Genome-wide association study identifies variants associated with autoimmune hepatitis type 1

Gastroenterology

Volumn 147, Issue 2, 2014, Pages

  De Boer, Ynto S ^a   Van Gerven, Nicole M F ^a   Zwiers, Antonie ^a   Verwer, Bart J ^a   Van Hoek, Bart ^b   Van Erpecum, Karel J ^c   Beuers, Ulrich ^d   Van Buuren, Henk R ^e   Drenth, Joost P H ^f   Den Ouden, Jannie W ^g   Verdonk, Robert C ^h,i   Koek, Ger H ^j   Brouwer, Johannes T ^k   Guichelaar, Maureen M J ^l   Vrolijk, Jan M ^m   Kraal, Georg ^a   Mulder, Chris J J ^a   Van Nieuwkerk, Carin M J ^a   Fischer, Janett ⁿ   Berg, Thomas ⁿ   Stickel, Felix ^o   Sarrazin, Christoph ^p   Schramm, Christoph ^q   Lohse, Ansgar W ^q   Weiler Normann, Christina ^q   Lerch, Markus M ^r   Nauck, Matthias ^r   Völzke, Henry ^r   Homuth, Georg ^r   Bloemena, Elisabeth ^a   Verspaget, Hein W ^b   Kumar, Vinod ^h   Zhernakova, Alexandra ^h   Wijmenga, Cisca ^h   Franke, Lude ^h   Bouma, Gerd ^a   more..

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e ERASMUS MEDICAL CENTER   (Netherlands)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g HAGA HOSPITAL   (Netherlands)

^h UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

ⁱ ST ANTONIUS HOSPITAL   (Netherlands)

^j MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^k REINIER DE GRAAF HOSPITAL   (Netherlands)

^l MEDISCH SPECTRUM TWENTE   (Netherlands)

^m RIJNSTATE HOSPITAL   (Netherlands)

ⁿ UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^o UNIVERSITY OF BERN   (Switzerland)

^p GOETHE UNIVERSITY   (Germany)

^q UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^r UNIVERSITY MEDICINE GREIFSWALD   (Germany)

more..

Author keywords

Autoimmunity; Genetics; GWAS; SH2B Adaptor Protein 3

Indexed keywords

HLA DRB1 ANTIGEN;

ADULT; ARTICLE; AUTOIMMUNE HEPATITIS; AUTOIMMUNE HEPATITIS TYPE 1; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MAJOR HISTOCOMPATIBILITY COMPLEX; MALE; MULTIDIMENSIONAL SCALING; NETHERLANDS; PRIMARY BILIARY CIRRHOSIS; PRIMARY SCLEROSING CHOLANGITIS; PRIORITY JOURNAL; QUALITY CONTROL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

AUTOIMMUNITY; GENETICS; GWAS; SH2B ADAPTOR PROTEIN 3;

ADULT; AUTOIMMUNITY; CARD SIGNALING ADAPTOR PROTEINS; CASE-CONTROL STUDIES; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GERMANY; HEPATITIS, AUTOIMMUNE; HLA-DRB1 CHAINS; HUMANS; MAJOR HISTOCOMPATIBILITY COMPLEX; MALE; MIDDLE AGED; NETHERLANDS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; RISK FACTORS;

EID: 84904632006     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2014.04.022     Document Type: Article

References (57)

