The major histocompatibility complex: A model for understanding graft-versus-host disease

Blood

Volumn 122, Issue 11, 2013, Pages 1863-1872

  Petersdorf, Effie W ^a  

^a Fred Hutchinson Cancer Research Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HLA E ANTIGEN; HLA G ANTIGEN; MAJOR HISTOCOMPATIBILITY ANTIGEN; MAJOR HISTOCOMPATIBILITY COMPLEX CLASS I CHAIN RELATED GENE A PROTEIN; TUMOR NECROSIS FACTOR; UNCLASSIFIED DRUG; HLA ANTIGEN;

CLINICAL PRACTICE; COMPARATIVE STUDY; FUTUROLOGY; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME-WIDE ASSOCIATION STUDY; GRAFT VERSUS HOST REACTION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HLA MATCHING; HLA SYSTEM; HUMAN; IMMUNE SYSTEM; IMMUNOGENETICS; MAJOR HISTOCOMPATIBILITY COMPLEX; NONHUMAN; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; UNRELATED DONORS; GENETICS; HEMATOLOGIC DISEASE; HISTOCOMPATIBILITY; IMMUNOLOGY; KAPLAN MEIER METHOD; METHODOLOGY;

GRAFT VS HOST DISEASE; HEMATOLOGIC NEOPLASMS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HISTOCOMPATIBILITY; HLA ANTIGENS; HUMANS; KAPLAN-MEIER ESTIMATE; MAJOR HISTOCOMPATIBILITY COMPLEX; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84887330998     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2013-05-355982     Document Type: Review

References (101)

1. Middleton PG, Cullup H, Dickinson AM, et al. Vitamin D receptor gene polymorphism associates with graft-versus-host disease and survival in HLA-matched sibling allogeneic bone marrow transplantation. Bone Marrow Transplant. 2002;30(4): 223-228.
2. Cho HJ, Shin DY, Kim JH, et al. Impact of vitamin D receptor gene polymorphisms on clinical outcomes of HLA-matched sibling hematopoietic stem cell transplantation. Clin Transplant. 2012; 26(3):476-483.
3. Rocha V, Porcher R, Fernandes JF, 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): 545-556.
4. Ostrovsky O, Shimoni A, Rand A, Vlodavsky I, Nagler A. Genetic variations in the heparanase gene (HPSE) associate with increased risk of GVHD following allogeneic stem cell transplantation: effect of discrepancy between recipients and donors. Blood. 2010;115(11): 2319-2328.
5. Trowsdale J. HLA genomics in the third millennium. [Review] Curr Opin Immunol. 2005; 17(5):498-504.
6. Shiina T, Hosomichi K, Inoko H, Kulski JK. The HLA genomic loci map: expression, interaction, diversity and disease. [Review] J Hum Genet. 2009;54(1):15-39.
7. Petersdorf EW, Hansen JA, Martin PJ, et al. Major-histocompatibility-complex class I alleles and antigens in hematopoietic-cell transplantation. N Engl J Med. 2001;345(25): 1794-1800.
8. Lee SJ, Klein J, Haagenson M, et al. Highresolution donor-recipient HLA matching contributes to the success of unrelated donor marrow transplantation. Blood. 2007;110(13): 4576-4583.
9. Morishima Y, Kawase T, Matsuo K, et al. Identification of non-permissive HLA allele mismatch combinations and amino acid substitution responsible for acute graft-versushost disease in unrelated allogeneic bone marrow transplantation. [Abstract] Blood. 2006; 108(Part 1):54a-55a, #170.
10. Arora M, Weisdorf DJ, Spellman SR, et al. HLA-identical sibling compared with 8/8 matched and mismatched unrelated donor bone marrow transplant for chronic phase chronic myeloid leukemia. J Clin Oncol. 2009;27(10):1644-1652.
11. Petersdorf EW, Malkki M, Gooley TA, Martin PJ, Guo Z. MHC haplotype matching for unrelated hematopoietic cell transplantation. PLoS Med. 2007;4(1):e8.
12. The MHC Sequencing Consortium. Complete sequence and gene map of a human major histocompatibility complex. The MHC sequencing consortium. Nature. 1999; 401(6756):921-923.
13. Allcock RJ, Atrazhev AM, Beck S, et al. The MHC haplotype project: a resource for HLAlinked association studies. [Review] Tissue Antigens. 2002;59(6):520-521.
