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Your search keyword '"Hirschfield G."' showing total 19 results
Start Over Author "Hirschfield G." Publisher bmj
19 results on '"Hirschfield G."'

4. PWE-038 Validation of Multiparametric MRI in The Assessment and Staging of Non-Alcoholic Fatty Liver Disease: Abstract PWE-038 Table 1

Author

Eddowes, P, primary, McDonald, N, additional, Davies, N, additional, Semple, S, additional, Hübscher, S, additional, Kendall, T, additional, Kelly, C, additional, Mavar, M, additional, Herlihy, A, additional, Newsome, P, additional, Olliff, S, additional, Fallowfield, J, additional, and Hirschfield, G, additional

Published
2016
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8. OC-030 Effective Stratification Of Hepatocellular Carcinoma Risk In Primary Biliary Cirrhosis: Results Of A Multi-centre International Study

Author

Trivedi, PJ, primary, Lammers, W, additional, van Buuren, H, additional, Janssen, H, additional, Invernizzi, P, additional, Battezzati, PM, additional, Floreani, A, additional, Pares, A, additional, Ponsioen, C, additional, Corpechot, C, additional, Poupon, R, additional, Mayo, M, additional, Talwalkar, J, additional, Burroughs, A, additional, Nevens, F, additional, Mason, A, additional, Bruns, T, additional, Li, K-K, additional, Kowdley, K, additional, Kumagi, T, additional, Cheung, A, additional, Lleo, A, additional, Cazagon, N, additional, Franceschet, I, additional, Caballería, L, additional, Boonstra, K, additional, de Vries, E, additional, Imam, M, additional, Pieri, G, additional, Kanwar, P, additional, Lindor, K, additional, Hansen, B, additional, and Hirschfield, G, additional

Published
2014
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19. Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis

Author

Martina Sterneck, Wolfgang Lieb, Christian Rust, Tom H. Karlsen, Massimo Pinzani, Erik Schrumpf, John E. Eaton, Gideon M. Hirschfield, Christoph Schramm, Richard Sandford, Ulrich Beuers, Andrew Mason, Espen Melum, Daniel Gotthardt, A. Boudewijn de Vries, I. Franceschet, Konstantinos N. Lazaridis, Floris Imhann, Marco Carbone, Pietro Invernizzi, Mark S. Silverberg, Simon Hohenester, Maria Consiglia Bragazzi, Andreas Teufel, Bart van Hoek, Martti Färkkilä, Einar Bjornsson, Cyriel Y. Ponsioen, Brijesh Srivastava, Joanne Verheij, Roger W. Chapman, Krista Rombouts, Niklas K. Björkström, Johannes R. Hov, Weiwei Wang, F. Sampaziotis, Ludovic Vallier, Albert Parés, Eleonora A. M. Festen, Kristian Holm, Kalliopi Zachou, Katrin Böttcher, Christopher L. Bowlus, Xiaojun Jiang, Trine Folseraas, Elisabeth M.G. de Vries, Simon M. Rushbrook, Piotr Milkiewicz, Carl A. Anderson, Georgios N. Dalekos, David Ellinghaus, Hanns-Ulrich Marschall, Rinse K. Weersma, Marco Marzioni, Olivier Chazouillères, Domenico Alvaro, Christian Rupp, Angela M. Cheung, Jimmy Z. Liu, Brian D. Juran, Michael P. Manns, Rudi Alberts, Bertus Eksteen, Tobias J. Weismüller, Graeme J.M. Alexander, Annarosa Floreani, Tobias Müller, Stefan Schreiber, Andre Franke, Elizabeth C. Goode, Henrike Lenzen, Arnau Vich Vila, Annika Bergquist, Kirsten Muri Boberg, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Gastroenterology and Hepatology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Graduate School, Pathology, Alberts, R, De Vries, E, Goode, E, Jiang, X, Sampaziotis, F, Rombouts, K, Böttcher, K, Folseraas, T, Weismüller, T, Mason, A, Wang, W, Alexander, G, Alvaro, D, Bergquist, A, Björkström, N, Beuers, U, Björnsson, E, Boberg, K, Bowlus, C, Bragazzi, M, Carbone, M, Chazouillères, O, Cheung, A, Dalekos, G, Eaton, J, Eksteen, B, Ellinghaus, D, Färkkilä, M, Festen, E, Floreani, A, Franceschet, I, Gotthardt, D, Hirschfield, G, Hoek, B, Holm, K, Hohenester, S, Hov, J, Imhann, F, Invernizzi, P, Juran, B, Lenzen, H, Lieb, W, Liu, J, Marschall, H, Marzioni, M, Melum, E, Milkiewicz, P, Müller, T, Pares, A, Rupp, C, Rust, C, Sandford, R, Schramm, C, Schreiber, S, Schrumpf, E, Silverberg, M, Srivastava, B, Sterneck, M, Teufel, A, Vallier, L, Verheij, J, Vila, A, Vries, B, Zachou, K, Chapman, R, Manns, M, Pinzani, M, Rushbrook, S, Lazaridis, K, Franke, A, Anderson, C, Karlsen, T, Ponsioen, C, Weersma, R, Centre of Excellence in Complex Disease Genetics, Doctoral Programme in Drug Research, Department of Medicine, Clinicum, Gastroenterologian yksikkö, HUS Abdominal Center, and Universitat de Barcelona

