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Results: 64129
Cross-phenotype analysis of Immunochip data identifies KDM4C as a relevant locus for the development of systemic vasculitis.
Lourdes Ortiz-Fernández, Francisco David Carmona, Raquel López-Mejías, Maria Francisca González-Escribano, Paul A Lyons, Ann W Morgan, Amr H Sawalha, Peter A Merkel, Kenneth GC Smith, Miguel A González-Gay, Javier Martín, UK GCA Consortium, Turkish Takayasu Study Group, Vasculitis Clinical Research Consortium, IgAV Study Group, AAV Study group Spanish GCA Study Group
Apr 18, 2018
OBJETIVE: Systemic vasculitides represent a heterogeneous group of rare complex diseases of the blood vessels with a poorly understood aetiology. To investigate the shared genetic component underlying their predisposition, we...
Autoantibodies outcomes research systemic sclerosis Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis Case-Control Studies Epigenesis Genetic Female Genetic Loci Genetic Predisposition to Disease Giant Cell Arteritis HLA-DQ Antigens HLA-DQ beta-Chains Humans Jumonji Domain-Containing Histone Demethylases Linkage Disequilibrium Male Phenotype Polymorphism Single Nucleotide Protein Array Analysis Systemic Vasculitis Takayasu arteritis
NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease.
T Schwerd, RV Bryant, S Pandey, M Capitani, L Meran, J-B Cazier, J Jung, K Mondal, M Parkes, CG Mathew, K Fiedler, DJ McCarthy, WGS500 Consortium, Oxford IBD cohort study investigators, COLORS in IBD group investigators, UK IBD Genetics Consortium, PB Sullivan, A Rodrigues, SPL Travis, C Moore, J Sambrook, WH Ouwehand, DJ Roberts, J Danesh, INTERVAL Study, RK Russell, DC Wilson, JR Kelsen, R Cornall, LA Denson, S Kugathasan, UG Knaus, EG Serra, CA Anderson, RH Duerr, D Pb McGovern, J Cho, F Powrie, V Sw Li, AM Muise, HH Uhlig
Feb 05, 2018
Genetic defects that affect intestinal epithelial barrier function can present with very early-onset inflammatory bowel disease (VEOIBD). Using whole-genome sequencing, a novel hemizygous defect in NOX1 encoding NAPDH oxidase 1...
Animals Child Child Preschool Colon Genes Modifier Genetic Association Studies Genetic Predisposition to Disease Genome Genotype High-Throughput Nucleotide Sequencing Host-Pathogen Interactions Humans Inflammatory Bowel Diseases Male Mice Mice Inbred C57BL Mutation Missense NADPH Oxidase 1 Polymorphism Single Nucleotide Reactive Oxygen Species
Cross sectional evaluation of the gut-microbiome metabolome axis in an Italian cohort of IBD patients.
Maria Laura Santoru, Cristina Piras, Antonio Murgia, Vanessa Palmas, Tania Camboni, Sonia Liggi, Ivan Ibba, Maria Antonia Lai, Sandro Orrù, Sylvain Blois, Anna Lisa Loizedda, Julian Leether Griffin, Paolo Usai, Pierluigi Caboni, Luigi Atzori, Aldo Manzin
Jun 15, 2018
Inflammatory bowel disease (IBD) is a chronic inflammatory disease of the gastrointestinal tract of uncertain origin, which includes ulcerative colitis (UC) and Crohn's disease (CD). The composition of gut microbiota may change...
The Typhoid Vaccine Acceleration Consortium (TyVAC): Vaccine effectiveness study designs
Typhoid fever is estimated to cause between 11.9-26.9 million infections globally each year with 129,000-216,510 deaths. Access to improved water sources have reduced disease incidence in parts of the world but the use of...
The International Human Epigenome Consortium
The International Human Epigenome Consortium (IHEC) coordinates the generation of a catalog of high-resolution reference epigenomes of major primary human cell types. The studies now presented (see the Cell Press IHEC web portal...
