Search
Results: 96858
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
Heather J Cordell, Younghun Han, George F Mells, Yafang Li, Gideon M Hirschfield, Casey S Greene, Gang Xie, Brian D Juran, Dakai Zhu, David C Qian, James AB Floyd, Katherine I Morley, Daniele Prati, Ana Lleo, Daniele Cusi, Canadian-US PBC Consortium, Italian PBC Genetics Study Group, UK-PBC Consortium, M Eric Gershwin, Carl A Anderson, Konstantinos N Lazaridis, Pietro Invernizzi, Michael F Seldin, Richard N Sandford, Christopher I Amos, Katherine A Siminovitch
Dec 02, 2020
Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of...
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
George F Mells, James AB Floyd, Katherine I Morley, Heather J Cordell, Christopher S Franklin, So-Youn Shin, Michael A Heneghan, James M Neuberger, Peter T Donaldson, Darren B Day, Samantha J Ducker, Agnes W Muriithi, Elizabeth F Wheater, Christopher J Hammond, Muhammad F Dawwas, UK PBC Consortium, Wellcome Trust Case Control Consortium 3, David E Jones, Leena Peltonen, Graeme J Alexander, Richard N Sandford, Carl A Anderson
Dec 15, 2020
In addition to the HLA locus, six genetic risk factors for primary biliary cirrhosis (PBC) have been identified in recent genome-wide association studies (GWAS). To identify additional loci, we carried out a GWAS using 1,840...
Adaptive Immunity B7-1 Antigen Case-Control Studies Cohort Studies Databases Genetic Death Domain Receptor Signaling Adaptor Proteins Female Genetic Predisposition to Disease Genome-Wide Association Study Guanine Nucleotide Exchange Factors Humans Immunity Innate Lectins C-Type Linkage Disequilibrium Liver Cirrhosis Biliary Male Monosaccharide Transport Proteins NF-kappa B p50 Subunit Polymorphism Single Nucleotide Receptors CXCR5 Receptors Interleukin-7 Receptors Tumor Necrosis Factor Type I Risk Factors STAT4 Transcription Factor
The inter-relationship of symptom severity and quality of life in 2055 patients with primary biliary cholangitis.
JK Dyson, N Wilkinson, L Jopson, G Mells, A Bathgate, MA Heneghan, J Neuberger, GM Hirschfield, SJ Ducker, UK-PBC Consortium, R Sandford, G Alexander, D Stocken, DEJ Jones
Nov 20, 2017
BACKGROUND: Age at presentation with primary biliary cholangitis (PBC) is associated with differential response to ursodeoxycholic acid (UDCA) therapy. Younger-presenting patients are less likely to respond to treatment and more...
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
Jimmy Z Liu, Mohamed A Almarri, Daniel J Gaffney, George F Mells, Luke Jostins, Heather J Cordell, Samantha J Ducker, Darren B Day, Michael A Heneghan, James M Neuberger, Peter T Donaldson, Andrew J Bathgate, Andrew Burroughs, Mervyn H Davies, David E Jones, Graeme J Alexander, Jeffrey C Barrett, Richard N Sandford, Carl A Anderson, UK Primary Biliary Cirrhosis (PBC) Consortium, Wellcome Trust Case Control Consortium 3
Feb 05, 2021
We genotyped 2,861 cases of primary biliary cirrhosis (PBC) from the UK PBC Consortium and 8,514 UK population controls across 196,524 variants within 186 known autoimmune risk loci. We identified 3 loci newly associated with...