Subjects
Male, 0301 basic medicine, Oncology, Candidate gene, Cholangitis, medicine.medical_treatment, Medizin, Trasplantament hepàtic, Genome-wide association study, Kaplan-Meier Estimate, LIVER FIBROSIS, Liver transplantation, Bioinformatics, Sclerosing, Oral and gastrointestinal, Primary sclerosing cholangitis, genetics, liver transplantation, Cohort Studies, ACTIVATION, 0302 clinical medicine, MED/12 - GASTROENTEROLOGIA, MULTIPLE, 2.1 Biological and endogenous factors, EPIDEMIOLOGY, Aetiology, CIRRHOSIS, Bilious diseases and biliousness, Liver Disease, digestive, oral, and skin physiology, Gastroenterology, Single Nucleotide, Primary sclerosing cholangiti, Middle Aged, 3. Good health, ULCERATIVE-COLITIS, Disease Progression, Female, 030211 gastroenterology & hepatology, Adult, medicine.medical_specialty, Cholangitis, Sclerosing, Chronic Liver Disease and Cirrhosis, Clinical Sciences, Malalties del tracte biliar, Single-nucleotide polymorphism, HEPATIC STELLATE CELLS, Polymorphism, Single Nucleotide, International PSC Study Group, Article, Paediatrics and Reproductive Medicine, 03 medical and health sciences, Rare Diseases, Clinical Research, Internal medicine, Genetics, medicine, Humans, Polymorphism, GENOME-WIDE ASSOCIATION, Allele, Digestive Diseases - (Gallbladder), Survival analysis, Proportional Hazards Models, MALIGNANCY, The UK PSC Consortium, Transplantation, Gastroenterology & Hepatology, business.industry, Proportional hazards model, medicine.disease, RISK LOCI, Logistic Models, 030104 developmental biology, 3121 General medicine, internal medicine and other clinical medicine, genetic, Hepatic transplantation, Thrombospondins, Digestive Diseases, business, Genètica
Abstract

ObjectivePrimary sclerosing cholangitis (PSC) is a genetically complex, inflammatory bile duct disease of largely unknown aetiology often leading to liver transplantation or death. Little is known about the genetic contribution to the severity and progression of PSC. The aim of this study is to identify genetic variants associated with PSC disease progression and development of complications.DesignWe collected standardised PSC subphenotypes in a large cohort of 3402 patients with PSC. After quality control, we combined 130 422 single nucleotide polymorphisms of all patients—obtained using the Illumina immunochip—with their disease subphenotypes. Using logistic regression and Cox proportional hazards models, we identified genetic variants associated with binary and time-to-event PSC subphenotypes.ResultsWe identified genetic variant rs853974 to be associated with liver transplant-free survival (p=6.07×10–9). Kaplan-Meier survival analysis showed a 50.9% (95% CI 41.5% to 59.5%) transplant-free survival for homozygous AA allele carriers of rs853974 compared with 72.8% (95% CI 69.6% to 75.7%) for GG carriers at 10 years after PSC diagnosis. For the candidate gene in the region, RSPO3, we demonstrated expression in key liver-resident effector cells, such as human and murine cholangiocytes and human hepatic stellate cells.ConclusionWe present a large international PSC cohort, and report genetic loci associated with PSC disease progression. For liver transplant-free survival, we identified a genome-wide significant signal and demonstrated expression of the candidate gene RSPO3 in key liver-resident effector cells. This warrants further assessments of the role of this potential key PSC modifier gene.

Published
2017
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