Height, selected genetic markers and prostate cancer risk
Artitaya Lophatananon, Sarah Stewart-Brown, Zsofia Kote-Jarai, Ali Amin Al Olama, Sara Benlloch Garcia, David E Neal, Freddie C Hamdy, Jenny L Donovan, Graham G Giles, Liesel M Fitzgerald, Melissa C Southey, Paul Pharoah, Nora Pashayan, Henrik Gronberg, Fredrik Wiklund, Markus Aly, Janet L Stanford, Hermann Brenner, Aida K Dieffenbach, Volker Arndt, Jong Y Park, Hui-Yi Lin, Thomas Sellers, Chavdar Slavov, Radka Kaneva, Vanio Mitev, Jyotsna Batra, Amanda Spurdle, Judith A Clements, APCB BioResource, PRACTICAL Consortium, Douglas Easton, Rosalind A Eeles, Kenneth Muir
Dec 08, 2017
BACKGROUND: Evidence on height and prostate cancer risk is mixed, however, recent studies with large data sets support a possible role for its association with the risk of aggressive prostate cancer. METHODS: We analysed data...
High-density mapping of the MHC identifies a shared role for HLA-DRB1*01
Philippe Goyette, Gabrielle Boucher, Dermot Mallon, Eva Ellinghaus, Luke Jostins, Hailiang Huang, Stephan Ripke, Elena S Gusareva, Vito Annese, Stephen L Hauser, Jorge R Oksenberg, Ingo Thomsen, Stephen Leslie, International Inflammatory Bowel Disease Genetics Consortium, Australia and New Zealand IBDGC, Belgium IBD Genetics Consortium, Italian Group for IBD Genetic Consortium, NIDDK Inflammatory Bowel Disease Genetics Consortium, United Kingdom IBDGC, Wellcome Trust Case Control Consortium, Quebec IBD Genetics Consortium, Mark J Daly, Kristel Van Steen, Richard H Duerr, Jeffrey C Barrett, Dermot PB McGovern, L Philip Schumm, James A Traherne, Mary N Carrington, Vasilis Kosmoliaptsis, Tom H Karlsen, Andre Franke, John D Rioux
Aug 11, 2015
Alleles Chromosome Mapping Colitis Ulcerative Crohn Disease Genetic Linkage Genetic Predisposition to Disease Genome-Wide Association Study Genotype Genotyping Techniques HLA-DRB1 Chains Heterozygote Humans Inflammatory Bowel Diseases Major Histocompatibility Complex Phenotype Polymorphism Single Nucleotide
ImmUniverse Consortium
Stefania Vetrano, Gerben Bouma, Robert J Benschop, Thomas Birngruber, Antonio Costanzo, GRAM D'Haens, Loredana Frasca, Rainer Hillenbrand, Lars Iversen, Claus Johansen, Arthur Kaser, Hans JPM Koenen, Christa Noehammer, Laurent Peyrin-Biroulet, Jeroen Raes, Leonardo Ricotti, Philip Rosenstiel, Venkata P Satagopam, Stefan Schreiber, Severine Vermeire, Andreas Wollenberg, Stephan Weidinger, Daniel Ziemek, Silvio Danese, ImmUniverse Consortium
Jan 04, 2023
Immune mediated inflammatory diseases (IMIDs) are a heterogeneous group of debilitating, multifactorial and unrelated conditions featured by a dysregulated immune response leading to destructive chronic inflammation. The immune...
IBD considerations in spondyloarthritis.
Spondyloarthritis (SpA) may be regarded a family of auto-inflammatory conditions with inflammation focused on the joints. These form part of a wider family of immune-mediated inflammatory diseases, which include inflammatory...
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.
