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Results: 85
Evidence of association with type 1 diabetes in the SLC11A1 gene region
Background
Linkage and congenic strain analyses using the nonobese diabetic (NOD) mouse as a model for human type 1 autoimmune diabetes (T1D) have identified several NOD mouse Idd (insulin dependent diabetes) loci...
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...
Rare and low-frequency coding variants alter human adult height
KE Stirrups, AS Butterworth, R Chowdhury, J Danesh, E Di Angelantonio, JMM Howson, P Surendran, R Young, JG Dennis, DF Easton, DJ Thompson, AM Dunning, A Pirie, JP Tyrer, C Langenberg, J Luan, RA Scott, NJ Wareham, SM Willems, JH Zhao, S Sivapalaratnam
Jan 25, 2017
A robust and efficient method for Mendelian randomization with hundreds of genetic variants.
Mendelian randomization (MR) is an epidemiological technique that uses genetic variants to distinguish correlation from causation in observational data. The reliability of a MR investigation depends on the validity of the...
Published by: Nature Communications
A robust and efficient method for Mendelian randomization with hundreds of genetic variants.
Mendelian randomization (MR) is an epidemiological technique that uses genetic variants to distinguish correlation from causation in observational data. The reliability of a MR investigation depends on the validity of the...
Body Mass Index Cholesterol HDL Cholesterol LDL Coronary Disease Diabetes mellitus Type 2 Genetic Association Studies Genetic Pleiotropy Genetic Predisposition to Disease genetic variation Humans Mendelian Randomization Analysis Models Genetic molecular epidemiology Phenotype Reproducibility of Results Research Design Risk Factors Triglycerides
Kinetic modelling of combustion in a spark ignition engine with water injection
Hao Yuan, Karl Giles, Sipeng Zhu, Simeon Howson, Andrew Lewis, Sam Akehurst, Niall Turner, James Harris, Gavin Fowler, John Geddes
Jan 01, 2021
This work models the impact of direct water injection on the combustion process in a spark ignition engine. It uses a two-zone kinetic model coupled with detailed combustion chemistry to highlight the thermodynamic and...
A fast and efficient colocalization algorithm for identifying shared genetic risk factors across multiple traits
Christopher N. Foley, James R. Staley, Philip G. Breen, Benjamin B. Sun, Paul D. W. Kirk, Stephen Burgess, Joanna M. M. Howson
Feb 03, 2021
Abstract: Genome-wide association studies (GWAS) have identified thousands of genomic regions affecting complex diseases. The next challenge is to elucidate the causal genes and mechanisms involved. One approach is to use...
Genome-wide association study of MRI markers of cerebral small vessel disease in 42,310 participants
Elodie Persyn, Ken B. Hanscombe, Joanna M. M. Howson, Cathryn M. Lewis, Matthew Traylor, Hugh S. Markus
May 01, 2021
Abstract: Cerebral small vessel disease is a major cause of stroke and dementia, but its genetic basis is incompletely understood. We perform a genetic study of three MRI markers of the disease in UK Biobank imaging data and...
Optically pure, water-stable metallo-helical ‘flexicate’ assemblies with antibiotic activity
Suzanne E Howson, Albert Bolhuis, Viktor Brabec, Guy J Clarkson, Jaroslav Malina, Alison Rodger, Peter Scott
Jan 01, 2012
The helicates-chiral assemblies of two or more metal atoms linked by short or relatively rigid multidentate organic ligands-may be regarded as non-peptide mimetics of alpha-helices because they are of comparable size and have...
Optically pure, water-stable metallo-helical ‘flexicate’ assemblies with antibiotic activity
Suzanne E Howson, Albert Bolhuis, Viktor Brabec, Guy J Clarkson, Jaroslav Malina, Alison Rodger, Peter Scott
Jan 01, 2012
The helicates-chiral assemblies of two or more metal atoms linked by short or relatively rigid multidentate organic ligands-may be regarded as non-peptide mimetics of alpha-helices because they are of comparable size and have...
A fast and efficient colocalization algorithm for identifying shared genetic risk factors across multiple traits.
Christopher N Foley, James R Staley, Philip G Breen, Benjamin B Sun, Paul DW Kirk, Stephen Burgess, Joanna MM Howson
Jan 04, 2021
Genome-wide association studies (GWAS) have identified thousands of genomic regions affecting complex diseases. The next challenge is to elucidate the causal genes and mechanisms involved. One approach is to use statistical...
