Genetic associations in classical Hodgkin lymphoma: A systematic review and insights into susceptibility mechanisms

Cancer Epidemiology Biomarkers and Prevention

Volumn 23, Issue 12, 2014, Pages 2737-2747

  Kushekhar, Kushi ^a   Van Den Berg, Anke ^a   Nolte, Ilja ^a   Hepkema, Bouke ^a   Visser, Lydia ^a   Diepstra, Arjan ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ANTINEOPLASTIC AGENT; FC RECEPTOR; GLUCURONOSYLTRANSFERASE; STAT3 PROTEIN; STAT6 PROTEIN;

ALLELE; CANCER PROGNOSIS; CANCER RADIOTHERAPY; CANCER RISK; CANCER SUSCEPTIBILITY; CLASSICAL HODGKIN LYMPHOMA; DRUG RESPONSE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOME ANALYSIS; HLA SYSTEM; HUMAN; MICROSATELLITE MARKER; RADIATION RESPONSE; REVIEW; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMATIC REVIEW; DISEASE PREDISPOSITION; GENETICS; HODGKIN DISEASE; PATHOLOGY; PROGNOSIS;

DISEASE SUSCEPTIBILITY; HODGKIN DISEASE; HUMANS; PROGNOSIS;

EID: 84919400350     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: 10.1158/1055-9965.EPI-14-0683     Document Type: Review

References (77)

1. Küppers R., Engert A, Hansmann M. Hodgkin lymphoma. Engert A, Horning SJ, editors. J Clin Invest. Berlin, Heidelberg: American Society for Clinical Investigation; 2012; 122: 3439-47.
2. Sabattini E, Bacci F, Sagramoso C., Pileri SA. WHO classification of tumours of haematopoietic and lymphoid tissues in 2008: an overview. Pathologica 2010; 102: 83-7.
3. Elgui de Oliveira D, Bacchi MM, Abreu ES, Niero-Melo L, Bacchi CE. Hodgkin disease in adult and juvenile groups from two different geographic regions in Brazil: characterization of clinicopathologic aspects and relationship with Epstein-Barr virus infection. Am J Clin Pathol 2002; 118: 25-30.
4. Araujo I, Bittencourt AL, Barbosa H.S., Netto EM, Mendonça N, Foss H.D., et al. The high frequency of EBV infection in pediatric Hodgkin lymphoma is related to the classical type in Bahia, Brazil. Virchows Arch 2006; 449: 315-9.
5. Armstrong AA, Alexander FE, Cartwright R, Angus B., Krajewski AS, Wright DH, et al. Epstein-Barr virus and Hodgkin's disease: further evidence for the three disease hypothesis. Leukemia 1998; 12: 1272-6.
6. Goldin LR, Pfeiffer RM, Gridley G, Gail M.H., Li X., Mellemkjaer L, et al. Familial aggregation of Hodgkin lymphoma and related tumors. Cancer 2004; 100: 1902-8.
7. Mack TM, Cozen W, Shibata D.K., Weiss LM, Nathwani BN, Hernandez AM, et al Concordance for Hodgkin's disease in identical twins suggesting genetic susceptibility to the young-adult form of the disease. N Engl J Med 1995; 332: 413-8.
8. Shugart YY, Hemminki K, Vaittinen P., Kingman A, Dong C. A genetic study of Hodgkin's lymphoma: an estimate of heritability and anticipation based on the familial cancer database in Sweden. Hum Genet 2000; 106: 553-6.
9. Diepstra A, Niens M, te Meerman GJ, Poppema S, van den Berg A. Genetic susceptibility to Hodgkin's lymphoma associated with the human leukocyte antigen region. Eur J Haematol Suppl 2005; 34-41.
10. Goldin LR, McMaster ML, Ter-Minassian M, Saddlemire S., Harmsen B, Lalonde G, et al A genome screen of families at high risk for Hodgkin lymphoma: evidence for a susceptibility gene on chromosome 4. J Med Genet 2005; 42: 595-601.
