Genome-Wide Association Analysis in Primary Sclerosing Cholangitis

Gastroenterology - Tập 138 - Trang 1102-1111 - 2010
Tom H. Karlsen1, Andre Franke2, Espen Melum1, Arthur Kaser3, Johannes Roksund Hov1, Tobias Balschun2, Benedicte A. Lie4, Annika Bergquist5, Christoph Schramm6, Tobias J. Weismüller7, Daniel Gotthardt8, Christian Rust9, Eva E.R. Philipp2, Teresa Fritz3, Liesbet Henckaerts10, Rinse K. Weersma11, Pieter Stokkers12, Cyriel Y. Ponsioen12, Cisca Wijmenga13, Martina Sterneck6
1Medical Department, Rikshospitalet University Hospital and University of Oslo, Oslo, Norway
2Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany
3Department of Gastroenterology and Hepatology, Innsbruck Medical University, Innsbruck, Austria
4Institute of Immunology, Rikshospitalet University Hospital, Oslo, Norway
5Department of Gastroenterology and Hepatology, Karolinska University Hospital Huddinge, Stockholm, Sweden
61st Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
7Department of Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, Hannover, Germany
8Department of Medicine, University Hospital of Heidelberg, Heidelberg, Germany
9Department of Medicine 2, Grosshadern, University of Munich, Munich, Germany
10Department of Gastroenterology, University Hospital Gasthuisberg, Leuven, Belgium
11Department of Gastroenterology and Hepatology, University Medical Center Groningen and University of Groningen, The Netherlands
12Department of Gastroenterology and Hepatology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
13Department of Genetics, University Medical Center Groningen and University of Groningen, Groningen, The Netherlands

Tài liệu tham khảo

Chapman, 1980, Primary sclerosing cholangitis: a review of its clinical features, cholangiography, and hepatic histology, Gut, 21, 870, 10.1136/gut.21.10.870 Boberg, 1998, Incidence and prevalence of primary biliary cirrhosis, primary sclerosing cholangitis, and autoimmune hepatitis in a Norwegian population, Scand J Gastroenterol, 33, 99, 10.1080/00365529850166284 Bambha, 2003, Incidence, clinical spectrum, and outcomes of primary sclerosing cholangitis in a United States community, Gastroenterology, 125, 1364, 10.1016/j.gastro.2003.07.011 Soetikno, 2002, Increased risk of colorectal neoplasia in patients with primary sclerosing cholangitis and ulcerative colitis: a meta-analysis, Gastrointest Endosc, 56, 48, 10.1067/mge.2002.125367 Bergquist, 2008, Increased risk of primary sclerosing cholangitis and ulcerative colitis in first-degree relatives of patients with primary sclerosing cholangitis, Clin Gastroenterol Hepatol, 6, 939, 10.1016/j.cgh.2008.03.016 Schrumpf, 1982, HLA antigens and immunoregulatory T cells in ulcerative colitis associated with hepatobiliary disease, Scand J Gastroenterol, 17, 187, 10.3109/00365528209182038 Karlsen, 2007, Genetic epidemiology of primary sclerosing cholangitis, World J Gastroenterol, 13, 5421, 10.3748/wjg.v13.i41.5421 Horton, 2004, Gene map of the extended human MHC, Nat Rev Genet, 5, 889, 10.1038/nrg1489 Franke, 2008, Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis, Nat Genet, 40, 713, 10.1038/ng.148 Fisher, 2008, Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease, Nat Genet, 40, 710, 10.1038/ng.145 Silverberg, 2009, Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study, Nat Genet, 41, 216, 10.1038/ng.275 Franke, 2008, Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility, Nat Genet, 40, 1319, 10.1038/ng.221 Purcell, 2007, PLINK: a tool set for whole-genome association and population-based linkage analyses, Am J Hum Genet, 81, 559, 10.1086/519795 2007, Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls, Nature, 447, 661, 10.1038/nature05911 Fukushima, 2006, Bioinformatic approach for understanding the heterogeneity of cholangiocytes, World J Gastroenterol, 12, 3481, 10.3748/wjg.v12.i22.3481 Wang, 2003, A PCR primer bank for quantitative gene expression analysis, Nucleic Acids Res, 31, e154, 10.1093/nar/gng154 Baranzini, 2009, Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis, Hum Mol Genet, 18, 767, 10.1093/hmg/ddn388 Comabella, 2008, Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms, PLoS ONE, 3, e3490, 10.1371/journal.pone.0003490 Weersma, 2009, Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort, Am J Gastroenterol, 104, 630 Filmus, 2008, Glypicans, Genome Biol, 9, 224, 10.1186/gb-2008-9-5-224 Capurro, 2003, Glypican-3: a novel serum and histochemical marker for hepatocellular carcinoma, Gastroenterology, 125, 89, 10.1016/S0016-5085(03)00689-9 Goyette, 2008, Gene-centric association mapping of chromosome 3p implicates MST1 in IBD pathogenesis, Mucosal Immunol, 1, 131, 10.1038/mi.2007.15 Capurro, 2005, Glypican-3 promotes the growth of hepatocellular carcinoma by stimulating canonical Wnt signaling, Cancer Res, 65, 6245, 10.1158/0008-5472.CAN-04-4244 Maruyama, 2002, Identification of membrane-type receptor for bile acids (M-BAR), Biochem Biophys Res Commun, 298, 714, 10.1016/S0006-291X(02)02550-0 Keitel, 2008, Expression and function of the bile acid receptor TGR5 in Kupffer cells, Biochem Biophys Res Commun, 372, 78, 10.1016/j.bbrc.2008.04.171 Keitel, 2007, The G-protein coupled bile salt receptor TGR5 is expressed in liver sinusoidal endothelial cells, Hepatology, 45, 695, 10.1002/hep.21458 Keitel, 2009, The membrane-bound bile acid receptor TGR5 is localized in the epithelium of human gallbladders, Hepatology, 50, 861, 10.1002/hep.23032 Pall, 2007, Primary sclerosing cholangitis in childhood is associated with abnormalities in cystic fibrosis-mediated chloride channel function, J Pediatr, 151, 255, 10.1016/j.jpeds.2007.03.062 Zhou, 2002, Activation of the RON receptor tyrosine kinase by macrophage-stimulating protein inhibits inducible cyclooxygenase-2 expression in murine macrophages, J Biol Chem, 277, 38104, 10.1074/jbc.M206167200 Karlsen, 2007, Particular genetic variants of ligands for natural killer cell receptors may contribute to the HLA associated risk of primary sclerosing cholangitis, J Hepatol, 46, 899, 10.1016/j.jhep.2007.01.032 Vandiedonck, 2004, Pleiotropic effects of the 8.1 HLA haplotype in patients with autoimmune myasthenia gravis and thymus hyperplasia, Proc Natl Acad Sci U S A, 101, 15464, 10.1073/pnas.0406756101 Loftus, 2005, PSC-IBD: a unique form of inflammatory bowel disease associated with primary sclerosing cholangitis, Gut, 54, 91, 10.1136/gut.2004.046615 Karlsen, 2007, Genetic polymorphisms associated with inflammatory bowel disease do not confer risk for primary sclerosing cholangitis, Am J Gastroenterol, 102, 115, 10.1111/j.1572-0241.2006.00928.x Bungay, 2008, Prevalence and determinants of primary sclerosing cholangitis in a cohort of patients with inflammatory bowel disease and normal liver function tests, Gut, 57, A107 Duerr, 2006, A genome-wide association study identifies IL23R as an inflammatory bowel disease gene, Science, 314, 1461, 10.1126/science.1135245