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1. Follow-up magnetic resonance imaging/3D-magnetic resonance cholangiopancreatography in patients with primary sclerosing cholangitis: challenging for experts to interpret

Author

Zenouzi, R., Liwinski, T., Yamamura, J., Weiler-Normann, C., Sebode, M., Keller, S., Lohse, A. W., Schramm, C., Aabakken, L., Arrivé, L., Bowlus, C. L., Bungay, H., van Buuren, H. R., Cardinale, V., Carey, E. J., Chazouillères, O., Cheung, A., Culver, E. L., Dufour, J. F., Dumonceau, J. M., Eaton, J. E., Eddowes, P. J., Färkkilä, M., Floreani, A., Franceschet, I., Hohenester, S. D., Kemmerich, G., Krawczyk, M., Zimmer, V., Lenzen, H., Levy, C., Marschall, H. U., Marzioni, M., Motta, R., Muratori, L., Pereira, S. P., Poley, J. W., Rimola, J., Ringe, K. I., Rushbrook, S., Simpson, B. W., Schrumpf, E., Spina, J. C., Terziroli Beretta-Piccoli, B., Trauner, M., Tringali, A., Venkatesh, S. K., Vesterhus, M., Villamil, A., Weismüller, T. J., Ytting, H., Zenouzi, R., Liwinski, T., Yamamura, J., Weiler-Normann, C., Sebode, M., Keller, S., Lohse, A.W., Schramm, C., Aabakken, L., Arrivé, L., Bowlus, C.L., Bungay, H., van Buuren, H.R., Cardinale, V., Carey, E.J., Chazouillères, O., Cheung, A., Culver, E.L., Dufour, J.F., Dumonceau, J.M., Eaton, J.E., Eddowes, P.J., Färkkilä, M., Floreani, A., Franceschet, I., Hohenester, S.D., Kemmerich, G., Krawczyk, M., Zimmer, V., Lenzen, H., Levy, C., Marschall, H.U., Marzioni, M., Motta, R., Muratori, L., Pereira, S.P., Poley, J.W., Rimola, J., Ringe, K.I., Rushbrook, S., Simpson, B.W., Schrumpf, E., Spina, J.C., Terziroli Beretta-Piccoli, B., Trauner, M., Tringali, A., Venkatesh, S.K., Vesterhus, M., Villamil, A., Weismüller, T.J., Ytting, H., Culver, E, and Gastroenterology & Hepatology

Subjects
Adult, Liver Cirrhosis, Male, medicine.medical_specialty, Cirrhosis, Cholangiopancreatography, Magnetic Resonance, Cholangitis, Sclerosing, Constriction, Pathologic, Primary sclerosing cholangitis, Cholangiocarcinoma, Diagnosis, Differential, 03 medical and health sciences, Imaging, Three-Dimensional, 0302 clinical medicine, Surveys and Questionnaires, Image Interpretation, Computer-Assisted, medicine, Humans, Pharmacology (medical), In patient, Expert Testimony, Cholangiopancreatography, Endoscopic Retrograde, Magnetic resonance cholangiopancreatography, Endoscopic retrograde cholangiopancreatography, Hepatology, medicine.diagnostic_test, business.industry, Elevated total bilirubin, Gastroenterology, Reproducibility of Results, Magnetic resonance imaging, Middle Aged, medicine.disease, Bile Ducts, Intrahepatic, Bile Duct Neoplasms, 030220 oncology & carcinogenesis, Female, 030211 gastroenterology & hepatology, Clinical Competence, Radiology, Bilirubin levels, business, Follow-Up Studies
Abstract

Background: In patients with primary sclerosing cholangitis follow‐up magnetic resonance imaging (MRI) with magnetic resonance cholangiopancreatography (MRCP) is performed by many centres, particularly for the early detection of biliary malignancies and strictures. Clinically meaningful MRI‐based definitions of primary sclerosing cholangitis related complications are, however, lacking.Aim: To investigate how primary sclerosing cholangitis experts interpret follow‐up MRI/MRCP with a focus on conclusions that may impact clinical decision‐making in primary sclerosing cholangitis.Methods: Within the International Primary Sclerosing Cholangitis Study Group, an online survey on 16 real‐life primary sclerosing cholangitis cases including clinical and biochemical information as well as a T2‐weighted liver MRI/3D‐MRCP was conducted. The interpretation of images and subsequent recommendations were assessed using a multiple‐choice questionnaire. An inter‐rater reliability calculation (Fleiss′ kappa) was performed and factors potentially affecting the interpretation of magnetic resonance images were analysed using generalised linear mixed‐effect models.Results: Forty‐four members/associates of the International Primary Sclerosing Cholangitis Study Group (median experience in the care of primary sclerosing cholangitis patients: 14 years) completed the survey. The MRI interpretation significantly varied among the participants. The lowest agreement was found with respect to the indication to perform subsequent endoscopic retrograde cholangiopancreatography (ERCP; Κ = 0.12, 95%CI 0.11‐0.14). Elevated total bilirubin was the variable with the strongest effect on the rate of suspected dominant strictures, cholangiocarcinoma or ERCP recommendations. Liver cirrhosis did not prevent participants from recommending ERCP. Overall, the survey participants′ recommendations contrasted the real‐life management and outcome.Conclusions: In primary sclerosing cholangitis, the interpretation of follow‐up MRI/3D‐MRCP significantly varies even among experts and seems to be primarily affected by bilirubin levels. Generally accepted MRI‐based definitions of primary sclerosing cholangitis‐related complications are urgently needed.