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes
J Danesh, Praveen Surendran, Rajiv Chowdhury, joanna Howson, Adam Butterworth, Nicholas Wareham
Jul 09, 2018
We aggregated coding variant data for 81,412 type 2 diabetes cases and 370,832 controls of diverse ancestry, identifying 40 coding variant association signals (P < 2.2 × 10−7); of these, 16 map outside known risk-associated...
Genomic risk score offers predictive performance comparable to clinical risk factors for ischaemic stroke.
Gad Abraham, Rainer Malik, Ekaterina Yonova-Doing, Agus Salim, Tingting Wang, John Danesh, Adam S Butterworth, Joanna MM Howson, Michael Inouye, Martin Dichgans
Jan 10, 2020
Recent genome-wide association studies in stroke have enabled the generation of genomic risk scores (GRS) but their predictive power has been modest compared to established stroke risk factors. Here, using a meta-scoring...
Aged blood pressure Body Mass Index Brain Ischemia Comorbidity Datasets as Topic Female Genetic Predisposition to Disease Genome-Wide Association Study Genomics Humans Male Medical History Taking Middle Aged Polymorphism Single Nucleotide Predictive Value of Tests Risk Assessment Smoking United Kingdom
An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank.
Ekaterina Yonova-Doing, Claudia Calabrese, Aurora Gomez-Duran, Katherine Schon, Wei Wei, Savita Karthikeyan, Patrick F Chinnery, Joanna MM Howson
Apr 21, 2021
Mitochondrial DNA (mtDNA) variation in common diseases has been underexplored, partly due to a lack of genotype calling and quality-control procedures. Developing an at-scale workflow for mtDNA variant analyses, we show...
Associations of genetically predicted IL-6 signaling with cardiovascular disease risk across population subgroups.
Marios K Georgakis, Rainer Malik, Tom G Richardson, Joanna MM Howson, Christopher D Anderson, Stephen Burgess, G Kees Hovingh, Martin Dichgans, Dipender Gill
Aug 11, 2022
BACKGROUND: Interleukin 6 (IL-6) signaling is being investigated as a therapeutic target for atherosclerotic cardiovascular disease (CVD). While changes in circulating high-sensitivity C-reactive protein (hsCRP) are used as a...
Association analyses based on false discovery rate implicate new loci for coronary artery disease
CP Nelson, A Goel, AS Butterworth, S Kanoni, TR Webb, E Marouli, L Zeng, I Ntalla, FY Lai, JC Hopewell, O Giannakopoulou, T Jiang, SE Hamby, E Di Angelantonio, TL Assimes, EP Bottinger, JC Chambers, R Clarke, CNA Palmer, RM Cubbon, P Ellinor, R Ermel, E Evangelou, PW Franks, C Grace, D Gu, AD Hingorani, JMM Howson, E Ingelsson, A Kastrati, T Kessler, T Kyriakou, T Lehtimäki, X Lu, Y Lu, W März, R McPherson, A Metspalu, M Pujades-Rodriguez, A Ruusalepp, EE Schadt, AF Schmidt, MJ Sweeting, PA Zalloua, K AlGhalayini, BD Keavney, JS Kooner, RJF Loos, RS Patel, MK Rutter, M Tomaszewski, I Tzoulaki, E Zeggini, J Erdmann, G Dedoussis, JLM Björkegren, EPIC-CVD Consortium, CARDIoGRAMplusC4D, UK Biobank CardioMetabolic Consortium CHD working group, H Schunkert, M Farrall, J Danesh, NJ Samani, H Watkins, P Deloukas
Aug 21, 2017
Genomic risk score offers predictive performance comparable to clinical risk factors for ischaemic stroke.
Gad Abraham, Rainer Malik, Ekaterina Yonova-Doing, Agus Salim, Tingting Wang, John Danesh, Adam S Butterworth, Joanna M M Howson, Michael Inouye, Martin Dichgans
Jan 27, 2020
Recent genome-wide association studies in stroke have enabled the generation of genomic risk scores (GRS) but their predictive power has been modest compared to established stroke risk factors. Here, using a meta-scoring...
The association between frailty and MRI features of cerebral small vessel disease.
Ilse MJ Kant, Henri JMM Mutsaerts, Simone JT van Montfort, Myriam G Jaarsma-Coes, Theodoor D Witkamp, Georg Winterer, Claudia D Spies, Jeroen Hendrikse, Arjen JC Slooter, Jeroen de Bresser, BioCog Consortium
Oct 22, 2019
Frailty is a common syndrome in older individuals that is associated with poor cognitive outcome. The underlying brain correlates of frailty are unclear. The aim of this study was to investigate the association between frailty...
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