14. Stewart CA, Horton R, Allcock RJ, et al. Complete MHC haplotype sequencing for common disease gene mapping. Genome Res. 2004;14(6):1176-1187.
15. Traherne JA, Horton R, Roberts AN, et al. Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history. PLoS Genet. 2006;2(1):e9.
16. Horton R, Gibson R, Coggill P, et al. Variation analysis and gene annotation of eight MHC haplotypes: the MHC Haplotype Project. Immunogenetics. 2008;60(1):1-18.
17. International HapMap Consortium. A haplotype map of the human genome. Nature. 2005; 437(7063):1299-1320.
18. 1000 Genomes. A Deep Catalog of Human Genetic Variation. 2013. http:// browser.1000genomes.org/Homo-sapiens/ UserData/Haploview. Accessed March 1, 2013.
19. Carrington M. Recombination within the human MHC. [Review] Immunol Rev. 1999;167: 245-256.
20. Parham P. MHC class I molecules and KIRs in human history, health and survival. [Review] Nat Rev Immunol. 2005;5(3):201-214.
21. Piazza A. Haplotype and linkage disequilibrium from the three-locus phenotypes. In: Kissmeyer- Nielsen F, ed. Histocompatibility Testing 1975. Copenhagen, Denmark: Munksgaard; 1975: 923-927
22. Larsen CE, Alper CA. The genetics of HLA-associated disease. [Review] Curr Opin Immunol. 2004;16(5):660-667.
23. Morishima S, Ogawa S, Matsubara A, et al; Japan Marrow Donor Program. Impact of highly conserved HLA haplotype on acute graft-versushost disease. Blood. 2010;115(23):4664-4670.
24. The MHC Haplotype Consortium; Beck S, Sawcer S, Todd J, et al. The MHC Haplotype Project. 2013. London, UCL Cancer Institute. http://www.ucl.ac.uk/cancer/medical-genomics/ mhc. Accessed April 28, 2013.
25. Ahmad T, Neville M, Marshall SE, et al. Haplotype-specific linkage disequilibrium patterns define the genetic topography of the human MHC. Hum Mol Genet. 2003;12(6): 647-656.
26. Smith WP, Vu Q, Li SS, Hansen JA, Zhao LP, Geraghty DE. Toward understanding MHC disease associations: partial resequencing of 46 distinct HLA haplotypes. Genomics. 2006;87(5): 561-571.
27. Miretti MM, Walsh EC, Ke X, et al. A highresolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms. Am J Hum Genet. 2005;76(4): 634-646.
28. Yunis EJ, Larsen CE, Fernandez-Viña M, et al. Inheritable variable sizes of DNA stretches in the human MHC: conserved extended haplotypes and their fragments or blocks. Tissue Antigens. 2003;62(1):1-20.
29. Kruglyak L. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat Genet. 1999;22(2):139-144.
30. Gabriel SB, Schaffner SF, Nguyen H, et al. The structure of haplotype blocks in the human genome. Science. 2002;296(5576):2225-2229.
31. Walsh EC, Mather KA, Schaffner SF, et al. An integrated haplotype map of the human major histocompatibility complex. Am J Hum Genet. 2003;73(3):580-590.
32. Stenzel A, Lu T, Koch WA, et al. Patterns of linkage disequilibrium in the MHC region on human chromosome 6p. Hum Genet. 2004; 114(4):377-385.
33. Crawford DC, Akey DT, Nickerson DA. The patterns of natural variation in human genes. [Review] Annu Rev Genomics Hum Genet. 2005;6:287-312.
34. de Bakker PI, Burtt NP, Graham RR, et al. Transferability of tag SNPs in genetic association studies in multiple populations. Nat Genet. 2006; 38(11):1298-1303.
35. Undlien DE, Lie BA, Thorsby E. HLA complex genes in type 1 diabetes and other autoimmune diseases. Which genes are involved? [Review] Trends Genet. 2001;17(2):93-100.
36. Tishkoff SA, Verrelli BC. Role of evolutionary history on haplotype block structure in the human genome: implications for disease mapping. [Review] Curr Opin Genet Dev. 2003; 13(6):569-575.
37. Carlson CS, Eberle MA, Rieder MJ, Smith JD, Kruglyak L, Nickerson DA. Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nat Genet. 2003;33(4):518-521.
38. 1000 Genomes Project Consortium; Abecasis GR, Altshuler D, et al. A map of human genome variation from population-scale sequencing.. Nature. 2010;467(7319):1061-1073.
39. [Erratum appears in Nature. 2011;473(7348): 544]
40. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21(2):263-265.