Jimmy Z Liu, Johannes Roksund Hov, Trine Folseraas, Eva Ellinghaus, Simon M Rushbrook, Nadezhda T Doncheva, Ole A Andreassen, Rinse K Weersma, Tobias J Weismüller, Bertus Eksteen, Pietro Invernizzi, Gideon M Hirschfield, Daniel Nils Gotthardt, Albert Pares, David Ellinghaus, Tejas Shah, Brian D Juran, Piotr Milkiewicz, Christian Rust, Christoph Schramm, Tobias Müller, Brijesh Srivastava, Georgios Dalekos, Markus M Nöthen, Stefan Herms, Juliane Winkelmann, Mitja Mitrovic, Felix Braun, Cyriel Y Ponsioen, Peter JP Croucher, Martina Sterneck, Andreas Teufel, Andrew L Mason, Janna Saarela, Virpi Leppa, Ruslan Dorfman, Domenico Alvaro, Annarosa Floreani, Suna Onengut-Gumuscu, Stephen S Rich, Wesley K Thompson, Andrew J Schork, Sigrid Næss, Ingo Thomsen, Gabriele Mayr, Inke R König, Kristian Hveem, Isabelle Cleynen, Javier Gutierrez-Achury, Isis Ricaño-Ponce, David van Heel, Einar Björnsson, Richard N Sandford, Peter R Durie, Espen Melum, Morten H Vatn, Mark S Silverberg, Richard H Duerr, Leonid Padyukov, Stephan Brand, Miquel Sans, Vito Annese, Jean-Paul Achkar, Kirsten Muri Boberg, Hanns-Ulrich Marschall, Olivier Chazouillères, Christopher L Bowlus, Cisca Wijmenga, Erik Schrumpf, Severine Vermeire, Mario Albrecht, UK-PSCSC Consortium, John D Rioux, Graeme Alexander, Annika Bergquist, Judy Cho, Stefan Schreiber, Michael P Manns, Martti Färkkilä, Anders M Dale, Roger W Chapman, Konstantinos N Lazaridis, International PSC Study Group, Andre Franke, Carl A Anderson, Tom H Karlsen, International IBD Genetics Consortium
Feb 05, 2021
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...
Thiopurine monotherapy is effective in ulcerative colitis but significantly less so in Crohn's disease
Evangelos Stournaras, Wendi Qian, Apostolos Pappas, You Yi Hong, Rasha Shawky, UK IBD BioResource Investigators, Tim Raine, Miles Parkes, UK IBD Bioresource Investigators
Jul 20, 2020
OBJECTIVE: Thiopurines are widely used as maintenance therapy in inflammatory bowel disease (IBD) but the evidence base for their use is sparse and their role increasingly questioned. Using the largest series reported to date...
Gene Ontology Consortium
Gene Ontology Consortium
May 06, 2020
The Gene Ontology (GO; http://www.geneontology.org) is a community-based bioinformatics resource that supplies information about gene product function using ontologies to represent biological knowledge. Here we describe...
A water footprint review of Italian wine
Wine constitutes the dominant Italian agricultural product with respect to both production quantity and economic value. Italy is the top wine producer worldwide in terms of volume and the second one below France in terms...
The SPECTRUM Consortium
M Horton, PR Perman-Howe, C Angus, J Bishop, I Bogdanovica, A Brennan, J Britton, LS Brose, J Brown, J Collin, M Dockrell, N Fitzgerald, S Friel, D Gillespie, AB Gilmore, SE Hill, C Knai, T Langley, S Martin, A McNeill, G Moore, MR Munafò, RL Murray, M Opazo Breton, J Pearce, M Petticrew, G Reid, D Robson, H Rutter, L Shahab, N Shortt, K Smith, K Syrett, L Bauld
Dec 31, 2021
The main causes of non-communicable diseases (NCDs), health inequalities and health inequity include consumption of unhealthy commodities such as tobacco, alcohol and/or foods high in fat, salt and/or sugar. These exposures...
The SPECTRUM Consortium
M Horton, PR Perman-Howe, C Angus, J Bishop, I Bogdanovica, A Brennan, J Britton, LS Brose, J Brown, J Collin, M Dockrell, N Fitzgerald, S Friel, D Gillespie, AB Gilmore, SE Hill, C Knai, T Langley, S Martin, A McNeill, G Moore, MR Munafò, RL Murray, M Opazo Breton, J Pearce, M Petticrew, G Reid, D Robson, H Rutter, L Shahab, N Shortt, K Smith, K Syrett, L Bauld
Dec 31, 2021
The main causes of non-communicable diseases (NCDs), health inequalities and health inequity include consumption of unhealthy commodities such as tobacco, alcohol and/or foods high in fat, salt and/or sugar. These exposures...