1. K.M. Boberg Prevalence and epidemiology of autoimmune hepatitis Clin Liver Dis 6 2002 635 647
2. M.P. Manns, A.J. Czaja, and J.D. Gorham et al. Diagnosis and management of autoimmune hepatitis Hepatology 51 2010 2193 2213
3. M.S. Longhi, Y. Ma, and G. Mieli-Vergani et al. Aetiopathogenesis of autoimmune hepatitis J Autoimmun 34 2010 7 14
4. F. Alvarez, P.A. Berg, and F.B. Bianchi et al. International Autoimmune Hepatitis Group Report: review of criteria for diagnosis of autoimmune hepatitis J Hepatol 31 1999 929 938
5. K.M. Boberg, R.W. Chapman, and G.M. Hirschfield et al. Overlap syndromes: the International Autoimmune Hepatitis Group (IAIHG) position statement on a controversial issue J Hepatol 54 2011 374 385
6. J. Woodward, and J. Neuberger Autoimmune overlap syndromes Hepatology 33 2001 994 1002
7. G.F. Mells, A. Kaser, and T.H. Karlsen Novel insights into autoimmune liver diseases provided by genome-wide association studies J Autoimmun 46 2013 41 54
8. G.M. Hirschfield, X. Liu, and C. Xu et al. Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants N Engl J Med 360 2009 2544 2555
9. X. Liu, P. Invernizzi, and Y. Lu et al. Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis Nat Genet 42 2010 658 660
10. G.F. Mells, J.A. Floyd, and K.I. Morley et al. Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis Nat Genet 43 2011 329 332
11. M. Nakamura, N. Nishida, and M. Kawashima et al. Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population Am J Hum Genet 91 2012 721 728
12. T.H. Karlsen, A. Franke, and E. Melum et al. Genome-wide association analysis in primary sclerosing cholangitis Gastroenterology 138 2010 1102 1111
13. E. Melum, A. Franke, and C. Schramm et al. Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci Nat Genet 43 2011 17 19
14. G.M. Hirschfield, X. Liu, and Y. Han et al. Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis Nat Genet 42 2010 655 657
15. P.T. Donaldson, D.G. Doherty, and K.M. Hayllar et al. Susceptibility to autoimmune chronic active hepatitis: human leukocyte antigens DR4 and A1-B8-DR3 are independent risk factors Hepatology 13 1991 701 706
16. D.G. Doherty, P.T. Donaldson, and J.A. Underhill et al. Allelic sequence variation in the HLA class II genes and proteins in patients with autoimmune hepatitis Hepatology 19 1994 609 615
17. A.J. Czaja, M.D. Strettell, and L.J. Thomson et al. Associations between alleles of the major histocompatibility complex and type 1 autoimmune hepatitis Hepatology 25 1997 317 323
18. T. Seki, M. Ota, and S. Furuta et al. HLA class II molecules and autoimmune hepatitis susceptibility in Japanese patients Gastroenterology 103 1992 1041 1047
19. L.C. Oliveira, G. Porta, and M.L. Marin et al. Autoimmune hepatitis, HLA and extended haplotypes Autoimmun Rev 10 2011 189 193
20. K. Agarwal, A.J. Czaja, and D.E. Jones et al. Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphisms and susceptibility to type 1 autoimmune hepatitis Hepatology 31 2000 49 53
21. L.Y. Fan, X.Q. Tu, and Q.B. Cheng et al. Cytotoxic T lymphocyte associated antigen-4 gene polymorphisms confer susceptibility to primary biliary cirrhosis and autoimmune hepatitis in Chinese population World J Gastroenterol 10 2004 3056 3059
22. Y. Miyake, F. Ikeda, and A. Takaki et al. +49A/G polymorphism of cytotoxic T-lymphocyte antigen 4 gene in type 1 autoimmune hepatitis and primary biliary cirrhosis: a meta-analysis Hepatol Res 41 2011 151 159
23. P.L. Bittencourt, S.A. Palacios, and E.L. Cancado et al. Cytotoxic T lymphocyte antigen-4 gene polymorphisms do not confer susceptibility to autoimmune hepatitis types 1 and 2 in Brazil Am J Gastroenterol 98 2003 1616 1620
24. E. Schott, H. Witt, and M. Pascu et al. Association of CTLA4 single nucleotide polymorphisms with viral but not autoimmune liver disease Eur J Gastroenterol Hepatol 19 2007 947 951
25. N.M. van Gerven, Y.S. de Boer, and A. Zwiers et al. Cytotoxic T Lymphocyte Antigen-4 +49A/G polymorphism does not affect susceptibility to autoimmune hepatitis Liver Int 33 2013 1039 1043
26. A. Hiraide, F. Imazeki, and O. Yokosuka et al. Fas polymorphisms influence susceptibility to autoimmune hepatitis Am J Gastroenterol 100 2005 1322 1329
27. J.H. Ngu, M.C. Wallace, and T.R. Merriman et al. Association of the HLA locus and TNF with type I autoimmune hepatitis susceptibility in New Zealand Caucasians Springerplus 2 2013 355
28. S. Yokosawa, K. Yoshizawa, and M. Ota et al. A genomewide DNA microsatellite association study of Japanese patients with autoimmune hepatitis type 1 Hepatology 45 2007 384 390
