Genetics of liver disease: Immunogenetics and disease pathogenesis

Gut

Volumn 53, Issue 4, 2004, Pages 599-608

  Donaldson, P T ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; CYTOKINE; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; HLA ANTIGEN; HLA ANTIGEN CLASS 1; HLA ANTIGEN CLASS 2; INTERLEUKIN 1BETA; MAJOR HISTOCOMPATIBILITY ANTIGEN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; NUCLEOTIDE BINDING PROTEIN; TUMOR NECROSIS FACTOR ALPHA; VIRUS PROTEIN; VIRUS RNA;

AUTOIMMUNE DISEASE; CARD15 GENE; CROHN DISEASE; DISEASE ASSOCIATION; ENTERITIS; GENE; GENE MUTATION; GENETIC DISORDER; GENETIC LINKAGE; GENETIC POLYMORPHISM; HAPLOTYPE; HEPATITIS A VIRUS; HEPATITIS B VIRUS; HEPATITIS C VIRUS; HLA SYSTEM; HUMAN; IMMUNOGENETICS; LIVER DISEASE; MXA GENE; OAS 1 GENE; PATHOGENESIS; PKR GENE; PRIORITY JOURNAL; REVIEW; VIRUS HEPATITIS; VIRUS INFECTION;

AUTOIMMUNE DISEASES; GENES, MHC CLASS II; GENETIC PREDISPOSITION TO DISEASE; HEPATITIS C; HUMANS; LIVER DISEASES;

EID: 1642318782     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.2003.031732     Document Type: Review

References (46)

