Genetic variations in T-cell activation and effector pathways modulate alloimmune responses after allogeneic hematopoietic stem cell transplantation in patients with hematologic malignancies

Haematologica

Volumn 97, Issue 12, 2012, Pages 1804-1812

  Xiao, Haowen ^a,b   Luo, Yi ^a   Lai, Xiaoyu ^a   Fu, Shan ^a   Shi, Jimin ^a   Tan, Yamin ^a   He, Jingsong ^a   Xie, Wanzhuo ^a   Zheng, Weiyan ^a   Wang, Li Mengmeng ^a   Zhang, Lifei ^a   Liu, Lizhen ^a   Ye, Xiujin ^a   Yu, Xiaohong ^a   Cai, Zhen ^a   Lin, Maofang ^a   Huang, He ^a  

^a ZHEJIANG UNIVERSITY   (China)

^b Guangzhou Liuhuaqiao Hospital   (China)

Author keywords

CD28; Cytotoxic T lymphocyte antigen 4; Fas; Fas ligand; Granzyme B; Hematopoietic stem cell transplantation; Inducible co stimulator; Polymorphism

Indexed keywords

BUSULFAN; CD28 ANTIGEN; CYCLOPHOSPHAMIDE; CYCLOSPORIN A; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; FAS ANTIGEN; FAS LIGAND; FLUDARABINE; FOSCARNET SODIUM; GANCICLOVIR; GENOMIC DNA; GRANZYME B; INDUCIBLE T CELL COSTIMULATOR; METHOTREXATE; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER;

ACUTE GRAFT VERSUS HOST DISEASE; ACUTE GRANULOCYTIC LEUKEMIA; ADOLESCENT; ADULT; ALLELE; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ALLOIMMUNITY; ARTICLE; CHILD; CYTOMEGALOVIRUS INFECTION; DNA POLYMORPHISM; DRUG DOSE REDUCTION; EFFECTOR CELL; FEMALE; GENOTYPE; HEMATOLOGIC MALIGNANCY; HUMAN; IMMUNE RESPONSE; LEUKEMIA RELAPSE; LOW DRUG DOSE; MAJOR CLINICAL STUDY; MALE; OVERALL SURVIVAL; RISK ASSESSMENT; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; T LYMPHOCYTE ACTIVATION;

ADOLESCENT; ADULT; ANTIGENS, CD28; ANTIGENS, CD95; CHILD; COHORT STUDIES; CTLA-4 ANTIGEN; FAS LIGAND PROTEIN; FEMALE; FOLLOW-UP STUDIES; GRAFT VS HOST DISEASE; GRANZYMES; HEMATOLOGIC NEOPLASMS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; IMMUNITY, CELLULAR; INDUCIBLE T-CELL CO-STIMULATOR PROTEIN; LYMPHOCYTE ACTIVATION; MALE; MIDDLE AGED; NEOPLASM RECURRENCE, LOCAL; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; RISK ASSESSMENT; SIBLINGS; SURVIVAL RATE; T-LYMPHOCYTES; TISSUE DONORS; TRANSPLANTATION, HOMOLOGOUS; YOUNG ADULT;

EID: 84870448146     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2012.066159     Document Type: Article

References (52)

