Impact of polymorphisms of the major histocompatibility complex class II, interleukin-10, tumor necrosis factor-α and cytotoxic T-lymphocyte antigen-4 genes on inhibitor development in severe hemophilia A

Journal of Thrombosis and Haemostasis

Volumn 7, Issue 12, 2009, Pages 2006-2015

  Pavlova, A ^a   Delev, D ^a   Lacroix Desmazes, S ^b   Schwaab, R ^a   Mende, M ^c   Fimmers, R ^c   Astermark, J ^d   Oldenburg, J ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b CENTRE DE RECHERCHE DES CORDELIERS   (France)

^c UNIVERSITY OF BONN   (Germany)

^d LUND UNIVERSITY HOSPITAL   (Sweden)

Author keywords

CTLA 4; Hemophilia A; HLA; IL 10; Inhibitors; TNF

Indexed keywords

AUTOANTIBODY; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; CYTOTOXIC T-LYMPHOCYTE ANTIGEN 4; HLA DQ ANTIGEN; HLA DQB1 ANTIGEN; HLA DR ANTIGEN; HLA DRB1*15 ANTIGEN; HLA-DRB1*15 ANTIGEN; INTERLEUKIN 10; LEUKOCYTE ANTIGEN; TUMOR NECROSIS FACTOR ALPHA;

ARTICLE; BIOSYNTHESIS; GENE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETICS; HEMOPHILIA A; HUMAN; IMMUNOLOGY;

ANTIGENS, CD; AUTOANTIBODIES; GENE FREQUENCY; GENES, MHC CLASS II; HEMOPHILIA A; HLA-DQ ANTIGENS; HLA-DR ANTIGENS; HUMANS; INTERLEUKIN-10; POLYMORPHISM, GENETIC; TUMOR NECROSIS FACTOR-ALPHA;

EID: 77449101167     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2009.03636.x     Document Type: Article

References (38)