Adaptor Proteins Signal Transducing Case-Control Studies Chromosome Mapping Chromosomes Human Pair 19 Gene Frequency Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study Genotype HLA Antigens Humans Intracellular Signaling Peptides and Proteins Linkage Disequilibrium Liver Cirrhosis Biliary Polymorphism Single Nucleotide Proteins Regression Analysis Sequence Analysis DNA TYK2 Kinase
Pretreatment prediction of response to ursodeoxycholic acid in primary biliary cholangitis
Marco Carbone, Alessandra Nardi, Steve Flack, Guido Carpino, Nikoletta Varvaropoulou, Caius Gavrila, Ann Spicer, Jonathan Badrock, Francesca Bernuzzi, Vincenzo Cardinale, Holly F Ainsworth, Michael A Heneghan, Douglas Thorburn, Andrew Bathgate, Rebecca Jones, James M Neuberger, Pier Maria Battezzati, Massimo Zuin, Simon Taylor-Robinson, Maria F Donato, John Kirby, Robert Mitchell-Thain, Annarosa Floreani, Fotios Sampaziotis, Luigi Muratori, Domenico Alvaro, Marco Marzioni, Luca Miele, Fabio Marra, Edoardo Giannini, Eugenio Gaudio, Vincenzo Ronca, Giulia Bonato, Laura Cristoferi, Federica Malinverno, Alessio Gerussi, Deborah D Stocken, Heather J Cordell, Gideon M Hirschfield, Graeme J Alexander, Richard N Sandford, David E Jones, Pietro Invernizzi, George F Mells, Italian PBC Study Group and the UK–PBC Consortium
Feb 05, 2021
BACKGROUND: Treatment guidelines recommend a stepwise approach to primary biliary cholangitis: all patients begin treatment with ursodeoxycholic acid (UDCA) monotherapy and those with an inadequate biochemical response after 12...
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
Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel–Lindau Disease
Hugh Furness, Louay Salfity, Johanna Devereux, Dorothy Halliday, Helen Hanson, Deborah M. Ruddy, UK VHL Study Group UK VHL Study Group, Neha Shah, George Sultana, Emma R. Woodward, Richard N. Sandford, Katie M. Snape, Eamonn R. Maher
Sep 17, 2021
Haemangioblastomas are rare, highly vascularised tumours that typically occur in the cerebellum, brain stem and spinal cord. Up to a third of individuals with a haemangioblastoma will have von Hippel–Lindau (VHL) disease....
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...
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...
A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank.
Xueyi Shen, David M Howard, Mark J Adams, W David Hill, Toni-Kim Clarke, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Ian J Deary, Heather C Whalley, Andrew M McIntosh
May 08, 2021
Depression is a leading cause of worldwide disability but there remains considerable uncertainty regarding its neural and behavioural associations. Here, using non-overlapping Psychiatric Genomics Consortium (PGC) datasets as a...
Gestational diabetes
Ponnusamy Saravanan, Diabetes in Pregnancy Working Group, Maternal Medicine Clinical Study Group, UK Royal College of Obstetricians and Gynaecologists
Apr 30, 2021
Gestational diabetes, the most common medical disorder in pregnancy, is defined as glucose intolerance resulting in hyperglycaemia that begins or is first diagnosed in pregnancy. Gestational diabetes is associated with increased...
Early mobilisation and rehabilitation in the PICU
Jacqueline Y Thompson, Julie C Menzies, Joseph C Manning, Jennifer McAnuff, Emily Clare Brush, Francesca Ryde, Tim Rapley, Nazima Pathan, Stephen Brett, David J Moore, Michelle Geary, Gillian A Colville, Kevin P Morris, Roger Charles Parslow, Richard G Feltbower, Sophie Lockley, Fenella J Kirkham, Rob J Forsyth, Barnaby R Scholefield, Paediatric Critical Care Society Study-Group PCCS-SG Paediatric Critical Care Society Study-Group PCCS-SG the PERMIT Collaborators
Jul 18, 2022
Objective
To understand the context and professional perspectives of delivering early rehabilitation and mobilisation (ERM) within UK paediatric intensive care units (PICUs).Design
A web-based survey...
Published by: BMJ paediatrics open
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...
