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The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia
Christel M Middeldorp, Janine F Felix, Anubha Mahajan, EArly Genetics Lifecourse Epidemiology (EAGLE) consortium, Early Growth Genetics (EGG) Consortium, Mark I McCarthy
Jul 18, 2019
The impact of many unfavorable childhood traits or diseases, such as low birth weight and mental disorders, is not limited to childhood and adolescence, as they are also associated with poor outcomes in adulthood, such as...
Consensus for genes to be included on cancer panel tests offered by UK genetics services
Amy Taylor, Angela F Brady, Ian M Frayling, Helen Hanson, Marc Tischkowitz, Clare Turnbull, Lucy Side, UK Cancer Genetics Group (UK-CGG)
May 18, 2018
Genetic testing for hereditary cancer predisposition has evolved rapidly in recent years with the discovery of new genes, but there is much debate over the clinical utility of testing genes for which there are currently limited...
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease.
Amit V Khera, Hong-Hee Won, Gina M Peloso, Colm O'Dushlaine, Dajiang Liu, Nathan O Stitziel, Pradeep Natarajan, Akihiro Nomura, Connor A Emdin, Namrata Gupta, Ingrid B Borecki, Rosanna Asselta, Stefano Duga, Piera Angelica Merlini, Adolfo Correa, Thorsten Kessler, James G Wilson, Matthew J Bown, Alistair S Hall, Peter S Braund, David J Carey, Michael F Murray, H Lester Kirchner, Joseph B Leader, Daniel R Lavage, J Neil Manus, Dustin N Hartzel, Nilesh J Samani, Heribert Schunkert, Jaume Marrugat, Roberto Elosua, Ruth McPherson, Martin Farrall, Hugh Watkins, Eric S Lander, Daniel J Rader, John Danesh, Diego Ardissino, Stacey Gabriel, Cristen Willer, Gonçalo R Abecasis, Danish Saleheen, Frederick E Dewey, Sekar Kathiresan, DiscovEHR Study Group, CARDIoGRAM Exome Consortium, and Global Lipids Genetics Consortium Myocardial Infarction Genetics Consortium
Jun 25, 2018
IMPORTANCE: The activity of lipoprotein lipase (LPL) is the rate-determining step in clearing triglyceride-rich lipoproteins from the circulation. Mutations that damage the LPL gene (LPL) lead to lifelong deficiency in enzymatic...
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
Derek Klarin, Scott M Damrauer, Kelly Cho, Yan V Sun, Tanya M Teslovich, Jacqueline Honerlaw, David R Gagnon, Scott L DuVall, Jin Li, Gina M Peloso, Mark Chaffin, Aeron M Small, Jie Huang, Hua Tang, Julie A Lynch, Yuk-Lam Ho, Dajiang J Liu, Connor A Emdin, Alexander H Li, Jennifer E Huffman, Jennifer S Lee, Pradeep Natarajan, Rajiv Chowdhury, Danish Saleheen, Marijana Vujkovic, Aris Baras, Saiju Pyarajan, Emanuele Di Angelantonio, Benjamin M Neale, Aliya Naheed, Amit V Khera, John Danesh, Kyong-Mi Chang, Gonçalo Abecasis, Cristen Willer, Frederick E Dewey, David J Carey, Global Lipids Genetics Consortium, Myocardial Infarction Genetics (MIGen) Consortium, Geisinger-Regeneron DiscovEHR Collaboration, VA Million Veteran Program, John Concato, J Michael Gaziano, Christopher J O'Donnell, Philip S Tsao, Sekar Kathiresan, Daniel J Rader, Peter WF Wilson, Themistocles L Assimes
Sep 08, 2018
The Million Veteran Program (MVP) was established in 2011 as a national research initiative to determine how genetic variation influences the health of US military veterans. Here we genotyped 312,571 MVP participants using a...
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
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
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...
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
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...
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...
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
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...
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...
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
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...
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...
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...
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...
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...
Genome-wide meta-analysis identifies 3 novel loci associated with stroke.
Rainer Malik, Kristiina Rannikmäe, Matthew Traylor, Marios K Georgakis, Muralidharan Sargurupremraj, Hugh S Markus, Jemma C Hopewell, Stephanie Debette, Cathie LM Sudlow, Martin Dichgans, MEGASTROKE consortium and the International Stroke Genetics Consortium
Dec 21, 2018
We conducted a European-only and transancestral genome-wide association meta-analysis in 72,147 stroke patients and 823,869 controls using data from UK Biobank (UKB) and the MEGASTROKE consortium. We identified an exonic...
Confirmation of novel type 1 diabetes risk loci in families.
JD Cooper, JMM Howson, D Smyth, NM Walker, H Stevens, JHM Yang, J-X She, GS Eisenbarth, M Rewers, JA Todd, B Akolkar, P Concannon, HA Erlich, C Julier, G Morahan, J Nerup, C Nierras, F Pociot, SS Rich, Type 1 Diabetes Genetics Consortium
Jul 09, 2019
AIMS/HYPOTHESIS: Over 50 regions of the genome have been associated with type 1 diabetes risk, mainly using large case/control collections. In a recent genome-wide association (GWA) study, 18 novel susceptibility loci were...
Stability Analysis of EPC Consortium Cooperation Based on Evolutionary Game
Consortium contracting is a contracting model that China encourages and advocates. Due to the interest drive, members within the consortium are very prone to negative cooperation and midway withdrawal, which hinders the healthy...
Published by: IGI Global Scientific Publishing
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