1. Wight J, Paisley S. The epidemiology of inhibitors in hemophilia A: a systematic review. Haemophilia 2003; 9: 418-35.
2. Ananyeva NM, Lacroix-Desmazes S, Hauser CA, Shima M, Ovanesov MV, Khrenov AV, Saenko EL. Inhibitors in hemophilia A: mechanisms of inhibition, management and perspectives. Blood Coagul Fibrinolysis 2004; 15: 109-24.
3. Oldenburg J, Schroder J, Brackmann HH, Muller-Reible C, Schwaab R, Tuddenham E. Environmental and genetic factors influencing inhibitor development. Semin Hematol 2004; 41 (Suppl. 1): 82-8.
4. Gouw SC, Van Den Berg HM, Le Cessie S, Van Der Bom JG. Treatment characteristics and the risk of inhibitor development: a multicenter cohort study among previously untreated patients with severe hemophilia A. J Thromb Haemost 2007; 5: 1383-90.
5. Gouw SC, Van Der Bom JG, Auerswald G, Ettinghausen CE, Tedgård U, Van Den Berg HM. Recombinant versus plasma-derived factor VIII products and the development of inhibitors in previously untreated patients with severe hemophilia A: the CANAL cohort study. Blood 2007; 109: 4693-7.
6. Goudemand J, Rothschild C, Demiguel V, Lambert T, Chambost H, Borel-Derlon A, Claeyssens S, Laurian Y, Calvez T. FVIII-LFB and recombinant FVIII study groups. FVIII-LFB and recombinant FVIII study groups. Influence of the type of factor VIII concentrate on the incidence of factor VIII inhibitors in previously untreated patients with severe hemophilia A. Blood 2006; 107: 46-51.
7. Schwaab R, Brackmann HH, Meyer C, Seehafer J, Kirchgesser M, Haack A, Olek K, Tuddenham EG, Oldenburg J. Haemophilia A: mutation type determinates risk of inhibitor formation. Thromb Haemost 1995; 74: 1402-6.
8. Oldenburg J, El-Maarri O, Schwaab R. Inhibitor development in correlation of factor VIII genotypes. Haemophilia 2002; 8 (Suppl. 2): 23-9.
9. Hay CR, Ollier W, Pepper L, Cumming A, Keeney S, Goodeve AC, Colvin BT, Hill FG, Preston FE, Peake IR. HLA class II profile: a weak determinant of factor VIII inhibitor development in severe haemophilia A. UKHCDO Inhibitor Working Party. Thromb Haemost 1997; 77: 234-7.
10. Oldenburg J, Picard JK, Schwaab R, Brackmann HH, Tuddenham EG, Simpson E. HLA genotype of patients with severe haemophilia A due to intron 22 inversion with and without inhibitors of factor VIII. Thromb Haemost 1997; 77: 238-42.
11. Astermark J, Oldenburg J, Pavlova A, Berntorp E, Lefvert AK. Polymorphisms in the IL10 but not in the IL1beta and IL4 genes are associated with inhibitor development in patients with hemophilia A. Blood 2006; 107: 3167-72.
12. Astermark J, Oldenburg J, Carlson J, Pavlova A, Kavakli K, Berntorp E, Lefvert AK. Polymorphisms in the TNFA gene and the risk of inhibitor development in patients with hemophilia A. Blood 2006; 108: 3739-45.
13. Astermark J, Wang X, Oldenburg J, Berntorp E, Lefvert AK. Polymorphisms in the CTLA-4 gene and inhibitor development in patients with severe hemophilia A. J Thromb Haemost 2007; 5: 263-5.
14. Wilson AG, Symons JA, McDowell TL, McDevitt HO, Duff GW. Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation. Proc Natl Acad Sci USA 1997; 94: 3195-9.
15. White GC 2nd, Rosendaal F, Aledort LM, Lusher JM, Rothschild C, Ingerslev J. Factor VIII and Factor IX Subcommittee. Definitions in hemophilia: recommendation of the Scientific Subcommittee on Factor VIII and Factor IX of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 2001; 85: 560-74.
16. Verbruggen B, Novakova I, Wessels H, Boezeman J, Van Den Berg M, Mauser-Bunschoten E. The Nijmegen modification of the Bethesda assay for factor VIII:C inhibitors: improved specificity and reliability. Thromb Haemost 1995; 73: 247-51.
17. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
18. Rossetti LC, Radic CP, Larripa IB, De Brasi CD. Genotyping the hemophilia inversion hotspot by use of inverse PCR. Clin Chem 2005; 51: 1154-8.
19. Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002; 99: 168-74.
20. Kube D, Schmidt D, Mörmann M, Uhlemann AC, Tomiuk J, Tesch H, Kremsner PG. Semiautomated and simultaneous analysis of the interleukin-10 gene microsatellites IL-10G and IL-10R by fluorescence-based polymerase chain reaction reveals significant differences in allele distributions between Caucasians (Germany) and Africans (Gabon). Eur Cytokine Netw 2001; 12: 537-44.
21. Holm S. A simple sequentially rejective multiple test procedure. Scand J Stat 1979; 6: 65-70.
22. Yee LJ, Tang J, Gibson AW, Kimberly R, Van Leeuwen DJ, Kaslow RA. Interleukin 10 polymorphisms as predictors of sustained response in antiviral therapy for chronic hepatitis C infection. Hepatology 2001; 33: 708-12.
23. Rees LE, Wood NA, Gillespie KM, Lai KN, Gaston K, Mathieson PW. The interleukin-10-1082G/A polymorphism: allele frequency in different populations and functional significance. Cell Mol Life Sci 2002; 59: 560-9.
24. Turner DM, Williams DM, Sankaran D, Lazarus M, Sinnott PJ, Hutchinson IV. An investigation of polymorphism in the interleukin-10 gene promoter. Eur J Immunogenet 1997; 24: 1-8.
25. Lacroix-Desmazes S, Navarrete AM, André S, Bayry J, Kaveri SV, Dasgupta S. Dynamics of factor VIII interactions determine its immunologic fate in hemophilia A. Blood. 2008; 15: 240-9.
26. Oldenburg J, Pavlova A. Genetic risk factors for inhibitors to factors VIII and IX. Haemophilia 2006; 12 (Suppl. 6): 15-22.
27. Middleton D, Menchaca L, Rood H, Komerofsky R. New allele frequency database: Tissue Antigens 2003; 61: 403-7.
28. Hajeer AH, Hutchinson IV. TNF-alpha gene polymorphism: clinical and biological implications. Microsc Res Tech 2000; 50: 216-28.
29. Field M. Tumour necrosis factor polymorphisms in rheumatic diseases. Q J Med 2001; 94: 237-46.
30. Hajeer AH, Hutchinson IV. Influence of TNF-α gene polymorphisms on TNF-α production and disease. Hum Immunol 2001; 62: 1191-9.
31. Beutler BA. The role of tumor necrosis factor in health and disease. J Rheumatol 1999; 26 (Suppl. 57): 16-21.
32. Poli F, Boschiero L, Giannoni F, Tonini M, Scalamogna M, Ancona G, Sirchia G. Tumour necrosis factor-alpha gene polymorphism: implications in kidney transplantation. Cytokine 2000; 12: 1778-83.
33. Eskdale J, Gallagher G, Verweij CL, Keijsers V, Westendorp RG, Huizinga TW. Interleukin 10 secretion in relation to human IL-10 locus haplotypes. Proc Natl Acad Sci USA 1998; 95: 9465-70.
34. Eskdale J, Keijsers V, Huizinga T, Gallagher G. Microsatellite alleles and single nucleotide polymorphisms (SNP) combine to form four major haplotype families at the human interleukin-10 (IL-10) locus. Genes Immun 1999; 1: 151-5.
35. Crawley E, Kay R, Sillibourne J, Patel P, Hutchinson I, Woo P. Polymorphic haplotypes of the interleukin-10 5′ flanking region determine variable interleukin-10 transcription and are associated with particular phenotypes of juvenile rheumatoid arthritis. Arthritis Rheum 1999; 42: 1101-8.
36. Djukanovic R. The role of co-stimulation in airway inflammation. Clin Exp Allergy 2000; 30: S46-50.
37. Hausl C, Ahmad RU, Schwarz HP, Muchitsch EM, Turecek PL, Dorner F, Reipert BM. Preventing restimulation of memory B cells in hemophilia A: a potential new strategy for the treatment of antibody-dependent immune disorders. Blood 2004; 104: 115-22.
38. Pavlova A, Diaz-Lacava A, Zeitler H, Satoguina J, Niemann B, Krause M, Scharrer I, Hoerauf A, Wienker T, Oldenburg J. Increased frequency of the CTLA-4 49 A/G polymorphism in patients with acquired haemophilia A compared to healthy controls. Haemophilia 2008; 14: 355-60.