11. Liang XS, Caporaso N, McMaster M Lou, Ng D, Landgren O, Yeager M, et al. Common genetic variants in candidate genes and risk of familial lymphoid malignancies. Br J Haematol 2009; 146: 418-23.
12. Lawrie A, Cezard T, Culligan D.J., Vickers MA. Exome sequencing and linkage analysis implicates two candidate genes on chromosome 3p in familial hodgkin lymphoma [abstract]. In: Proceedings of the ASH Annual Meeting and Exposition; 2012. p. 120.
13. Klimm B, Diehl V, Pfistner B., Engert A. Current treatment strategies of the German Hodgkin Study Group (GHSG). Eur J Haematol Suppl 2005; 125-34.
14. The International HapMap Consortium. The International HapMap Project. Nature 2003; 426: 789-96.
15. Urayama KY, Jarrett RF, Hjalgrim H, Diepstra A., Kamatani Y, Chabrier A, et al Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups. J Natl Cancer Inst 2012; 104: 240-53.
16. Amiel J. Study of the leukocyte phenotypes in Hodgkin's disease. Copenhagen, Denmark: Histocompat Testing Ed Teraski PI, Munks-gaard; 1967; 79-81.
17. Terasaki PI, McClelland JD Microdroplet assay of human serum cytotoxins. Nature 1964; 204: 998-1000.
18. Welsh K, Bunce M. Molecular typing for the MHC with PCR-SSP. Rev Immunogenet 1999; 1: 157-76.
19. Marsh SGE, Albert ED, Bodmer W.F., Bontrop RE, Dupont B, Erlich HA, et al Nomenclature for factors of the HLA system, 2010. Tissue Antigens 2010; 75: 291-455.
20. Chen KY, Liu J, Ren EC Structural and functional distinctiveness of HLA-A2 allelic variants. Immunol Res 2012; 53: 182-90.
21. Maiers M, Gragert L, Klitz W. High-resolution HLA alleles and haplotypes in the United States population. Hum Immunol 2007; 68:779-88.
22. Price P, Witt C, Allcock R., Sayer D, Garlepp M, Kok C.C., et al. The genetic basis forthe association of the 8.1 ancestral haplotype (A1, B8, DR3) with multiple immunopathological diseases. Immunol Rev 1999; 167: 257-74.
23. Diepstra A, Niens M, Vellenga E., van Imhoff GW, Nolte IM, Schaapveld M, et al. Association with HLA class I in Epstein-Barr-virus-positive and with HLA class III in Epstein-Barr-virus-negative Hodgkin's lymphoma. Lancet 2005; 365: 2216-24.
24. + Hodgkin lymphoma. Blood 2007; 110:3310-5.
25. Hjalgrim H, Rostgaard K, Johnson PCD, Lake A, Shield L., Little A-M, et al. HLA-A alleles and infectious mononucleosis suggest a critical role for cytotoxic T-cell response in EBV-related Hodgkin lymphoma. Proc Natl Acad Sci U S A 2010; 107: 6400-5.
26. Huang X, Kushekhar K, Nolte I., Kooistra W, Visser L, Bouwman I., et al. HLA associations in classical Hodgkin lymphoma: EBV status matters. PLoS ONE 2012; 7:e39986.
27. ∗02:07 is a protective allele for EBV negative and a susceptibility allele for EBV positive classical Hodgkin lymphoma in China. PLoS ONE 2012; 7.
28. Hsu W-L, Tse K-P, Liang S, Chien Y-C, Su W-H, Yu KJ, et al Evaluation of human leukocyte antigen-A (HLA-A), other non-HLA markers on chromosome 6p21 and risk of nasopharyngeal carcinoma. PLoS ONE 2012; 7:e42767.
29. Klitz W, Aldrich CL, Fildes N, Horning S.J., Begovich AB. Localization of predisposition to Hodgkin disease in the HLA class II region. Am J Hum Genet 1994; 54: 497-505.
30. Moutsianas L, Enciso-Mora V, Ma Y.P., Leslie S, Dilthey A, Broderick P, et al. Multiple Hodgkin lymphoma-associated loci within the HLA region at chromosome 6p21.3. Blood 2011; 118: 670-4.