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Sigurgeir Olafsson, Rebecca E McIntyre, Tim Coorens, Timothy Butler, Hyunchul Jung, Philip S Robinson, Henry Lee-Six, Mathijs A Sanders, Kenneth Arestang, Claire Dawson, Monika Tripathi, Konstantina Strongili, Yvette Hooks, Michael R Stratton, Miles Parkes, Inigo Martincorena, Tim Raine, Peter J Campbell, Carl A Anderson
Jan 18, 2021
Inflammatory bowel disease (IBD) is a chronic inflammatory disease associated with increased risk of gastrointestinal cancers. We whole-genome sequenced 446 colonic crypts from 46 IBD patients and compared these to 412 crypts...
Crohn's Disease IL17 PIGR ZC3H12A inflammatory bowel disease intestinal epithelia Mutation Rate mutational signatures somatic mutations Ulcerative colitis Adult Aged Aged 80 and over aging Clonal Evolution Colitis Colitis Ulcerative Crohn Disease DNA-Binding Proteins Epithelial Cells F-Box-WD Repeat-Containing Protein 7 Female Humans INDEL Mutation Inflammatory Bowel Diseases Interleukin-17 Intestinal Mucosa Male Middle Aged Mutation Rate Phylogeny Point Mutation Receptors Cell Surface Ribonucleases Toll-Like Receptors Transcription Factors whole genome sequencing
Moving towards more patient-centred clinical trials in IBD.
Declining recruitment rates in inflammatory bowel disease (IBD) trials have resulted in calls to modify the conduct of trials in IBD in order to make them more efficient and patient centred. Here, we propose a number of...
covid-19 Clinical Trials as Topic Humans Inflammatory Bowel Diseases Informed Consent Patient Acceptance of Health Care Patient Outcome Assessment Patient Reported Outcome Measures patient satisfaction Patient Selection Patient-Centered Care SARS-CoV-2 Self-testing Telemedicine Therapeutic Equipoise
Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.
Sun-Gou Ji, Brian D Juran, Sören Mucha, Trine Folseraas, Luke Jostins, Espen Melum, Natsuhiko Kumasaka, Elizabeth J Atkinson, Erik M Schlicht, Jimmy Z Liu, Tejas Shah, Javier Gutierrez-Achury, Kirsten M Boberg, Annika Bergquist, Severine Vermeire, Bertus Eksteen, Peter R Durie, Martti Farkkila, Tobias Müller, Christoph Schramm, Martina Sterneck, Tobias J Weismüller, Daniel N Gotthardt, David Ellinghaus, Felix Braun, Andreas Teufel, Mattias Laudes, Wolfgang Lieb, Gunnar Jacobs, Ulrich Beuers, Rinse K Weersma, Cisca Wijmenga, Hanns-Ulrich Marschall, Piotr Milkiewicz, Albert Pares, Kimmo Kontula, Olivier Chazouillères, Pietro Invernizzi, Elizabeth Goode, Kelly Spiess, Carmel Moore, Jennifer Sambrook, Willem H Ouwehand, David J Roberts, John Danesh, Annarosa Floreani, Aliya F Gulamhusein, John E Eaton, Stefan Schreiber, Catalina Coltescu, Christopher L Bowlus, Velimir A Luketic, Joseph A Odin, Kapil B Chopra, Kris V Kowdley, Naga Chalasani, Michael P Manns, Brijesh Srivastava, George Mells, Richard N Sandford, Graeme Alexander, Daniel J Gaffney, Roger W Chapman, Gideon M Hirschfield, Mariza de Andrade, UK-PSC Consortium, International IBD Genetics Consortium, International PSC Study Group, Simon M Rushbrook, Andre Franke, Tom H Karlsen, Konstantinos N Lazaridis, Carl A Anderson
Nov 21, 2017
Primary sclerosing cholangitis (PSC) is a rare progressive disorder leading to bile duct destruction; ∼75% of patients have comorbid inflammatory bowel disease (IBD). We undertook the largest genome-wide association study of PSC...
The Italian family, motherhood and Italianness in New Zealand. The case of the Italian community of Wellington
Adalgisa Giorgio
Sep 09, 2015
Recent studies of the Italian diaspora have examined the role of migrant families in constructing Italian identities. The mother’s role is normally that of reproducing and guarding Italian morality. Different scenarios are also...
Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.