41. Petersdorf EW, Malkki M, Gooley TA, et al. MHC-resident variation affects risks after unrelated donor hematopoietic cell transplantation. Sci Transl Med. 2012;4(144): 144ra101.
42. Petersdorf EW, Malkki M, Horowitz MM, Spellman SR, Haagenson MD, Wang T. Mapping MHC haplotype effects in unrelated donor hematopoietic cell transplantation. Blood. 2013;121(10):1896-1905.
43. Chien JW, Zhang XC, Fan W, et al. Evaluation of published single nucleotide polymorphisms associated with acute GVHD. Blood. 2012; 119(22):5311-5319.
44. Ishikawa Y, Kashiwase K, Akaza T, et al. Polymorphisms in TNFA and TNFR2 affect outcome of unrelated bone marrow transplantation. Bone Marrow Transplant. 2002; 29(7):569-575.
45. Nordlander A, Uzunel M, Mattsson J, Remberger M. The TNFd4 allele is correlated to moderateto- severe acute graft-versus-host disease after allogeneic stem cell transplantation. Br J Haematol. 2002;119(4):1133-1136.
46. Keen LJ, DeFor TE, Bidwell JL, Davies SM, Bradley BA, Hows JM. Interleukin-10 and tumor necrosis factor alpha region haplotypes predict transplant-related mortality after unrelated donor stem cell transplantation. Blood. 2004;103(9): 3599-3602.
47. Bettens F, Passweg J, Gratwohl A, et al. Association of TNFd and IL-10 polymorphisms with mortality in unrelated hematopoietic stem cell transplantation. Transplantation. 2006;81(9): 1261-1267.
48. Goyal RK, Lin Y, Schultz KR, et al. Tumor necrosis factor-alpha gene polymorphisms are associated with severity of acute graft-versushost disease following matched unrelated donor bone marrow transplantation in children: a Pediatric Blood and Marrow Transplant Consortium study. Biol Blood Marrow Transplant. 2010;16(7):927-936, e1.
49. Harkensee C, Oka A, Onizuka M, et al; Japan Marrow Donor Program. Single nucleotide polymorphisms and outcome risk in unrelated mismatched hematopoietic stem cell transplantation: an exploration study. Blood. 2012;119(26):6365-6372.
50. Bettens F, Passweg J, Schanz U, et al. Impact of HLA-DPB1 haplotypes on outcome of 10/10 matched unrelated hematopoietic stem cell donor transplants depends on MHC-linked microsatellite polymorphisms. Biol Blood Marrow Transplant. 2012;18(4):608-616.
51. Boukouaci W, Busson M, Peffault de Latour R, et al. MICA-129 genotype, soluble MICA, and anti-MICA antibodies as biomarkers of chronic graft-versus-host disease. Blood. 2009;114(25): 5216-5224.
52. Parmar S, Del Lima M, Zou Y, et al. Donor-recipient mismatches in MHC class I chain-related gene A in unrelated donor transplantation lead to increased incidence of acute graft-versus-host disease. Blood. 2009; 114(14):2884-2887.
53. Anderson E, Grzywacz B, Wang H, et al. Limited role of MHC class I chain-related gene A (MICA) typing in assessing graft-versus-host disease risk after fully human leukocyte antigen-matched unrelated donor transplantation. Blood. 2009; 114(21):4753-4754, author reply 4754-4755.
54. Tamouza R, Rocha V, Busson M, et al. Association of HLA-E polymorphism with severe bacterial infection and early transplant-related mortality in matched unrelated bone marrow transplantation. Transplantation. 2005;80(1): 140-144.
55. Tamouza R, Busson M, Rocha V, et al. Homozygous status for HLA-E∗0103 confers protection from acute graft-versus-host disease and transplant-related mortality in HLA-matched sibling hematopoietic stem cell transplantation. Transplantation. 2006;82(11):1436-1440.
56. Danzer M, Polin H, Pröll J, et al. Clinical significance of HLA-E∗0103 homozygosity on survival after allogeneic hematopoietic stem-cell transplantation. Transplantation. 2009;88(4): 528-532.
57. Ludajic K, Rosenmayr A, Faé I, et al. Association of HLA-E polymorphism with the outcome of hematopoietic stem-cell transplantation with unrelated donors. Transplantation. 2009;88(10): 1227-1228.
58. Hosseini E, Schwarer AP, Ghasemzadeh M. The impact of HLA-E polymorphisms in graft-versus-host disease following HLA-E matched allogeneic hematopoietic stem cell transplantation. Iran J Allergy Asthma Immunol. 2012;11(1):15-21.