31. Taylor GM, Gokhale DA, Crowther D, Woll P.J., Harris M., Ryder D, et al. Further investigation of the role of HLA-DPB1 in adult Hodgkin's disease (HD) suggests an influence on susceptibility to different HD subtypes. Br J Cancer 1999; 80: 1405-11.
32. ∗0301 in Hodgkin's disease suggests that susceptibility is HVR-sequence and subtype-associated. Leukemia 1996; 10: 854-9.
33. Oza AM, Tonks S, Lim J., Fleetwood MA, Lister TA, Bodmer JG. A clinical and epidemiological study of human leukocyte antigen-DPB alleles in Hodgkin's disease. Cancer Res 1994; 54: 5101-5.
34. Ghesquieres H, Dogan A, Link BK, Maurer M.J., Cunningham JM, Novak AJ, et al. FCGR2A and FCGR3A polymorphisms in classical Hodgkin lymphoma by Epstein-Barr virus status. Leuk Lymphoma 2013; 54:2571-3.
35. Broderick P, Cunningham D, Vijayakrishnan J., Cooke R, Ashworth A, Swerdlow A., et al. IRF4 polymorphism rs872071 and risk of Hodgkin lymphoma. Br J Haematol 2010; 148: 413-5.
36. Butterbach K, Beckmann L, de Sanjosé S, Benavente Y, Becker N, Foretova L, et al. Association of JAK-STAT pathway related genes with lymphoma risk: results of a European case-control study (EpiLymph). Br J Haematol 2011; 153: 318-33.
37. Monroy CM, Cortes AC, Lopez MS, D'Amelio AM, Etzel CJ, Younes A, et al. Hodgkin disease risk: role of genetic polymorphisms and gene-gene interactions in inflammation pathway genes. Mol Carcinog 2011; 50: 36-46.
38. Cozen W, Gill PS, Salam M.T., Nieters A., Masood R, Cockburn MG, et al Interleukin-2, interleukin-12, and interferon-gamma levels and risk of young adult Hodgkin lymphoma. Blood 2008; 111: 3377-82.
39. Nieters A, Beckmann L, Deeg E., Becker N. Gene polymorphisms in Toll-like receptors, interleukin-10, and interleukin-10 receptor alpha and lymphoma risk. Genes Immun 2006; 7: 615-24.
40. Chang ET, Birmann BM, Kasperzyk J.L., Conti D V, Kraft P, Ambinder R.F., et al. Polymorphic variation in NFKB1 and other aspirin-related genes and risk of Hodgkin lymphoma. Cancer Epidemiol Biomarkers Prev 2009; 18: 976-86.
41. Monroy CM, Cortes AC, Lopez M, Rourke E., Etzel CJ, Younes A, et al. Hodgkin lymphoma risk: role of genetic polymorphisms and gene-gene interactions in DNA repair pathways. Mol Carcinog 2011; 50: 825-34.
42. Deligezer U, Akisik EE, Yaman F, Erten N., Dalay N. MTHFR C677 T gene polymorphism in lymphoproliferative diseases. J Clin Lab Anal 2006; 20: 37-41.
43. Mhaidat NM, Alshogran OY, Khabour O.F., Alzoubi KH, Matalka II, Haddadin WJ, et al Multi-drug resistance 1 genetic polymorphism and prediction of chemotherapy response in Hodgkin's Lymphoma. J Exp Clin Cancer Res 2011; 30:68.
44. Enciso-Mora V., Broderick P, Ma Y., Jarrett RF, Hjalgrim H, Hemminki K, et al A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3). Nat Genet 2010; 42: 1126-30.
45. Cozen W, Li D, Best T., Van Den Berg DJ, Gourraud P-A, Cortessis VK, et al. A genome-wide meta-analysis of nodular sclerosing Hodgkin lymphoma identifies risk loci at 6p21.32. Blood 2012; 119: 469-75.
46. Frampton M, da Silva Filho MI, Broderick P, Thomsen H, Forsti A, Vijayakrishnan J, et al. Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma. Nat Commun 2013; 4:2549.
