+49A/G polymorphism of cytotoxic T-lymphocyte antigen 4 gene in type 1 autoimmune hepatitis and primary biliary cirrhosis: A meta-analysis

Hepatology Research

Volumn 41, Issue 2, 2011, Pages 151-159

  Miyake, Yasuhiro ^a   Ikeda, Fusao ^a   Takaki, Akinobu ^a   Nouso, Kazuhiro ^a   Yamamoto, Kazuhide ^a  

^a OKAYAMA UNIVERSITY   (Japan)

Author keywords

Autoimmune hepatitis; Cytotoxic T lymphocyte antigen 4; Meta analysis; Primary biliary cirrhosis; Single nucleotide polymorphism

Indexed keywords

CYTOTOXIC T LYMPHOCYTE ANTIGEN 4;

ALLELE; ARTICLE; AUTOIMMUNE HEPATITIS; CTLA 4 GENE; DISEASE PREDISPOSITION; GENE; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; META ANALYSIS (TOPIC); PRIMARY BILIARY CIRRHOSIS; PRIORITY JOURNAL;

EID: 79251489796     PISSN: 13866346     EISSN: 1872034X     Source Type: Journal    
DOI: 10.1111/j.1872-034X.2010.00757.x     Document Type: Article

References (49)

1. Kaplan MM, Gershwin ME. Primary biliary cirrhosis. N Engl J Med 2005; 353: 1261-73.
2. Krawitt EL. Autoimmune hepatitis. N Engl J Med 2006; 354: 54-66.
3. Scalapino KJ, Daikh DI. CTLA-4: a key regulatory point in the control of autoimmune disease. Immunol Rev 2008; 223: 143-55.
4. Teft WA, Kirchhof MG, Madrenas J. A molecular perspective of CTLA-4 function. Annu Rev Immunol 2006; 24: 65-97.
5. Anjos S, Nguyen A, Ounissi-Benkalha H, Tessier MC, Polychronakos C. A common autoimmunity predisposing signal peptide variant of the cytotoxic T-lymphocyte antigen 4 results in inefficient glycosylation of the susceptibility allele. J Biol Chem 2002; 277: 46478-86.
6. Kouki T, Sawai Y, Gardine CA, Fisfalen ME, Alegre ML, DeGroot LJ. CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves' disease. J Immunol 2000; 165: 6606-11.
7. Lee YH, Harley JB, Nath SK. CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis. Hum Genet 2005; 116: 361-7.
8. Kawasaki E, Imagawa A, Makino H etal. Differences in the contribution of the CTLA4 gene to susceptibility to fulminant and type 1A diabetes in Japanese patients. Diabetes Care 2008; 31: 1608-10.
9. Chang MC, Chang YT, Tien YW etal. T-cell regulatory gene CTLA-4 polymorphism/haplotype association with autoimmune pancreatitis. Clin Chem 2007; 53: 1700-5.
10. Downie-Doyle S, Bayat N, Rischmueller M, Lester S. Influence of CTLA4 haplotypes on susceptibility and some extraglandular manifestations in primary Sjögren's syndrome. Arthritis Rheum 2006; 54: 2434-40.
11. Agarwal K, Czaja AJ, Jones DE, Donaldson PT. Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphisms and susceptibility to type 1 autoimmune hepatitis. Hepatology 2000; 31: 49-53.
12. Fan LY, Tu XQ, Cheng QB etal. Cytotoxic T lymphocyte associated antigen-4 gene polymorphisms confer susceptibility to primary biliary cirrhosis and autoimmune hepatitis in Chinese population. World J Gastroenterol 2004; 10: 3056-9.
13. Schott E, Witt H, Pascu M etal. Association of CTLA4 single nucleotide polymorphisms with viral but not autoimmune liver disease. Eur J Gastroenterol Hepatol 2007; 19: 947-51.
14. Bittencourt PL, Farias AQ, Porta G etal. Frequency of concurrent autoimmune disorders in patients with autoimmune hepatitis: effect of age, gender, and genetic background. J Clin Gastroenterol 2008; 42: 300-5.
15. Umemura T, Ota M, Yoshizawa K etal. Association of cytotoxic T-lymphocyte antigen 4 gene polymorphisms with type 1 autoimmune hepatitis in Japanese. Hepatol Res 2008; 38: 689-95.
16. Bittencourt PL, Palácios SA, Farias AQ etal. Analysis of major histocompatibility complex and CTLA-4 alleles in Brazilian patients with primary biliary cirrhosis. J Gastroenterol Hepatol 2003; 18: 1061-6.
17. Kanno Y, Rai T, Monoe K etal. Possible association of cytotoxic T lymphocyte antigen-4 genetic polymorphism with liver damage of primary biliary cirrhosis in Japan. Fukushima J Med Sci 2006; 52: 79-85.
18. Donaldson P, Veeramani S, Baragiotta A etal. Cytotoxic T-lymphocyte-associated antigen-4 single nucleotide polymorphisms and haplotypes in primary biliary cirrhosis. Clin Gastroenterol Hepatol 2007; 5: 755-60.
19. Juran BD, Atkinson EJ, Schlicht EM, Fridley BL, Petersen GM, Lazaridis KN. Interacting alleles of the coinhibitory immunoreceptor genes cytotoxic T-lymphocyte antigen 4 and programmed cell-death 1 influence risk and features of primary biliary cirrhosis. Hepatology 2008; 47: 563-70.
20. Walker EJ, Hirschfield GM, Xu C etal. CTLA4/ICOS gene variants and haplotypes are associated with rheumatoid arthritis and primary biliary cirrhosis in the Canadian population. Arthritis Rheum 2009; 60: 931-7.
21. DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials 1986; 7: 177-88.
22. Begg CB, Mazumdar M. Operating characteristics of a rank correlation test for publication bias. Biometrics 1994; 50: 1088-101.