1. van den Brink MR, Porter DL, Giralt S, Lu SX, Jenq RR, Hanash A, et al. Relapse after allogeneic hematopoietic cell therapy. Biol Blood Marrow Transplant. 2010;16(1 Suppl): S138-45.
2. Penack O, Holler E, van den Brink MR. Graft-versus-host disease: regulation by microbe-associated molecules and innate immune receptors. Blood. 2010;115(10): 1865-72.
3. Rocha V, Porcher R, Fernandes JF, Filion A, Bittencourt H, Silva W Jr, et al. Association of drug metabolism gene polymorphisms with toxicities, graft-versus-host disease and survival after HLA-identical sibling hematopoietic stem cell transplantation for patients with leukemia. Leukemia. 2009; 23(3):545-56.
4. Mayor NP, Shaw BE, Hughes DA, Maldonado-Torres H, Madrigal JA, Keshav S, et al. Single nucleotide polymorphisms in the NOD2/CARD15 gene are associated with an increased risk of relapse and death for patients with acute leukemia after hematopoietic stem-cell transplantation with unrelated donors. J Clin Oncol. 2007; 25(27):4262-9.
5. Espinoza JL, Takami A, Onizuka M, Sao H, Akiyama H, Miyamura K, et al. NKG2D gene polymorphism has a significant impact on transplant outcomes after HLA-fullymatched unrelated bone marrow transplantation for standard risk hematologic malignancies. Haematologica. 2009;94(10):1427-34.
6. Lenschow DJ, Walunas TL, Bluestone JA. CD28/B7 system of T cell costimulation. Annu Rev Immunol. 1996;14:233-58.
7. Hutloff A, Dittrich AM, Beier KC, Eljaschewitsch B, Kraft R, Anagnostopoulos I, et al. ICOS is an inducible T-cell co-stimulator structurally and functionally related to CD28. Nature. 1999;397(6716):263-6.
8. Teft WA, Kirchhof MG, Madrenas J. A molecular perspective of CTLA-4 function. Annu Rev Immunol. 2006;24:65-97.
9. Kagi D, Vignaux F, Ledermann B, Burki K, Depraetere V, Nagata S, et al. Fas and perforin pathways as major mechanisms of T cell-mediated cytotoxicity. Science 1994; 265(5171):528-30.
10. Lowin B, Hahne M, Mattmann C, Tschopp J. Cytolytic T-cell cytotoxicity is mediated through perforin and Fas lytic pathways. Nature. 1994; 370(6491):650-2.
11. Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G, et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature. 2003;423(6939):506-11.
12. Suwalska K, Pawlak E, Karabon L, Tomkiewicz A, Dobosz T, Urbaniak-Kujda D, et al. Association studies of CTLA-4, CD28, and ICOS gene polymorphisms with B-cell chronic lymphocytic leukemia in the Polish population. Hum Immunol. 2008; 69(3):193-201.
13. Liu Y, Wen QJ, Yin Y, Lu XT, Pu SH, Tian HP, et al. FASLG polymorphism is associated with cancer risk. Eur J Cancer 2009; 45(14): 2574-8.
14. Marin LA, Muro M, Moya-Quiles MR, Miras M, Minguela A, Bermejo J, et al. Study of Fas (CD95) and FasL (CD178) polymorphisms in liver transplant recipients. Tissue Antigens. 2006;67(2):117-26.
15. Haimila K, Turpeinen H, Alakulppi NS, Kyllonen LE, Salmela KT, Partanen J. Association of genetic variation in inducible costimulator gene with outcome of kidney transplantation. Transplantation. 2009; 87(3):393-6.
16. Xiao HW, Lai XY, Luo Y, Shi JM, Tan YM, He JS, et al. Relationship between TNFA, TNFB and TNFRII gene polymorphisms and outcome after unrelated hematopoietic cell transplantation in a Chinese population. Bone Marrow Transplant. 2011;46(3):400-7.
17. Xiao H, Cao W, Lai X, Luo Y, Shi J, Tan Y, et al. Immunosuppressive cytokine gene polymorphisms and outcome after related and unrelated hematopoietic cell transplantation in a chinese population. Biol Blood Marrow Transplant. 2011;17(4):542-9.
18. Vogelsang GB, Arai S. Mycophenolate mofetil for the prevention and treatment of graft-versus-host disease following stem cell transplantation: preliminary findings. Bone Marrow Transplant. 2001;27(12):1255-62.