47. Cozen W, Timofeeva MN, Li D, Diepstra A., Hazelett D, Delahaye-Sourdeix M, et al. A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus. Nat Commun 2014; 5:3856.
48. Best T, Li D, Skol A.D., Kirchhoff T., Jackson SA, Yasui Y, et al. Variants at 6q21 implicate PRDM1 in the etiology of therapy-nduced second malignancies after Hodgkin's lymphoma. Nat Med 2011; 17: 941-3.
49. Steidl C, Connors JM, Gascoyne RD Molecular pathogenesis of Hodgkin's lymphoma: increasing evidence of the importance of the microenvironment. J Clin Oncol 2011; 29: 1812-26.
50. Greaves P, Clear A, Owen A., Iqbal S, Lee A, Matthews J., et al. Defining characteristics of classical Hodgkin lymphoma microenvironment T-helper cells. Blood 2013; 122: 2856-63.
51. Vladich FD, Brazille SM, Stern D, Peck M.L., Ghittoni R., Vercelli D. IL-13 R130Q, a common variant associated with allergy and asthma, enhances effector mechanisms essential for human allergic inflammation. J Clin Invest 2005; 115: 747-54.
52. Hershey GK, Friedrich MF, Esswein L.A., Thomas ML, Chatila TA. The association of atopy with a gain-of-function mutation in the alpha subunit of the interleukin-4 receptor. N Engl J Med 1997; 337: 1720-5.
53. Westra H-J, Peters M.J., Esko T., Yaghootkar H, Schurmann C, Kettunen J., et al. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat Genet 2013; 45: 1238-43.
54. Wang Y, Spitz MR, Zhu Y, Dong Q., Shete S, Wu X. From genotype to phenotype: correlating XRCC1 polymorphisms with mutagen sensitivity. DNA Repair (Amst) 2003; 2: 901-8.
55. Zhao H, Wang L-E, Li D, Chamberlain R.M., Sturgis EM, Wei Q. Genotypes and haplotypes of ERCC1 and ERCC2/XPD genes predict levels of benzo[a]pyrene diol epoxide-induced DNA adducts in cultured primary lymphocytes from healthy individuals: a genotype-phe-notype correlation analysis. Carcinogenesis 2008; 29: 1560-6.
56. Frosst P, Blom HJ, Milos R, Goyette P., Sheppard CA, Matthews RG, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995; 10: 111-3.
57. Bagley PJ, Selhub J. A common mutation in the methylenetetrahy-drofolate reductase gene is associated with an accumulation of for-mylated tetrahydrofolates in red blood cells. Proc Natl Acad Sci U S A 1998; 95: 13217-20.
58. Zhu Y, Yang H, Chen Q., Lin J, Grossman HB, Dinney C.P., et al. Modulation of DNA damage/DNA repair capacity by XPC polymorphisms. DNA Repair (Amst) 2008; 7: 141-8.
59. Misko IS, Schmidt C, Honeyman M., Soszynski TD, Sculley TB, Burrows SR, et al Failure of Epstein-Barr virus-specific cytotoxic T lymphocytes to lyse B cells transformed with the B95-8 strain is mapped to an epitope that associates with the HLA-B8 antigen. Clin Exp Immunol 1992; 87: 65-70.
60. Lee SP, Thomas WA, Murray R.J., Khanim F., Kaur S, Young LS, et al HLA A2.1-restricted cytotoxic T cells recognizing a range of Epstein - Barr virus isolates through a defined epitope in latent membrane protein LMP2. J Virol 1993; 67: 7428-35.
61. Marescotti D, Destro F, Baldisserotto A., Marastoni M, Coppotelli G, Masucci M., et al. Characterization of an human leucocyte antigen A2-restricted Epstein-Barr virus nuclear antigen-1-derived cytotoxic T-lymphocyte epitope. Immunology 2010; 129: 386-95.
62. Bruhns P, Iannascoli B, England P., Mancardi DA, Fernandez N, Jorieux S, et al Specificity and affinity of human Fcgamma receptors and their polymorphic variants for human IgG subclasses. Blood 2009; 113: 3716-25.