Alcohol Commercial determinants Inequalities Non-communicable disease Policy Prevention Public Health Tobacco Unhealthy commodities /dk/atira/pure/subjectarea/asjc/2700/2701 name=Medicine (miscellaneous) /dk/atira/pure/subjectarea/asjc/1300/1300 name=General Biochemistry,Genetics and Molecular Biology /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being name=SDG 3 - Good Health and Well-being
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...
Alcohol Commercial determinants Inequalities Non-communicable disease Policy Prevention Public Health Tobacco Unhealthy commodities /dk/atira/pure/subjectarea/asjc/2700/2701 name=Medicine (miscellaneous) /dk/atira/pure/subjectarea/asjc/1300/1300 name=General Biochemistry,Genetics and Molecular Biology /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being name=SDG 3 - Good Health and Well-being
A Modified Progressive Supranuclear Palsy Rating Scale.
Marie-Therese Grötsch, Gesine Respondek, Carlo Colosimo, Yaroslau Compta, Jean Christophe Corvol, Joaquim Ferreira, Meret Koroni Huber, Martin Klietz, Lea FM Krey, Johannes Levin, Milica Jecmenica-Lukic, Daniel Macías-García, Wassilios G Meissner, Pablo Mir, Huw Morris, Christer Nilsson, James B Rowe, Klaus Seppi, Maria Stamelou, John C van Swieten, Gregor Wenning, Teodoro del Ser, Lawrence I Golbe, Günter U Höglinger, the ProPSP Study Group, and the Movement Disorder Society-Endorsed PSP Study Group Describe PSP Study Group
Jan 26, 2021
BACKGROUND: The Progressive Supranuclear Palsy Rating Scale is a prospectively validated physician-rated measure of disease severity for progressive supranuclear palsy. We hypothesized that, according to experts' opinion...
Composite Measures for Clinical Trials in Psoriatic Arthritis
William Tillett, Oliver FitzGerald, Laura C Coates, Jon Packham, Deepak R Jadon, Marco Massarotti, Mel Brook, Suzanne Lane, Paul Creamer, Anna Antony, Eleanor Korendowych, Adwaye Rambojun, Neil J McHugh, Philip S Helliwell, and Philip S. Helliwell on behalf of the PROMPT Study Group
Aug 02, 2021
OBJECTIVE: To test the addition of pain and fatigue to the Composite Psoriatic Arthritis Disease Activity (CPDAI) and the Group for Research and Assessment of Psoriasis and PsA (GRAPPA) Composite Exercise (GRACE) composite...
The United Kingdom Childhood Cancer Study
UK Childhood Cancer Study Investigators
Feb 21, 2020
An investigation into the possible causes of childhood cancer has been carried out throughout England, Scotland and Wales over the period 1991-1998. All children known to be suffering from one or other type of the disease over...
Investigation of associations between retinal microvascular parameters and albuminuria in UK Biobank
Euan N Paterson, Chris Cardwell, Thomas J MacGillivray, Emanuele Trucco, Alexander S Doney, Paul Foster, Alexander P Maxwell, Gareth J McKay, UK Biobank Eye and Vision Consortium
May 10, 2021
BACKGROUND: Associations between microvascular variation and chronic kidney disease (CKD) have been reported previously. Non-invasive retinal fundus imaging enables evaluation of the microvascular network and may offer insight...
Current opportunities to catalyze research in nutrition and cancer prevention – an interdisciplinary perspective
The Cancer Research UK - Ludwig Cancer Research Nutrition and Cancer Prevention Collaborative Group
Jul 31, 2019
Cancer Research UK and Ludwig Cancer Research convened an inaugural international Cancer Prevention and Nutrition Conference in London on December 3–4, 2018. Much of the discussion focused on the need for systematic...