23. Bittencourt PL, Palácios SA, Cançado EL etal. Cytotoxic T lymphocyte antigen-4 gene polymorphisms do not confer susceptibility to autoimmune hepatitis types 1 and 2 in Brazil. Am J Gastroenterol 2003; 98: 1616-20.
24. Johnson PJ, McFarlane IG. Meeting report: International Autoimmune Hepatitis Group. Hepatology 1993; 18: 998-1005.
25. Alvarez F, Berg PA, Bianchi FB etal. International Autoimmune Hepatitis Group Report: review of criteria for diagnosis of autoimmune hepatitis. J Hepatol 1999; 31: 929-38.
26. Hirschfield GM, Liu X, Xu C etal. Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. N Engl J Med 2009; 360: 2544-55.
27. Juran BD, Atkinson EJ, Schlicht EM, Fridley BL, Lazaridis KN. Primary biliary cirrhosis is associated with a genetic variant in the 3' flanking region of the CTLA4 gene. Gastroenterology 2008; 135: 1200-6.
28. Poupon R, Ping C, Chrétien Y etal. Genetic factors of susceptibility and of severity in primary biliary cirrhosis. J Hepatol 2008; 49: 1038-45.
29. Agarwal K, Jones DE, Daly AK etal. CTLA-4 gene polymorphism confers susceptibility to primary biliary cirrhosis. J Hepatol 2000; 32: 538-41.
30. Joshita S, Umemura T, Yoshizawa K etal.; The Shinshu PBC Study Group. Association analysis of cytotoxic T-lymphocyte antigen 4 gene polymorphisms with primary biliary cirrhosis in Japanese patients. J Hepatol 2010; 53: 537-41.
31. Heathcote EJ. Management of primary biliary cirrhosis. The American Association for the Study of Liver Diseases practice guidelines. Hepatology 2000; 31: 1005-13.
32. Vergani D, Mieli-Vergani G. Aetiopathogenesis of autoimmune hepatitis. World J Gastroenterol 2008; 14: 3306-12.
33. Lleo A, Invernizzi P, Mackay IR, Prince H, Zhong RQ, Gershwin ME. Etiopathogenesis of primary biliary cirrhosis. World J Gastroenterol 2008; 14: 3328-37.
34. Czaja AJ. Genetic factors affecting the occurrence, clinical phenotype, and outcome of autoimmune hepatitis. Clin Gastroenterol Hepatol 2008; 6: 379-88.
35. Strettell MD, Donaldson PT, Thomson LJ etal. Allelic basis for HLA-encoded susceptibility to type 1 autoimmune hepatitis. Gastroenterology 1997; 112: 2028-35.
36. Yoshizawa K, Ota M, Katsuyama Y etal. Genetic analysis of the HLA region of Japanese patients with type 1 autoimmune hepatitis. J Hepatol 2005; 42: 578-84.
37. Selmi C, Mayo MJ, Bach N etal. Primary biliary cirrhosis in monozygotic and dizygotic twins: genetics, epigenetics, and environment. Gastroenterology 2004; 127: 485-92.
38. Liu X, Invernizzi P, Lu Y etal. Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. Nat Genet 2010; 42: 658-60.
39. Hirschfield GM, Liu X, Han Y etal. Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis. Nat Genet 2010; 42: 655-7.
40. Bogdanos DP, Baum H, Okamoto M etal. Primary biliary cirrhosis is characterized by IgG3 antibodies cross-reactive with the major mitochondrial autoepitope and its Lactobacillus mimic. Hepatology 2005; 42: 458-65.
41. Padgett KA, Selmi C, Kenny TP etal. Phylogenetic and immunological definition of four lipoylated proteins from Novosphingobium aromaticivorans, implications for primary biliary cirrhosis. J Autoimmun 2005; 24: 209-19.
42. Bogdanos DP, Baum H, Grasso A etal. Microbial mimics are major targets of crossreactivity with human pyruvate dehydrogenase in primary biliary cirrhosis. J Hepatol 2004; 40: 31-9.
43. Wakabayashi K, Lian ZX, Leung PS etal. Loss of tolerance in C57BL/6 mice to the autoantigen E2 subunit of pyruvate dehydrogenase by a xenobiotic with ensuing biliary ductular disease. Hepatology 2008; 48: 531-40.
44. Leung PS, Park O, Tsuneyama K etal. Induction of primary biliary cirrhosis in guinea pigs following chemical xenobiotic immunization. J Immunol 2007; 179: 2651-7.
45. Miyake Y, Iwasaki Y, Kobashi H etal. Clinical features of autoimmune hepatitis diagnosed based on simplified criteria of the International Autoimmune Hepatitis Group. Dig Liver Dis 2010; 42: 210-15.
46. Teufel A, Weinmann A, Kahaly GJ etal. Concurrent Autoimmune Diseases in Patients With Autoimmune Hepatitis. J Clin Gastroenterol 2010; 44: 208-13.
47. Sakauchi F, Oura A, Ohnishi H, Mori M. Comparison of the clinical features of Japanese patients with primary biliary cirrhosis in 1999 and 2004: utilization of clinical data when patients applied to receive public financial aid. J Epidemiol 2007; 17: 210-14.
48. Ban Y, Davies TF, Greenberg DA etal. Analysis of the CTLA-4, CD28, and inducible costimulator (ICOS) genes in autoimmune thyroid disease. Genes Immun 2003; 4: 586-93.
49. Han S, Li Y, Mao Y, Xie Y. Meta-analysis of the association of CTLA-4 exon-1 +49A/G polymorphism with rheumatoid arthritis. Hum Genet 2005; 118: 123-32.