A case-control study reveals immunoregulatory gene haplotypes that influence inhibitor risk in severe haemophilia A

Haemophilia

Volumn 17, Issue 4, 2011, Pages 641-649

  Lozier, J N ^a   Rosenberg, P S ^b   Goedert, J J ^b   Menashe, I ^b  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b NATIONAL CANCER INSTITUTE   (United States)

Author keywords

Factor VIII; Haemophilia A; IL1; IL10; IL12; IL2; Inhibitor

Indexed keywords

BLOOD CLOTTING FACTOR 5 LEIDEN; BLOOD CLOTTING FACTOR 8 INHIBITOR; CYTOKINE; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; INTERLEUKIN 1; INTERLEUKIN 10; INTERLEUKIN 12; INTERLEUKIN 2; PROTHROMBIN; TUMOR NECROSIS FACTOR ALPHA;

ARTICLE; CAUCASIAN; CLINICAL TRIAL (TOPIC); CONTROLLED STUDY; DNA POLYMORPHISM; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HEMOPHILIA A; HUMAN; IMMUNOREGULATION; MAJOR CLINICAL STUDY; MULTICENTER STUDY (TOPIC); PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; BLOOD COAGULATION FACTOR INHIBITORS; CASE-CONTROL STUDIES; GENOTYPE; HAPLOTYPES; HEMOPHILIA A; HUMANS; INTERLEUKINS; POLYMORPHISM, GENETIC; YOUNG ADULT;

EID: 79959494195     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2010.02473.x     Document Type: Article

References (30)