59. Fürst D, Bindja J, Arnold R, et al. HLA-E polymorphisms in hematopoietic stem cell transplantation. Tissue Antigens. 2012;79(4): 287-290.
60. La Nasa G, Littera R, Locatelli F, et al. The human leucocyte antigen-G 14-basepair polymorphism correlates with graft-versus-host disease in unrelated bone marrow transplantation for thalassaemia. Br J Haematol. 2007;139(2):284-288.
61. Boukouaci W, Busson M, Fortier C, et al. Association of HLA-G low expressor genotype with severe acute graft-versus-host disease after sibling bone marrow transplantation. Front Immunol. 2011;2:74.
62. Chiusolo P, Bellesi S, Piccirillo N, et al. The role of HLA-G 14-bp polymorphism in allo-HSCT after short-term course MTX for GvHD prophylaxis. Bone Marrow Transplant. 2012; 47(1):120-124.
63. Bogunia-Kubik K, Lange A. HSP70-hom gene polymorphism in allogeneic hematopoietic stemcell transplant recipients correlates with the development of acute graft-versus-host disease. Transplantation. 2005;79(7):815-820.
64. Ogawa S, Matsubara A, Onizuka M, et al; Japan Marrow Donation Program (JMDP). Exploration of the genetic basis of GVHD by genetic association studies. [Review] Biol Blood Marrow Transplant. 2009;15(1 Suppl):39-41.
65. Rollinger-Holzinger I, Eibl B, Pauly M, et al. LST1: a gene with extensive alternative splicing and immunomodulatory function. J Immunol. 2000;164(6):3169-3176.
66. Morgan GJ, Adamson PJ, Mensah FK, et al. Haplotypes in the tumour necrosis factor region and myeloma. Br J Haematol. 2005;129(3): 358-365.
67. Mulcahy H, O'Rourke KP, Adams C, Molloy MG, O'Gara F. LST1 and NCR3 expression in autoimmune inflammation and in response to IFN-gamma, LPS and microbial infection. Immunogenetics. 2006;57(12):893-903.
68. Dickinson AM, Middleton PG. Beyond the HLA typing age: genetic polymorphisms predicting transplant outcome. [Review] Blood Rev. 2005; 19(6):333-340.
69. Allcock RJ, Windsor L, Gut IG, et al. High- Density SNP genotyping defines 17 distinct haplotypes of the TNF block in the Caucasian population: implications for haplotype tagging. Hum Mutat. 2004;24(6):517-525.
70. Ferrara JL, Levine JE, Reddy P, Holler E. Graftversus- host disease. [Review] Lancet. 2009; 373(9674):1550-1561.
71. Takahashi H, Furukawa T, Hashimoto S, et al. Contribution of TNF-alpha and IL-10 gene polymorphisms to graft-versus-host disease following allo-hematopoietic stem cell transplantation. Bone Marrow Transplant. 2000; 26(12):1317-1323.
72. Schots R, Kaufman L, Van Riet I, et al. Proinflammatory cytokines and their role in the development of major transplant-related complications in the early phase after allogeneic bone marrow transplantation. Leukemia. 2003; 17(6):1150-1156.
73. Marsh SGE, Albert ED, Bodmer WF, et al. An update to HLA nomenclature, 2010. Bone Marrow Transplant. 2010;45(5):846-848.
74. Petersdorf EW, Shuler KB, Longton GM, Spies T, Hansen JA. Population study of allelic diversity in the human MHC class I-related MIC-A gene. Immunogenetics. 1999; 49(7-8):605-612.
75. Askar M, Daghstani J, Thomas D, et al. 16th IHIW: global distribution of extended HLA haplotypes. Int J Immunogenet. 2013;40(1): 31-38.
76. Groh V, Steinle A, Bauer S, Spies T. Recognition of stress-induced MHC molecules by intestinal epithelial gammadelta T cells. Science. 1998; 279(5357):1737-1740.
77. Li P, Morris DL, Willcox BE, Steinle A, Spies T, Strong RK. Complex structure of the activating immunoreceptor NKG2D and its MHC class I-like ligand MICA. Nat Immunol. 2001;2(5):443-451.
78. Tay GK, Witt CS, Christiansen FT, et al. Matching for MHC haplotypes results in improved survival following unrelated bone marrow transplantation. Bone Marrow Transplant. 1995;15(3):381-385.