Published
2018
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2. 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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3. Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease

Author

Christopher L. Bowlus, Sören Mucha, Piotr Milkiewicz, Jennifer G. Sambrook, Michael P. Manns, Peter R. Durie, Daniel J. Gaffney, Catalina Coltescu, Konstantinos N. Lazaridis, David Ellinghaus, Daniel Gotthardt, George F. Mells, Espen Melum, Joseph A. Odin, Mattias Laudes, Cisca Wijmenga, Kris V. Kowdley, Annarosa Floreani, Tejas S. Shah, Richard Sandford, Erik M. Schlicht, Kirsten Muri Boberg, Javier Gutierrez-Achury, Felix Braun, Martina Sterneck, Carl A. Anderson, Tom H. Karlsen, Andre Franke, Velimir A. Luketic, Brijesh Srivastava, Aliya Gulamhusein, Elizabeth C. Goode, Kelly Spiess, Gunnar Jacobs, Olivier Chazouillères, Wolfgang Lieb, Tobias Müller, Andreas Teufel, Trine Folseraas, Roger W. Chapman, Hanns-Ulrich Marschall, David J. Roberts, Christoph Schramm, Sun-Gou Ji, Albert Parés, Mariza de Andrade, Stefan Schreiber, Elizabeth J. Atkinson, Kimmo Kontula, Pietro Invernizzi, Simon M. Rushbrook, Luke Jostins, Carmel Moore, Naga Chalasani, Jimmy Z. Liu, Brian D. Juran, Willem H. Ouwehand, Graeme J.M. Alexander, John E. Eaton, Gideon M. Hirschfield, Natsuhiko Kumasaka, Martti Färkkilä, Annika Bergquist, Kapil B. Chopra, John Danesh, Bertus Eksteen, Tobias J. Weismüller, Rinse K. Weersma, Ulrich Beuers, Severine Vermeire, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Gastroenterology and Hepatology, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Ji, S, Juran, B, Mucha, S, Folseraas, T, Jostins, L, Melum, E, Kumasaka, N, Atkinson, E, Schlicht, E, Liu, J, Shah, T, Gutierrez Achury, J, Boberg, K, Bergquist, A, Vermeire, S, Eksteen, B, Durie, P, Farkkila, M, Müller, T, Schramm, C, Sterneck, M, Weismüller, T, Gotthardt, D, Ellinghaus, D, Braun, F, Teufel, A, Laudes, M, Lieb, W, Jacobs, G, Beuers, U, Weersma, R, Wijmenga, C, Marschall, H, Milkiewicz, P, Pares, A, Kontula, K, Chazouillères, O, Invernizzi, P, Goode, E, Spiess, K, Moore, C, Sambrook, J, Ouwehand, W, Roberts, D, Danesh, J, Floreani, A, Gulamhusein, A, Eaton, J, Schreiber, S, Coltescu, C, Bowlus, C, Luketic, V, Odin, J, Chopra, K, Kowdley, K, Chalasani, N, Manns, M, Srivastava, B, Mells, G, Sandford, R, Alexander, G, Gaffney, D, Chapman, R, Hirschfield, G, de Andrade, M, Rushbrook, S, Franke, A, Karlsen, T, Lazaridis, K, Anderson, C, and Universitat de Barcelona

Subjects
0301 basic medicine, Genome-wide association study, VARIANTS, Bioinformatics, Gastroenterology, Inflammatory bowel disease, 0302 clinical medicine, Risk Factors, Gastroenterologia, education.field_of_study, digestive, oral, and skin physiology, REGIONS, Ulcerative colitis, Inflamació, 3. Good health, Malalties inflamatòries intestinals, ULCERATIVE-COLITIS, 030211 gastroenterology & hepatology, medicine.medical_specialty, SUSCEPTIBILITY LOCI, Population, Cholangitis, Sclerosing, Locus (genetics), Biology, Inflammatory bowel diseases, digestive system, Polymorphism, Single Nucleotide, Article, Primary sclerosing cholangitis, 03 medical and health sciences, Internal medicine, REVEALS, Genetics, medicine, SNP, Humans, RNA, Messenger, Allele, TRANSCRIPTOME, education, METAANALYSIS, Alleles, Adaptor Proteins, Signal Transducing, Inflammation, medicine.disease, Inflammatory Bowel Diseases, digestive system diseases, 030104 developmental biology, PSORIATIC-ARTHRITIS, Colitis, Ulcerative, Genome-Wide Association Study
Abstract

Primary sclerosing cholangitis (PSC) is a rare progressive disorder leading to bile duct destruction; similar to 75% of patients have comorbid inflammatory bowel disease (IBD). We undertook the largest genome-wide association study of PSC (4,796 cases and 19,955 population controls) and identified four new genome-wide significant loci. The most associated SNP at one locus affects splicing and expression of UBASH3A, with the protective allele (C) predicted to cause nonstop-mediated mRNA decay and lower expression of UBASH3A. Further analyses based on common variants suggested that the genome-wide genetic correlation (r(G)) between PSC and ulcerative colitis (UC) (r(G) = 0.29) was significantly greater than that between PSC and Crohn's disease (CD) (r(G) = 0.04) (P = 2.55 x 10(-15)). UC and CD were genetically more similar to each other (r(G) = 0.56) than either was to PSC (P

Published
2016

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