29. C.J. Lessard, J.A. Ice, and I. Adrianto et al. The genomics of autoimmune disease in the era of genome-wide association studies and beyond Autoimmun Rev 11 2012 267 275
30. R.P. Stolk, J.G. Rosmalen, and D.S. Postma et al. Universal risk factors for multifactorial diseases: LifeLines: a three-generation population-based study Eur J Epidemiol 23 2008 67 74
31. H. Volzke, D. Alte, and C.O. Schmidt et al. Cohort profile: the study of health in Pomerania Int J Epidemiol 40 2011 294 307
32. C.A. Anderson, F.H. Pettersson, and G.M. Clarke et al. Data quality control in genetic case-control association studies Nat Protoc 5 2010 1564 1573
33. A.L. Price, N.J. Patterson, and R.M. Plenge et al. Principal components analysis corrects for stratification in genome-wide association studies Nat Genet 38 2006 904 909
34. B. Devlin, and K. Roeder Genomic control for association studies Biometrics 55 1999 997 1004
35. S. Holm A simple sequentially rejective multiple test procedure Scand J Stat 1979 65 70
36. C.J. Willer, Y. Li, and G.R. Abecasis METAL: fast and efficient meta-analysis of genomewide association scans Bioinformatics 26 2010 2190 2191
37. X. Jia, B. Han, and S. Onengut-Gumuscu et al. Imputing amino acid polymorphisms in human leukocyte antigens PLoS One 8 2013 e64683
38. D.A. van Heel, L. Franke, and K.A. Hunt et al. A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21 Nat Genet 39 2007 827 829
39. J.Z. Liu, M.A. Almarri, and D.J. Gaffney et al. Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis Nat Genet 44 2012 1137 1141
40. J.Z. Liu, J.R. Hov, and T. Folseraas et al. Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis Nat Genet 45 2013 670 675
41. S. Gery, and H.P. Koeffler Role of the adaptor protein LNK in normal and malignant hematopoiesis Oncogene 32 2013 3111 3118
42. Y. Li, X. He, and J. Schembri-King et al. Cloning and characterization of human Lnk, an adaptor protein with pleckstrin homology and Src homology 2 domains that can inhibit T cell activation J Immunol 164 2000 5199 5206
43. H.J. Westra, M.J. Peters, and T. Esko et al. Systematic identification of trans eQTLs as putative drivers of known disease associations Nat Genet 45 2013 1238 1243
44. J.C. Barrett, D.G. Clayton, and P. Concannon et al. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes Nat Genet 41 2009 703 707
45. K.A. Hunt, A. Zhernakova, and G. Turner et al. Newly identified genetic risk variants for celiac disease related to the immune response Nat Genet 40 2008 395 402
46. N. Eriksson, J.Y. Tung, and A.K. Kiefer et al. Novel associations for hypothyroidism include known autoimmune risk loci PLoS One 7 2012 e34442
47. E.A. Stahl, S. Raychaudhuri, and E.F. Remmers et al. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci Nat Genet 42 2010 508 514
48. M. Blonska, and X. Lin NF-kappaB signaling pathways regulated by CARMA family of scaffold proteins Cell Res 21 2011 55 70
49. L.M. McAllister-Lucas, J. Ruland, and K. Siu et al. CARMA3/Bcl10/MALT1- dependent NF-kappaB activation mediates angiotensin II-responsive inflammatory signaling in nonimmune cells Proc Natl Acad Sci U S A 104 2007 139 144
50. R. Bataller, and D.A. Brenner Liver fibrosis J Clin Invest 115 2005 209 218
51. T. Jiang, B. Grabiner, and Y. Zhu et al. CARMA3 is crucial for EGFR-Induced activation of NF-kappaB and tumor progression Cancer Res 71 2011 2183 2192
52. S.G. Crone, A. Jacobsen, and B. Federspiel et al. microRNA-146a inhibits G protein-coupled receptor-mediated activation of NF-kappaB by targeting CARD10 and COPS8 in gastric cancer Mol Cancer 11 2012 71
53. Z. Miao, T. Zhao, and Z. Wang et al. CARMA3 is overexpressed in colon cancer and regulates NF-kappaB activity and cyclin D1 expression Biochem Biophys Res Commun 425 2012 781 787
54. Z. Li, L. Qu, and Q. Dong et al. Overexpression of CARMA3 in non-small-cell lung cancer is linked for tumor progression PLoS One 7 2012 e36903
55. T. Zhao, Z. Miao, and Z. Wang et al. CARMA3 overexpression accelerates cell proliferation and inhibits paclitaxel-induced apoptosis through NF-kappaB regulation in breast cancer cells Tumour Biol 34 2013 3041 3047
56. A. Zhernakova, C.C. van Diemen, and C. Wijmenga Detecting shared pathogenesis from the shared genetics of immune-related diseases Nat Rev Genet 10 2009 43 55
57. T. Folseraas, E. Melum, and P. Rausch et al. Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci J Hepatol 57 2012 366 375