19. Neumann F, Graef T, Tapprich C, Vaupel M, Steidl U, Germing U, et al. Cyclosporine A and mycophenolate mofetil vs cyclosporine A and methotrexate for graft-versus-host disease prophylaxis after stem cell transplantation from HLA-identical siblings. Bone Marrow Transplant. 2005;35(11):1089-93.
20. Ostronoff F, Ostronoff M, Souto-Maior AP, Domingues M, Sucupira A, Manso DA, et al. Prospective trial of mycophenolate mofetilcyclosporine A prophylaxis for acute GVHD after G-CSF stimulated allogeneic bone marrow transplantation with HLA-identical sibling donors in patients with severe aplastic anemia and hematological malignancies. Clin Transplant. 2009;23(1):33-8.
21. Pinana JL, Valcarcel D, Fernandez-Aviles F, Martino R, Rovira M, Barba P, et al. MTX or mycophenolate mofetil with CsA as GVHD prophylaxis after reduced-intensity conditioning PBSCT from HLA-identical siblings. Bone Marrow Transplant. 2010;45(9):1449-56.
22. Huang H, Lin M, Meng H, Qian W, Jin J, Huang J, et al. [Combination of mycophenolate mofetil with cyclosporine A and methotrexate as acute GVHD prophylaxis after unrelated donor allogeneic bone marrow transplantation]. Zhonghua Xue Ye Xue Za Zhi. 2001;22(2):76-8.
23. Huang H, Zheng W, Lin M, Fu J, Zhang R. [Prophylaxis of acute graft-versus-host disease after allogeneic bone marrow transplantation by mycophenolate mofetil in a murine model]. Zhonghua Xue Ye Xue Za Zhi. 2002;23(4):191-3.
24. Przepiorka D, Weisdorf D, Martin P, Klingemann HG, Beatty P, Hows J, et al. 1994 Consensus Conference on Acute GVHD Grading. Bone Marrow Transplant. 1995;15(6):825-8.
25. Boeckh M, Ljungman P. How we treat cytomegalovirus in hematopoietic cell transplant recipients. Blood. 2009;113(23):5711-9.
26. Boeckh M, Nichols WG. The impact of cytomegalovirus serostatus of donor and recipient before hematopoietic stem cell transplantation in the era of antiviral prophylaxis and preemptive therapy. Blood. 2004;103(6):2003-8.
27. Ljungman P, Griffiths P, Paya C. Definitions of cytomegalovirus infection and disease in transplant recipients. Clin Infect Dis. 2002; 34(8):1094-7.
28. Scrucca L, Santucci A, Aversa F. Competing risk analysis using R: an easy guide for clinicians. Bone Marrow Transplant. 2007;40(4): 381-7.
29. Gooley TA, Leisenring W, Crowley J, Storer BE. Estimation of failure probabilities in the presence of competing risks: new representations of old estimators. Stat Med. 1999; 18(6):695-706.
30. Wing K, Onishi Y, Prieto-Martin P, Yamaguchi T, Miyara M, Fehervari Z, et al. CTLA-4 control over Foxp3+ regulatory T cell function. Science. 2008;322(5899):271-5.
31. Kouki T, Sawai Y, Gardine CA, Fisfalen ME, Alegre ML, DeGroot LJ. CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves' disease. J Immunol. 2000;165(11):6606-11.
32. Parks CG, Hudson LL, Cooper GS, Dooley MA, Treadwell EL, St Clair EW, et al. CTLA- 4 gene polymorphisms and systemic lupus erythematosus in a population-based study of whites and African-Americans in the southeastern United States. Lupus. 2004; 13(10):784-91.
33. Bosch-Vizcaya A, Perez-Garcia A, Brunet S, Solano C, Buno I, Guillem V, et al. Donor CTLA-4 genotype influences clinical outcome after T cell-depleted allogeneic hematopoietic stem cell transplantation from HLA-identical sibling donors. Biol Blood Marrow Transplant. 2012;18(1):100-5.
34. Orru S, Orru N, Manolakos E, Littera R, Caocci G, Giorgiani G, et al. Recipient CTLA-4*CT60-AA genotype is a prognostic factor for acute graft-versus-host disease in hematopoietic stem cell transplantation for thalassemia. Hum Immunol. 2012;73(3): 282-6.
35. Perez-Garcia A, De la Camara R, Roman-Gomez J, Jimenez-Velasco A, Encuentra M, Nieto JB, et al. CTLA-4 polymorphisms and clinical outcome after allogeneic stem cell transplantation from HLA-identical sibling donors. Blood. 2007;110(1):461-7.