63. Diamantopoulos PT, Kalotychou V, Polonyfi K., Sofotasiou M, Anastasopoulou A, Galanopoulos A, et al Correlation of Fc-g RIIA polymorphisms with latent Epstein-Barr virus infection and latent membrane protein 1 expression in patients with low grade B-cell lymphomas. Leuk Lymphoma 2013; 54: 2030-4.
64. Liu Y, Sattarzadeh A, Diepstra A., Visser L, van den Berg A. The microenvironment in classical Hodgkin lymphoma: an actively shaped and essential tumor component. Semin Cancer Biol 2014; 24: 15-22.
65. Nelms K, Keegan AD, Zamorano J, Ryan J.J., Paul WE. The IL-4 receptor: signaling mechanisms and biologic functions. Annu Rev Immunol 1999; 17: 701-38.
66. Gasche C, Grundtner P, Zwirn P., Reinisch W, Shaw SH, Zdanov A, et al Novel variants of the IL-10 receptor 1 affect inhibition of monocyte TNF-alpha production. J Immunol 2003; 170: 5578-82.
67. Schott E, Witt H, Neumann K., Taube S, Oh D-Y, Schreier E, et al AToll-like receptor 7 single nucleotide polymorphism protects from advanced inflammation and fibrosis in male patients with chronic HCV-infection. J Hepatol 2007; 47: 203-11.
68. Ribrag V, Koscielny S, Casasnovas O, Cazeneuve C, Brice P, Morschhauser F, et al. Pharmacogenetic study in Hodgkin lymphomas reveals the impact of UGT1A1 polymorphisms on patient prognosis. Blood 2009; 113: 3307-13.
69. Yri OE, Ekstrøm PO, Hilden V., Gaudernack G, Liestøl K, Smeland E.B., et al. Polymorphisms in genes encoding interleukin-10 and drug metabolizing enzymes GSTP1, GSTT1, GSTA1 and UGT1A1 influence risk and outcome in Hodgkin lymphoma. Leuk Lymphoma 2012; 53: 1934-44.
70. Ando Y, Saka H, Ando M., Sawa T, Muro K, Ueoka H., et al. Polymorphisms of UDP-glucuronosyltransferase gene and irinote-can toxicity: a pharmacogenetic analysis. Cancer Res 2000; 60: 6921-6.
71. Navarro A, Munoz C, Gaya A, Díaz-Beyà M, Gel B, Tejero R, et al. MiR-SNPsas markers of toxicity and clinical outcome in Hodgkin lymphoma patients. PLoS ONE 2013; 8:e64716.
72. Mertens AC, Mitby PA, Radloff G, Jones I.M., Perentesis J., Kiffmeyer WR, et al. XRCC1 and glutathione-S-transferase gene polymorphisms and susceptibility to radiotherapy-related malignancies in survivors of Hodgkin disease. Cancer 2004; 101: 1463-72.
73. Behrens C, Travis LB, Wistuba I.I., Davis S., Maitra A, Clarke EA, et al Molecular changes in second primary lung and breast cancers after therapy for Hodgkin's disease. Cancer Epidemiol Biomarkers Prev 2000; 9: 1027-35.
74. Jona A, Szodoray P, Illes A. Immunologic pathomechanism of Hodgkin's lymphoma. Exp Hematol 2013; 41: 995-1004.
75. Andrews A-L, Holloway J.W., Holgate ST, Davies DE. IL-4 receptor alpha is an important modulator of IL-4 and IL-13 receptor binding: implications for the development of therapeutic targets. J Immunol 2006; 176: 7456-61.
76. Liu Y, Razak FRA, Terpstra M, Chan F.C., Saber A., Nijland M, et al. The mutational landscape of Hodgkin lymphoma cell lines determined by whole exome sequencing. Leukemia 2014 Jun 20. doi:10.1038/ leu.2014.201. [Epub ahead of print].
77. Venkataraman G, Mirza MK, Eichenauer D.A., Diehl V. Current status of prognostication in classical Hodgkin lymphoma. Br J Haematol 2014; 165:287-99.