cancer prevention Developmental origins Diet EPIDEMIOLOGY epigenetics interdisciplinary metabolism Nutrition obesity physical activity Public Health Biomedical Research Body Weight Congresses as Topic Diet Exercise food Humans Interdisciplinary Communication Interdisciplinary Research Neoplasms Nutrition Therapy Nutritional Status obesity Risk Factors United Kingdom
Genetic basis of lacunar stroke
Matthew Traylor, Elodie Persyn, Liisa Tomppo, Sofia Klasson, Vida Abedi, Mark K Bakker, Nuria Torres, Linxin Li, Steven Bell, Loes Rutten-Jacobs, Daniel J Tozer, Christoph J Griessenauer, Yanfei Zhang, Annie Pedersen, Pankaj Sharma, Jordi Jimenez-Conde, Tatjana Rundek, Raji P Grewal, Arne Lindgren, James F Meschia, Veikko Salomaa, Aki Havulinna, Christina Kourkoulis, Katherine Crawford, Sandro Marini, Braxton D Mitchell, Steven J Kittner, Jonathan Rosand, Martin Dichgans, Christina Jern, Daniel Strbian, Israel Fernandez-Cadenas, Ramin Zand, Ynte Ruigrok, Natalia Rost, Robin Lemmens, Peter M Rothwell, Christopher D Anderson, Joanna Wardlaw, Cathryn M Lewis, Hugh S Markus, Study Dutch Parelsnoer Institute-Cerebrovascular Accident (CVA) Study Group Helsinki Stroke, National Institute of Neurological Disorders and Stroke (NINDS) Stroke Genetics Network, UK DNA Lacunar Stroke Study Investigators, International Stroke Genetics Consortium
Apr 01, 2021
BACKGROUND: The genetic basis of lacunar stroke is poorly understood, with a single locus on 16q24 identified to date. We sought to identify novel associations and provide mechanistic insights into the disease. METHODS: We did a...
Cancer Variant Interpretation Group UK (CanVIG-UK)
Alice Garrett, Alison Callaway, Miranda Durkie, Cankut Cubuk, Mary Alikian, George J Burghel, Rachel Robinson, Louise Izatt, Sabrina Talukdar, Lucy Side, Treena Cranston, Sheila Palmer-Smith, Diana Baralle, Ian R Berry, James Drummond, Andrew J Wallace, Gail Norbury, Diana M Eccles, Sian Ellard, Fiona Lalloo, D Gareth Evans, Emma Woodward, Marc Tischkowitz, Helen Hanson, Clare Turnbull, CanVIG-UK
Mar 16, 2020
Advances in technology have led to a massive expansion in the capacity for genomic analysis, with a commensurate fall in costs. The clinical indications for genomic testing have evolved markedly; the volume of clinical...
Identifying dementia outcomes in UK Biobank
Tim Wilkinson, Christian Schnier, Kathryn Bush, Kristiina Rannikmäe, David E Henshall, Chris Lerpiniere, Naomi E Allen, Robin Flaig, Tom C Russ, Deborah Bathgate, Suvankar Pal, John T O'Brien, Cathie LM Sudlow, Dementias Platform UK and UK Biobank
Mar 06, 2019
Prospective, population-based studies that recruit participants in mid-life are valuable resources for dementia research. Follow-up in these studies is often through linkage to routinely-collected healthcare datasets. We...
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...
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...
Diffuse Intracranial Injury Patterns Are Associated with Impaired Cerebrovascular Reactivity in Adult Traumatic Brain Injury
Frederick A Zeiler, François Mathieu, Miguel Monteiro, Ben Glocker, Ari Ercole, Erta Beqiri, Manuel Cabeleira, Nino Stocchetti, Peter Smielewski, Marek Czosnyka, Virginia Newcombe, David K Menon, the CENTER-TBI High-Resolution ICU (HR ICU) Sub-Study Participants and Investigators CENTER-TBI High-Resolution ICU (HR ICU) Sub-Study Participants and Investigators
Feb 28, 2020
Recent single-center retrospective analysis displayed the association between admission computed tomography (CT) markers of diffuse intracranial injury and worse cerebrovascular reactivity. The goal of this study was to further...
|
|< |
< |
1 |