36. Murase M, Nishida T, Onizuka M, Inamoto Y, Sugimoto K, Imahashi N, et al. Cytotoxic T-lymphocyte antigen 4 haplotype correlates with relapse and survival after allogeneic hematopoietic SCT. Bone Marrow Transplant. 2011;46(11):1444-9.
37. Metaxas Y, Bertz H, Spyridonidis A, Spyroupoulou-Vlachou M, Porzelius C, Finke J. CT60 single-nucleotide polymorphism as a surrogate marker for donor lymphocyte infusion outcome after allogeneic cell transplantation for acute leukemia. Bone Marrow Transplant. 2012;47(3):411-5.
38. Perez-Garcia A, Brunet S, Berlanga JJ, Tormo M, Nomdedeu J, Guardia R, et al. CTLA-4 genotype and relapse incidence in patients with acute myeloid leukemia in first complete remission after induction chemotherapy. Leukemia. 2009;23(3):486-91.
39. Huurman VA, Unger WW, Koeleman BP, Oaks MK, Chandraker AK, Terpstra OT, et al. Differential inhibition of autoreactive memory- and alloreactive naive T cell responses by soluble cytotoxic T lymphocyte antigen 4 (sCTLA4), CTLA4Ig and LEA29Y. Clin Exp Immunol. 2007;150(3): 487-93.
40. Kurschus FC, Jenne DE. Delivery and therapeutic potential of human granzyme B. Immunol Rev. 2010;235(1):159-71.
41. Schmaltz C, Alpdogan O, Horndasch KJ, Muriglan SJ, Kappel BJ, Teshima T, et al. Differential use of Fas ligand and perforin cytotoxic pathways by donor T cells in graft-versus-host disease and graft-versusleukemia effect. Blood. 2001;97(9):2886-95.
42. Higaki Y, Yamada O, Okamura T, Mizoguchi H, Kawashima M. Granzyme-Bcontaining lymphocyte involvement in epidermal injury in graft-versus-host disease. Dermatology. 2001;202(2):94-8.
43. Jaksch M, Remberger M, Mattsson J. Increased immune transcript levels are correlated with acute graft-versus-host disease and cytomegalovirus response after allogeneic stem cell transplantation. Transplantation. 2004;77(2):195-200.
44. Kircher B, Schumacher P, Nachbaur D. Granzymes A and B serum levels in allo- SCT. Bone Marrow Transplant. 2009; 43(10):787-91.
45. Espinoza LJ, Takami A, Nakata K, Yamada K, Onizuka M, Kawase T, et al. Genetic variants of human granzyme B predict transplant outcomes after HLA matched unrelated bone marrow transplantation for myeloid malignancies. PLoS One. 2011;6 (8):e23827.
46. McIlroy D, Cartron PF, Tuffery P, Dudoit Y, Samri A, Autran B, et al. A triple-mutated allele of granzyme B incapable of inducing apoptosis. Proc Natl Acad Sci USA. 2003; 100(5):2562-7.
47. Girnita DM, Webber SA, Brooks MM, Ferrell R, Girnita AL, Burckart GJ, et al. Genotypic variation and phenotypic characterization of granzyme B gene polymorphisms. Transplantation. 2009;87(12):1801-6.
48. Muschen M, Warskulat U, Beckmann MW. Defining CD95 as a tumor suppressor gene. J Mol Med (Berl). 2000;78(6):312-25.
49. Kanemitsu S, Ihara K, Saifddin A, Otsuka T, Takeuchi T, Nagayama J, et al. A functional polymorphism in fas (CD95/APO-1) gene promoter associated with systemic lupus erythematosus. J Rheumatol. 2002;29(6): 1183-8.
50. Sibley K, Rollinson S, Allan JM, Smith AG, Law GR, Roddam PL, et al. Functional FAS promoter polymorphisms are associated with increased risk of acute myeloid leukemia. Cancer Res. 2003;63(15):4327-30.
51. Farre L, Bittencourt AL, Silva-Santos G, Almeida A, Silva AC, Decanine D, et al. Fas 670 promoter polymorphism is associated to susceptibility, clinical presentation, and survival in adult T cell leukemia. J Leukoc Biol. 2008;83(1):220-2.
52. Lai HC, Lin WY, Lin YW, Chang CC, Yu MH, Chen CC, et al. Genetic polymorphisms of FAS and FASL (CD95/CD95L) genes in cervical carcinogenesis: an analysis of haplotype and gene-gene interaction. Gynecol Oncol. 2005;99(1):113-8.