79. Steinle A, Li P, Morris DL, et al. Interactions of human NKG2D with its ligands MICA, MICB, and homologs of the mouse RAE-1 protein family. Immunogenetics. 2001;53(4):279-287.
80. Ulbrecht M, Couturier A, Martinozzi S, et al. Cell surface expression of HLA-E: interaction with human beta2-microglobulin and allelic differences. Eur J Immunol. 1999;29(2):537-547.
81. Geraghty DE, Koller BH, Orr HT. A human major histocompatibility complex class I gene that encodes a protein with a shortened cytoplasmic segment. Proc Natl Acad Sci USA. 1987;84(24): 9145-9149.
82. Hviid TV, Hylenius S, Rørbye C, Nielsen LG. HLA-G allelic variants are associated with differences in the HLA-G mRNA isoform profile and HLA-G mRNA levels. Immunogenetics. 2003;55(2):63-79.
83. O'Brien M, McCarthy T, Jenkins D, et al. Altered HLA-G transcription in pre-eclampsia is associated with allele specific inheritance: possible role of the HLA-G gene in susceptibility to the disease. Cell Mol Life Sci. 2001;58(12-13): 1943-1949.
84. Hansen JA, Chien JW, Warren EH, Zhao LP, Martin PJ. Defining genetic risk for graft-versushost disease and mortality following allogeneic hematopoietic stem cell transplantation. Curr Opin Hematol. 2010;17(6):483-492.
85. Wellcome Trust Case Control Consortium. Genome-wide association study of 14, 000 cases of seven common diseases and 3, 000 shared controls. Nature. 2007;447(7145):661-678.
86. Sirota M, Schaub MA, Batzoglou S, Robinson WH, Butte AJ. Autoimmune disease classification by inverse association with SNP alleles. PLoS Genet. 2009;5(12):e1000792.
87. Cox N, Nicolae D, Dolan ME, Gamazon E. SNP and CNV Annotation Database. (SCAN). http:// www.scandb.org/newinterface/about.html. Accessed February 2, 2013.
88. Cotsapas C, Hafler DA. Immune-mediated disease genetics: the shared basis of pathogenesis. Trends Immunol. 2013;34(1): 22-26.
89. Bioinformatics. HLA Resources. Haplotype Frequencies. High-Resolution HLA Alleles and Haplotypes in the US Population. 2013. National Marrow Donor Program. http://bioinformatics. nmdp.org/HLA/Haplotype-Frequencies/ Haplotype-Frequencies.aspx. Accessed April 2, 2013.
90. Voight BF, Cotsapas C. Human genetics offers an emerging picture of common pathways and mechanisms in autoimmunity. [Review] Curr Opin Immunol. 2012;24(5): 552-557.
91. Altshuler D, Daly M. Guilt beyond a reasonable doubt. Nat Genet. 2007;39(7):813-815.
92. Cotsapas C, Voight BF, Rossin E, et al; FOCiS Network of Consortia. Pervasive sharing of genetic effects in autoimmune disease. PLoS Genet. 2011;7(8):e1002254.
93. Handsaker RE, Korn JM, Nemesh J, McCarroll SA. Discovery and genotyping of genome structural polymorphism by sequencing on a population scale. Nat Genet. 2011;43(3): 269-276.
94. Reich DE, Lander ES. On the allelic spectrum of human disease. Trends Genet. 2001;17(9): 502-510.
95. Malkki M, Petersdorf EW. Genotyping of single nucleotide polymorphisms by 59 nuclease allelic discrimination. Methods Mol Biol. 2012;882: 173-182.
96. Livak KJ, Marmaro J, Todd JA. Towards fully automated genome-wide polymorphism screening. Nat Genet. 1995;9(4):341-342.
97. Moran D, Morishima S, Malkki M, Petersdorf EW. Identification of the MICA∗070 allele by sequencing and phasing. Hum Immunol. 2013; 74(5):557-561.
98. Vandiedonck C, Taylor MS, Lockstone HE, et al. Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complex. Genome Res. 2011; 21(7):1042-1054.
99. Cookson W, Liang L, Abecasis G, Moffatt M, Lathrop M. Mapping complex disease traits with global gene expression. [Review] Nat Rev Genet. 2009;10(3):184-194.
100. Gregersen PK. Cell type-specific eQTLs in the human immune system. Nat Genet. 2012;44(5): 478-480.
101. Gratwohl A. The EBMT risk score. [Review] Bone Marrow Transplant. 2012;47(6):749-756.