Phuwanat Sakornsakolpat, Dmitry Prokopenko, Maxime Lamontagne, Nicola F Reeve, Anna L Guyatt, Victoria E Jackson, Nick Shrine, Dandi Qiao, Traci M Bartz, Deog Kyeom Kim, Mi Kyeong Lee, Jeanne C Latourelle, Xingnan Li, Jarrett D Morrow, Ma'en Obeidat, Annah B Wyss, Per Bakke, R Graham Barr, Terri H Beaty, Steven A Belinsky, Guy G Brusselle, James D Crapo, Kim de Jong, Dawn L DeMeo, Tasha E Fingerlin, Sina A Gharib, Amund Gulsvik, Ian P Hall, John E Hokanson, Woo Jin Kim, David A Lomas, Stephanie J London, Deborah A Meyers, George T O'Connor, Stephen I Rennard, David A Schwartz, Pawel Sliwinski, David Sparrow, David P Strachan, Ruth Tal-Singer, Yohannes Tesfaigzi, Jørgen Vestbo, Judith M Vonk, Jae-Joon Yim, Xiaobo Zhou, Yohan Bossé, Ani Manichaikul, Lies Lahousse, Edwin K Silverman, H Marike Boezen, Louise V Wain, Martin D Tobin, Brian D Hobbs, Michael H Cho, SpiroMeta Consortium, International COPD Genetics Consortium
Jan 13, 2020
Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality worldwide. Genetic risk loci provide new insights into disease pathogenesis. We performed a genome-wide association study in 35,735 cases...
Sources of excess steroid prescriptions and clinical adverse outcomes associated with steroid excess in patients with inflammatory bowel disease
Konstantina Rosiou, Jenelyn Carbonell, Vivien Dolby, Niloufar Monfared, Tim Raine, Christian P Selinger
May 25, 2022
BACKGROUND: Corticosteroids remain important for managing inflammatory bowel disease (IBD) flares. Steroid excess, however, may be a marker of poor care. Patients access steroid prescriptions from primary (General Practitioners...
Highlights in IBD Epidemiology and Its Natural History in the Paediatric Age.
Background. The number of patients of all age brackets diagnosed with Inflammatory Bowel Disease (IBD) has risen dramatically worldwide over the past 50 years. IBD's changing epidemiology suggests that environmental factors play...
Surveillance recommendations for DICER1 pathogenic variant carriers
Jette J Bakhuizen, Helen Hanson, Karin van der Tuin, Fiona Lalloo, Marc Tischkowitz, Karin Wadt, Marjolijn CJ Jongmans, SIOPE Host Genome Working Group, CanGene-CanVar Clinical Guideline Working Group, Expert Network Members
Oct 01, 2021
DICER1 syndrome is a rare genetic disorder that predisposes to a wide spectrum of tumors. Developing surveillance protocols for this syndrome is challenging because uncertainty exists about the clinical efficacy of surveillance...
IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.
Yukihide Momozawa, Julia Dmitrieva, Emilie Théâtre, Valérie Deffontaine, Souad Rahmouni, Benoît Charloteaux, François Crins, Elisa Docampo, Mahmoud Elansary, Ann-Stephan Gori, Christelle Lecut, Rob Mariman, Myriam Mni, Cécile Oury, Ilya Altukhov, Dmitry Alexeev, Yuri Aulchenko, Leila Amininejad, Gerd Bouma, Frank Hoentjen, Mark Löwenberg, Bas Oldenburg, Marieke J Pierik, Andrea E Vander Meulen-de Jong, C Janneke van der Woude, Marijn C Visschedijk, International IBD Genetics Consortium, Mark Lathrop, Jean-Pierre Hugot, Rinse K Weersma, Martine De Vos, Denis Franchimont, Severine Vermeire, Michiaki Kubo, Edouard Louis, Michel Georges
Mar 28, 2019
GWAS have identified >200 risk loci for Inflammatory Bowel Disease (IBD). The majority of disease associations are known to be driven by regulatory variants. To identify the putative causative genes that are perturbed by these...
Adult Aged Aged 80 and over Cohort Studies Crohn Disease Female Gene Expression Profiling Genetic Association Studies Genetic Predisposition to Disease Genotype Humans Inflammatory Bowel Diseases Male Middle Aged Multifactorial Inheritance Polymorphism Single Nucleotide Quantitative Trait Loci Sequence Analysis DNA
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