178, 33-37.
52. Jin, P.; Wang, E. Polymorphism in clinical immunology. From HLA typing to immunogenetic profiling. J. Transl. Med., 2003, 1, 1-11.
53. Yang, L. TGFbeta, a potent regulator of tumor microenvironment and host immune response, implication for therapy. Curr. Mol. Med., 2010, 10, 374-380.
54. Mantel, P.Y.; Schmidt-Weber, C.B. Transforming growth factorbeta: recent advances on its role in immune tolerance. Methods Mol. Biol., 2011, 677, 303-38.
55. Mills, KH. Induction, function and regulation of IL-17-producing T cells. Eur. J. Immunol., 2008, 38, 2636-2649.
56. Söderberg, S.S.; Karlsson, G.; Karlsson, S. Complex and context dependent regulation of hematopoiesis by TGF-beta superfamily signaling. Ann. N. Y. Acad. Sci., 2009, 1176, 55-69.
57. Girnita, D.M.; Burckart, G.; Zeevi, A. Effect of cytokine and pharmacogenomic genetic polymorphisms in transplantation. Curr. Opin. Immunol., 2008, 20, 614-625.
58. Berro, M.; Mayor, N.P.; Maldonado-Torres, H.; Cooke, L.; Kusminsky, G.; Marsh, S.G.; Madrigal, J.A.; Shaw, BE. Association of functional polymorphisms of the transforming growth factor B1 gene with survival and graft-versus-host disease after unrelated donor hematopoietic stem cell transplantation. Haematologica, 2010, 95, 276-383.
59. Fermo, E.; Bianchi, P.; Barcellini, W.; Pedotti, P.; Boschetti, C.; Alfinito, F.; Cortelezzi, A.; Zanella, A. Immunoregulatory cytokine polymorphisms in Italian patients affected by paroxysmal nocturnal haemoglobinuria and aplastic anaemia. Eur. J. Immunogenet., 2004, 31, 267-269.
60. Gyulai, Z.; Balog, A.; Borbényi, Z.; Mándi, Y. Genetic polymorphisms in patients with myelodysplastic syndrome. Acta Microbiol. Immunol. Hung., 2005, 52, 463-75.
61. Smith, A.J.; Humphries, S.E. Cytokine and cytokine receptor gene polymorphisms and their functionality. Cytokine Growth Factor Rev., 2009, 20, 43-59.
62. Pravica, V.; Perrey, C.; Stevens, A.; Lee, J.H.; Hutchinson, I.V. 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., 2000, 61, 863-866.
63. Kroeger, K.M.; Carville, K.S.; Abraham, L.J. The -308 tumour necrosis factor-alpha promoter polymorphism affects transcription. Mol. Immunol., 1997, 34, 391-399.
64. Allen, R.D., Polymorphism of the human TNF-α promoter- random variation or functional diversity? Mol. Immunol., 1999, 36, 1017-1027.
65. de Paz, B.; Alperi-López, M.; Ballina-García, F.J.; Prado, C.; Gutiérrez, C.; Suárez, A. Cytokines and regulatory T cells in rheumatoid arthritis and their relationship with response to corticosteroids. J. Rheumatol., 2010, 37, 2502-2510.
66. Asadullah, K.; Sterry, W.; Volk, H.D. Interleukin-10 therapy-- review of a new approach. Pharmacol. Rev., 2003, 55, 241-269.
67. López, P.; Gutiérrez, C.; Suárez, A. IL-10 and TNFalpha genotypes in SLE. J. Biomed. Biotechnol., 2010, 83, 83-90.
68. Thibodeau, J.; Bourgeois-Daigneault, M.C.; Huppé, G.; Tremblay, J.; Aumont, A.; Houde, M.; Bartee, E.; Brunet, A.; Gauvreau, M.E.; de Gassart, A.; Gatti, E.; Baril, M.; Cloutier, M.; Bontron, S.; Früh, K.; Lamarre, D.; Steimle, V. Interleukin-10-induced MARCH1 mediates intracellular sequestration of MHC class II in monocytes. Eur. J. Immunol., 2008, 38, 1225-1230.
69. Lin, M.T.; Storer, B.; Martin, P.J.; Tseng, L.H.; Gooley, T.; Chen, P.J.; Hansen, J.A. Relation of an interleukin-10 promoter polymorphism to graft-versus-host disease and survival after hematopoietic-cell transplantation. N. Engl. J. Med., 2003, 349, 2201-2210.
70. Tseng, L.H.; Storer, B.; Petersdorf, E.; Lin, M.T.; Chien, J.W.; Grogan, B.M.; Malkki, M.; Chen, P.J.; Zhao, L.P.; Martin, P.J.; Hansen, J.A. IL10 and IL10 receptor gene variation and outcomes after unrelated and related hematopoietic cell transplantation. Transplantation, 2009, 87, 704-710.
71. Marsh, J. Making therapeutic decisions in adults with aplastic anemia. Hematology, 2006, 78-85.
72. Bacigalupo, A. Aplastic anemia: pathogenesis and treatment. Hematology, 2007, 23-28.
73. Shimamoto, T.; Tohyama, K.; Okamoto, T.; Uchiyama, T.; Mori, H.; Tomonaga, M.; Asano, Y.; Niho, Y.; Teramura, M.; Mizoguchi, H.; Omine, M.; Ohyashiki, K. Cyclosporin A therapy for patients with myelodysplastic syndrome: multicenter pilot studies in Japan. Leuk. Res., 2003, 27, 783-788.
74. Selleri, C.; Maciejewski, J.P.; Catalano, L.; Ricci, P.; Andretta, C.; Luciano, L.; Rotoli, B. Effects of cyclosporine on hematopoietic and immune functions in patients with hypoplastic myelodysplasia: in vitro and in vivo studies. Cancer, 2002, 95, 1911-1922.
75. Lee, Y.G.; Kim, I.; Kim, J.H.; Bae, J.Y.; Kwon, J.H.; Shin, D.Y.; Lee, J.E.; Song, E.Y.; Kim, H.K.; Yoon S.S.; Park, S.S.; Lee, D.S.; Han, K.S.; Park, M.H.; Hong, Y.C.; Park, S.; Kim, BK. Impact of cytokine gene polymorphisms on risk and treatment outcomes of aplastic anemia. Ann. Hematol., 2010, 90, 510-521.