1. Emery J, Hayflick S. The challenge of integrating genetic medicine into primary care. Br Med Bull 2001;322:1027-30.
2. Jones S. The language of the genes. London: Harper Collins, 2000.
3. Haines JL, Pericak-Vance MA. Overview of mapping common and genetically complex disease genes. In: Haines JL, Pericak-Vance MA, eds. Approaches to gene mapping in complex diseases. New York: John Wiley and Sons, 1998:1-16.
4. Jones DE, Watt FE, Metcalf JV, et al. Familial primary biliary cirrhosis reassessed: a geographically-based population study. J Hepatol 1999;30:402-7.
5. Strachan T, Read AP. Complex diseases: theory and results. In: Strachan T, Read AP, eds. Human molecular genetics. London: Wiley-Liss, 1999:445-63.
6. Ahmed T, Satsangi J, McGovern D, et al. The genetics of inflammatory bowel disease. Aliment Pharmacol Ther 2001;15:731-48.
7. Raffel EJ, Rotter JI. Type 1 diabetes. In: King RA, Rotter JI, Motulsky AG, eds. The genetic basis of common diseases. Oxford: Oxford University Press, 2002:431-56.
8. Ueda H, Howson JMM, Espasito L, et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003;423:506-11.
9. Cuthbert AP, Fisher SA, Muddasser MM, et al. The contribution of NOD2 gene mutations to the risk and site of inflammatory bowel disease. Gastroenterology 2002;122:867-74.
10. Nepom GT. HLA and type 1 diabetes. In: Warrens A, Lechler R, eds. HLA in health and disease. London: Academic Press, 2000:231-7.
11. Colhaun H, McKeigue PM, Smith GD. Problems of reporting genetic associations with complex outcomes. Lancer 2003;361:865-72.
12. Bataller R, North KE, Brenner DA. Genetic polymorphisms and the progression of liver fibrosis: A critical appraisal. Hepatology 2003;37:493-503.
13. Anonymous. Freely associating. Nat Genet 1999;22:1-2.
14. Jones DEJ, Donaldson PT. Genetic foctors in the pathogenesis of primary biliary cirrhosis. Clin Liver Dis 2003;7:841-64.
15. Shimoda S, Nakamura M, Ishibashi H, et al. HLA DRB4*010-restricted immunodominant T cell autoepitope of pyruvate dehydrogease complex in primary biliary cirrhosis: Evidence of molecular mimicry in human autoimmune diseases. J Exp Med 1995;181:1835-45.
16. Donaldson PT, Norris S. Immunogenetics in PSC. Balliere Best Pract Res Clin Gastroenterol 2001;15:611-27.
17. Donaldson PT, Norris S. Evaluation of the role of MHC class II alleles, haplotypes and selected amino acid sequences in primary sclerosing cholangitis. Autoimmunity 2002;35:555-64.
18. Donaldson PT. Genetics in autoimmune hepatitis. Semin Liver Dis 2002;22:353-63.
19. Norris S, Kondeatis E, Collins R, et al. Mapping MHC-encoded susceptibility and resistance in primary sclerosing cholangitis: The role of MICA polymorphism. Gastroenterology 2001;120:1475-82.
20. Groh V, Bahram S, Bauer S, et al. Cell stress regulated human major histocompatibility complex class I gene-regulated in gastrointestinal epithelium. Proc Natl Acad Sci USA 1996;93:12445-50.
21. Bauer S, Groh V, Wu J, et al. Activation of NK cells and T cells by NKG2D, a receptor for stress inducable MICA. Science 1999;285:727-9.
22. Norris S, Doherty DG, McEntee G, et al. Natural T cells in the human liver: cytotoxic lymphocytes with dual T cell and natural killer cell phenotype and function are phenotypically heterogeneous and include Vα24JαQ and γδ T cell receptor bearing cells. Hum Immunol 1999;60:20-31.
23. Martins EBG, Graham AK, Chapman RW, et al. Elevation of γδ T lymphocytes in peripheral blood and livers of patients with primary sclerosing cholangitis and other autoimmune disease. Hepatology 1996;23:988-99.
24. Hata K, van Thiel DH, Herberman RB, et al. Phenotypic and functional characteristics of lymphocytes isolated from liver biopsy specimens from patients with active liver disease. Hepatology 1992;15:816-23.
25. Pando M, Lariba J, Fernadez GC, et al. Paediatric and adult forms of type 1 autoimmune hepatitis in Argentina: Evidence for differential genetic predisposition. Hepatology 1999;30:1374-80.
26. Seki T, Ota M, Furuta S, et al. HLA class II molecules and autoimmune hepatitis susceptibility in Japanese patients. Gastroenterology 1992;103:1041-7.
27. Fainboim L, Velasco MCC, Marcos CY, et al. Protracted, but not acute, hepatitis A virus infection is strongly associated with HLA-DRB1*1301, a marker for paediatric autoimmune hepatitis. Hepatology 2001;33:1512-17.
28. Xu L, Shen Z, Gou L, et al. Does a betaretrovirus infection trigger primary biliary cirrhosis? Proc Natl Acad Sci USA 2003;100:8454-9.
29. Thursz MR, Kwiatkowsky D, Allsopp CEM, et al. Association between an MHV class II allele and clearance of hepatitis B virus in the Gambia. N Engl J Med 1995;332:1065-9.
30. Alric L, Fort M, Izopet J-P, et al. Study of host-and virus-related factors associated with spontaneous hepatitis C virus clearance. Tissue Antigens 2000;56:154-8.
31. Cramp M, Carucci P, Underhill J, et al. Association between HLA class II genotype and spontaneous clearance of hepatitis C viremia. J Hepatol 1998;29:207-13.
32. Harcourt G, Hellier S, Bunce M, et al. Effect of HLA class II genotype on T helper lymphocyte responses and viral control in hepatitis C virus infection. J Viral Hepat 2001;8:174-9.
33. McKiernan SM, Hagan R, Curry M, et al. The MHC is a major determinant of viral status, but not fibrotic stage, in individuals infected with hepatitis C. Gastroenterology 2000;118:1124-30.
34. Kristiansen OP, Larsen ZM, Pocoit F. CTLA-4 in autoimmune diseases - a general susceptibility gene to autoimmunity? Genes Immun 2000;1:170-84.
35. Agarwal K, Jones DEJ, Daly AK, et al. CTLA-4 gene polymorphism confers susceptibility to primary biliary cirrhosis. J Hepatol 2000;32:538-41.
36. Agarwal K, Czaja AJ, Jones DEJ, et al. CTLA-4 polymorphisms and susceptibility to type 1 autoimmune hepatitis. Hepatology 2000;31:49-53.
37. Yee LJ, Perez KA, Tang J, et al. Association of CTLA4 polymorphisms with sustained response to interferon and ribavirin therapy for chronic hepatitis C virus infection. J Infect Dis 2003;187:1264-71.
38. Donaldson P, Agarwal K, Craggs A, et al. HLA and interleukin-1 gene polymorphisms in primary biliary cirrhosis associations with disease progression and disease susceptibility. Gut 2001;48:397-402.
39. Grove J, Daly AK, Bassendine MF, et al. Interleukin 10 promoter region polymorphism and susceptibility to advanced alcoholic liver disease. Gut 2000;46:540-5.
40. Yee LJ, Tang J, Gibson AW, et al. Interleukin-10 polymorphisms as predictors of sustained response in antiviral therapy for chronic hepatitis C infection. Hepatology 2001;33:708-12.
41. Knapp S, Yee LJ, Frodsham AJ, et al. Polymorphisms in interferon-induced genes and the outcome of hepatitis virus infection: roles of MxA, OAS-1 and PKR. Genes Immun 2003;4:411-19.
42. Hugot J-P, Chamaillard M, Zouali H, J, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001;411:599-603.
43. Ogura Y, Bonen DK, Inohara N, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001;411:603-6.
44. Zhou Z, Lin X-Y, Akolkar PN, et al. Variation at NOD2/CARD15 in familial and sporadic cases of Crohn's disease in Ashkenazi Jewish population. Am J Gastroenterol 2002;97:3095-101.
45. Lesage S, Zouali H, Cezard J-P, et al. CARDI5/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet 2002;70:845-75.
46. Hijikata M, Ohta Y, Mishiro S. Identification of a single nucleotide polymorpghism in the MxA gene promoter (G/T at nt-88) correlated with the response of hepatitis C patients to interferon-1. Interviology 2000;43:124-7.