1. Ragni MV, Kessler CM, Lozier JN Clinical Aspects and Therapy of Hemophilia, chapter 125. In: Hoffman R, Benz E, Shattil S, Furie B, Cohen H eds. Hematology, Principles and Practice, (5th Edition) New York: Churchill-Livingstone, 2009: 1911-30.
2. Chorba TL, Holman RC, Clarke MJ, Evatt BL. Effects of HIV infection on age and cause of death for persons with hemophilia A in the United States. Am J Hematol 2001; 66: 229-40.
3. Soucie JM, Nuss R, Evatt B et al., Hemophilia Surveillance System Project Investigators. Mortality among males with hemophilia: relations with source of medical care. Blood 2000; 96: 437-42.
4. Oldenburg J, El-Maarri O, Schwaab R. Inhibitor development in correlation to factor VIII genotypes. Haemophilia 2002; 8(Suppl 2): 23-9.
5. Gill JC. The role of genetics in inhibitor formation. Thromb Haemost 1999; 82: 500-4.
6. Astermark J, Oldenburg J, Pavlova A, Berntorp E, Lefvert AK, MIBS Study Group. 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.
7. Astermark J, Oldenburg J, Carlson J et al. Polymorphisms in the TNFA gene and the risk of inhibitor development in patients with hemophilia A. Blood 2006; 108: 3739-45.
8. Astermark J, Wang X, Oldenburg J, Berntorp E, Lefvert A-K, on behalf of the MIBS Study Group. Polymorphisms in the CTLA-4 gene and inhibitor development in patients with severe hemophilia A. J Thromb Haemost 2007; 5: 263-5.
9. Hay CR, Ollier W, Pepper L et al. HLA class II profile: a weak determinant of factor VIII inhibitor development in hemophilia A. UKHCDO Working Party. Thromb Haemost 1997; 77: 234-7.
10. White GC 2nd, Kempton CL, Grimsley A, Nielson B, Roberts HR. Cellular immune responses in hemophilia: why do inhibitors develop in some, but not all hemophiliacs? J Thromb Haemost 2005; 3: 1676-81.
11. Aledort LM, Dimichele DM. Inhibitors occur more frequently in African-American and Latino haemophiliacs. Haemophilia 1998; 4: 68.
12. Viel KR, Ameri A, Abshire TC et al. Inhibitors of factor VIII in black patients with hemophilia A. N Engl J Med 2009; 360: 1618-27.
13. Lozier JN, Zhang Pei. Mapping of genes that control the antibody response to human FVIII in mice. Blood 2005; 106(suppl 1): 536a.
14. Lozier JN, Tayebi N, Zhang P. Mapping of genes that control the antibody response to human factor IX in mice. Blood 2005; 105: 1029-35.
15. Kurnik K, Bidlingmaier C, During C, Halimeh S, Schobess R, Nowak-Gottl U. Presence of factor V Leiden or prothrombin mutation influence inhibitor development in children with severe hemophilia A. Blood 2008; 112: 96.
16. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21: 263-5.
17. Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA. Score test for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 2002; 70: 425-34.
18. Eskdale J, Kube D, Gallagher G. A second polymorphic dinucleotide repeat in the 5' flanking region of the human IL10 gene. Immunogenetics 1996; 45: 82-3.
19. Gallagher G, Dickensheets H, Eskdale J et al. Cloning, expression and initial characterisation of interleukin-19 (IL-19), a novel homologue of human interleukin-10 (IL-10). Genes Immun 2000; 1: 442-50.
20. Oral HB, Kotenko SV, Yilmaz M et al. Regulation of T cell s and cytokines by the interleukin-10 (IL-10)-family cytokines IL-19, IL-20, IL-22, IL-24 and IL26. Eur J Immunol 2006; 36: 380-8.
21. Bray GL, Kroner BL, Arkin S et al. Loss of high-responder inhibitors in patients with severe hemophilia A and human immunodeficiency virus type 1 infection: a report from the Multi-Center Hemophilia Cohort Study. Am J Hematol 1993; 42: 375-9.
22. Brockman MA, Kwon DS, Tighe DP et al. IL-10 is up-regulated in multiple cell types during viremic HIV infection and reversibly inhibits virus-specific T cells. Blood 2009; 114: 346-56.
23. Shin HD, Winkler C, Stephens JC et al. Genetic restriction of HIV-1 pathogenesis to AIDS by promoter alleles of IL10. Proc Natl Acad Sci USA 2000; 97: 14467-72.
24. Olekysk TK, Shrestha S, Truelove AL et al. Extended IL10 haplotypes and their association with HIV progression to AIDS. Genes Immun 2009; 10: 309-22.
25. Mörmann M, Rieth H, Hua TD et al. Mosaics of gene variations in the Interleukin-10 gene promoter affect interleukin-10 production depending on the stimulation used. Genes Immun 2004; 5: 246-55.
26. Seder RA, Gazzinelli R, Sher A, Paul WE. Interleukin 12 acts directly on CD4+ T cells to enhance priming for interferon-gamma production and diminishes interleukin 4 inhibtion of such priming. Proc Natl Acad Sci USA 1993; 90: 10188-92.
27. Sieling PA, Wang X-H, Gately MK et al. IL-12 regulates T helper Type 1 cytokine response in human infectious disease. J Immunol 1994; 153: 3639-47.
28. D'Andrea A, Aste-Amezaga M, Valiante NM, Ma X, Kubin M, Trinchieri G. Interleukin 10 (IL-10) inhibits human lymphocyte interferon gamma-production by suppressing natural killer cell stimulatory factor/IL-12 synthesis in accessory cells. J Exp Med 1993; 178: 1041-8.
29. Ettinger RA, James E, Kwok WW, Thompson AR, Pratt KP. IL-17 is secreted by T-cell clones isolated following an initial peak inhibitor response to factor VIIII, suggesting Th17 cells play a role in inhibitor development. Blood 2008; 112: 96-97a.
30. Astermark J, Schwarz J, Donfield SM et al. Genetic Factors Associated with Inhibitor Development in Hemophilia Ánitial Results From the Hemophilia Inhibitor Genetics Study (HIGS) Combined Cohort. Blood 2009; 114: 217.