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Your search keyword '"Hov, Johannes Roksund"' showing total 3 results
3 results on '"Hov, Johannes Roksund"'

2. Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis

Author

Alberts, Rudi, de Vries, Elisabeth MG, Goode, Elizabeth C, Jiang, Xiaojun, Sampaziotis, Fotis, Rombouts, Krista, Böttcher, Katrin, Folseraas, Trine, Weismüller, Tobias J, Mason, Andrew L, Wang, Weiwei, Alexander, Graeme, Alvaro, Domenico, Bergquist, Annika, Björkström, Niklas K, Beuers, Ulrich, Björnsson, Einar, Boberg, Kirsten Muri, Bowlus, Christopher L, Bragazzi, Maria C, Carbone, Marco, Chazouillères, Olivier, Cheung, Angela, Dalekos, Georgios, Eaton, John, Eksteen, Bertus, Ellinghaus, David, Färkkilä, Martti, Festen, Eleonora AM, Floreani, Annarosa, Franceschet, Irene, Gotthardt, Daniel Nils, Hirschfield, Gideon M, Hoek, B van, Holm, Kristian, Hohenester, Simon, Hov, Johannes Roksund, Imhann, Floris, Invernizzi, Pietro, Juran, Brian D, Lenzen, Henrike, Lieb, Wolfgang, Liu, Jimmy Z, Marschall, Hanns-Ulrich, Marzioni, Marco, Melum, Espen, Milkiewicz, Piotr, Müller, Tobias, Pares, Albert, Rupp, Christian, Rust, Christian, Sandford, Richard N, Schramm, Christoph, Schreiber, Stefan, Schrumpf, Erik, Silverberg, Mark S, Srivastava, Brijesh, Sterneck, Martina, Teufel, Andreas, Vallier, Ludovic, Verheij, Joanne, Vila, Arnau Vich, Vries, Boudewijn de, Zachou, Kalliopi, Chapman, Roger W, Manns, Michael P, Pinzani, Massimo, Rushbrook, Simon M, Lazaridis, Konstantinos N, Franke, Andre, Anderson, Carl A, Karlsen, Tom H, Ponsioen, Cyriel Y, and Weersma, Rinse K

Subjects
Genetics, Transplantation, Chronic Liver Disease and Cirrhosis, Liver Disease, Clinical Research, Rare Diseases, Digestive Diseases - (Gallbladder), Digestive Diseases, Aetiology, 2.1 Biological and endogenous factors, Oral and gastrointestinal, Adult, Cholangitis, Sclerosing, Cohort Studies, Disease Progression, Female, Humans, Kaplan-Meier Estimate, Logistic Models, Male, Middle Aged, Polymorphism, Single Nucleotide, Proportional Hazards Models, Thrombospondins, International PSC Study Group, The UK PSC Consortium, Primary sclerosing cholangitis, genetics, liver transplantation, Clinical Sciences, Paediatrics and Reproductive Medicine, Gastroenterology & Hepatology
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
2018

3. Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

Author

Liu, Jimmy Z, Hov, Johannes Roksund, Folseraas, Trine, Ellinghaus, Eva, Rushbrook, Simon M, Doncheva, Nadezhda T, Andreassen, Ole A, Weersma, Rinse K, Weismüller, Tobias J, Eksteen, Bertus, Invernizzi, Pietro, Hirschfield, Gideon M, Gotthardt, Daniel Nils, Pares, Albert, Ellinghaus, David, Shah, Tejas, Juran, Brian D, Milkiewicz, Piotr, Rust, Christian, Schramm, Christoph, Müller, Tobias, Srivastava, Brijesh, Dalekos, Georgios, Nöthen, Markus M, Herms, Stefan, Winkelmann, Juliane, Mitrovic, Mitja, Braun, Felix, Ponsioen, Cyriel Y, Croucher, Peter JP, Sterneck, Martina, Teufel, Andreas, Mason, Andrew L, Saarela, Janna, Leppa, Virpi, Dorfman, Ruslan, Alvaro, Domenico, Floreani, Annarosa, Onengut-Gumuscu, Suna, Rich, Stephen S, Thompson, Wesley K, Schork, Andrew J, Næss, Sigrid, Thomsen, Ingo, Mayr, Gabriele, König, Inke R, Hveem, Kristian, Cleynen, Isabelle, Gutierrez-Achury, Javier, Ricaño-Ponce, Isis, van Heel, David, Björnsson, Einar, Sandford, Richard N, Durie, Peter R, Melum, Espen, Vatn, Morten H, Silverberg, Mark S, Duerr, Richard H, Padyukov, Leonid, Brand, Stephan, Sans, Miquel, Annese, Vito, Achkar, Jean-Paul, Boberg, Kirsten Muri, Marschall, Hanns-Ulrich, Chazouillères, Olivier, Bowlus, Christopher L, Wijmenga, Cisca, Schrumpf, Erik, Vermeire, Severine, Albrecht, Mario, UK-PSCSC Consortium, Rioux, John D, Alexander, Graeme, Bergquist, Annika, Cho, Judy, Schreiber, Stefan, Manns, Michael P, Färkkilä, Martti, Dale, Anders M, Chapman, Roger W, Lazaridis, Konstantinos N, International PSC Study Group, Franke, Andre, Anderson, Carl A, Karlsen, Tom H, and International IBD Genetics Consortium

Subjects
UK-PSCSC Consortium, International PSC Study Group, International IBD Genetics Consortium, Humans, Cholangitis, Sclerosing, Oligonucleotide Array Sequence Analysis, Risk Factors, Case-Control Studies, Gene Frequency, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Genetic Loci, Genetic Pleiotropy, Genotyping Techniques, Developmental Biology, Biological Sciences, Medical and Health Sciences
Abstract

Primary sclerosing cholangitis (PSC) is a severe liver disease of unknown etiology leading to fibrotic destruction of the bile ducts and ultimately to the need for liver transplantation. We compared 3,789 PSC cases of European ancestry to 25,079 population controls across 130,422 SNPs genotyped using the Immunochip. We identified 12 genome-wide significant associations outside the human leukocyte antigen (HLA) complex, 9 of which were new, increasing the number of known PSC risk loci to 16. Despite comorbidity with inflammatory bowel disease (IBD) in 72% of the cases, 6 of the 12 loci showed significantly stronger association with PSC than with IBD, suggesting overlapping yet distinct genetic architectures for these two diseases. We incorporated association statistics from 7 diseases clinically occurring with PSC in the analysis and found suggestive evidence for 33 additional pleiotropic PSC risk loci. Together with network analyses, these findings add to the genetic risk map of PSC and expand on the relationship between PSC and other immune-mediated diseases.

Published
2013

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