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https://www.readbyqxmd.com/read/28925747/protocol-and-quality-assurance-for-carotid-imaging-in-100-000-participants-of-uk-biobank-development-and-assessment
#1
Sean Coffey, Adam J Lewandowski, Steve Garratt, Rudy Meijer, Steven Lynum, Ram Bedi, James Paterson, Mohammad Yaqub, J Alison Noble, Stefan Neubauer, Steffen E Petersen, Naomi Allen, Cathie Sudlow, Rory Collins, Paul M Matthews, Paul Leeson
Background Ultrasound imaging is able to quantify carotid arterial wall structure for the assessment of cerebral and cardiovascular disease risks. We describe a protocol and quality assurance process to enable carotid imaging at large scale that has been developed for the UK Biobank Imaging Enhancement Study of 100,000 individuals. Design An imaging protocol was developed to allow measurement of carotid intima-media thickness from the far wall of both common carotid arteries. Six quality assurance criteria were defined and a web-based interface (Intelligent Ultrasound) was developed to facilitate rapid assessment of images against each criterion...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28924184/genetic-contributions-to-trail-making-test-performance-in-uk-biobank
#2
S P Hagenaars, S R Cox, W D Hill, G Davies, D C M Liewald, S E Harris, A M McIntosh, C R Gale, I J Deary
The Trail Making Test (TMT) is a widely used test of executive function and has been thought to be strongly associated with general cognitive function. We examined the genetic architecture of the TMT and its shared genetic aetiology with other tests of cognitive function in 23 821 participants from UK Biobank. The single-nucleotide polymorphism-based heritability estimates for trail-making measures were 7.9% (part A), 22.4% (part B) and 17.6% (part B-part A). Significant genetic correlations were identified between trail-making measures and verbal-numerical reasoning (rg>0...
September 19, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28917120/automated-arteriole-and-venule-classification-using-deep-learning-for-retinal-images-from-the-uk-biobank-cohort
#3
R A Welikala, P J Foster, P H Whincup, A R Rudnicka, C G Owen, D P Strachan, S A Barman
The morphometric characteristics of the retinal vasculature are associated with future risk of many systemic and vascular diseases. However, analysis of data from large population based studies is needed to help resolve uncertainties in some of these associations. This requires automated systems that extract quantitative measures of vessel morphology from large numbers of retinal images. Associations between retinal vessel morphology and disease precursors/outcomes may be similar or opposing for arterioles and venules...
September 8, 2017: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/28910820/prospective-investigation-of-risk-factors-for-prostate-cancer-in-the-uk-biobank-cohort-study
#4
Aurora Perez-Cornago, Timothy J Key, Naomi E Allen, Georgina K Fensom, Kathryn E Bradbury, Richard M Martin, Ruth C Travis
BACKGROUND: Prostate cancer is the most common cancer in British men but its aetiology is not well understood. We aimed to identify risk factors for prostate cancer in British males. METHODS: We studied 219 335 men from the UK Biobank study who were free from cancer at baseline. Exposure data were collected at recruitment. Prostate cancer risk by the different exposures was estimated using multivariable-adjusted Cox proportional hazards models. RESULTS: In all, 4575 incident cases of prostate cancer occurred during 5...
September 14, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28893854/will-big-data-close-the-missing-heritability-gap
#5
Hwasoon Kim, Alexander Grueneberg, Ana I Vazquez, Stephen Hsu, Gustavo de Los Campos
Despite the important discoveries reported by Genome-Wide Association studies, for most traits and diseases the prediction R-squared (R-sq.) achieved with genetic scores remains considerably lower than the trait heritability. Modern biobanks will soon deliver unprecedentedly large biomedical data sets: Will the advent of Big Data close the gap between the trait heritability and the proportion of variance that can be explained by a genomic predictor? We addressed this question using Bayesian methods and a data analysis approach that produces a surface response relating prediction R-sq...
September 11, 2017: Genetics
https://www.readbyqxmd.com/read/28873402/gene-environment-interaction-study-for-bmi-reveals-interactions-between-genetic-factors-and-physical-activity-alcohol-consumption-and-socioeconomic-status
#6
Mathias Rask-Andersen, Torgny Karlsson, Weronica E Ek, Åsa Johansson
Previous genome-wide association studies (GWAS) have identified hundreds of genetic loci to be associated with body mass index (BMI) and risk of obesity. Genetic effects can differ between individuals depending on lifestyle or environmental factors due to gene-environment interactions. In this study, we examine gene-environment interactions in 362,496 unrelated participants with Caucasian ancestry from the UK Biobank resource. A total of 94 BMI-associated SNPs, selected from a previous GWAS on BMI, were used to construct weighted genetic scores for BMI (GSBMI)...
September 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28873397/long-term-intra-individual-reproducibility-of-heart-rate-dynamics-during-exercise-and-recovery-in-the-uk-biobank-cohort
#7
Michele Orini, Andrew Tinker, Patricia B Munroe, Pier D Lambiase
BACKGROUND: The heart rate (HR) response to exercise provides useful information about the autonomic function and has prognostic value, but its reproducibility over a long period of time, a critical requirement for using it as a clinical biomarker, is undetermined. AIM: To determine the intra-individual reproducibility of HR dynamics during sub-maximum exercise and one minute recovery. METHODS: 1187 individuals from the Cardio physical fitness assessment test of the UK Biobank repeated a standard exercise stress test twice (recall time 34...
2017: PloS One
https://www.readbyqxmd.com/read/28873088/identifying-genetic-variants-that-affect-viability-in-large-cohorts
#8
Hakhamanesh Mostafavi, Tomaz Berisa, Felix R Day, John R B Perry, Molly Przeworski, Joseph K Pickrell
A number of open questions in human evolutionary genetics would become tractable if we were able to directly measure evolutionary fitness. As a step towards this goal, we developed a method to examine whether individual genetic variants, or sets of genetic variants, currently influence viability. The approach consists in testing whether the frequency of an allele varies across ages, accounting for variation in ancestry. We applied it to the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort and to the parents of participants in the UK Biobank...
September 2017: PLoS Biology
https://www.readbyqxmd.com/read/28871152/genome-wide-association-study-of-blood-pressure-traits-by-hispanic-latino-background-the-hispanic-community-health-study-study-of-latinos
#9
Tamar Sofer, Quenna Wong, Fernando P Hartwig, Kent Taylor, Helen R Warren, Evangelos Evangelou, Claudia P Cabrera, Daniel Levy, Holly Kramer, Leslie A Lange, Bernardo L Horta, Kathleen F Kerr, Alex P Reiner, Nora Franceschini
Hypertension prevalence varies between ethnic groups, possibly due to differences in genetic, environmental, and cultural determinants. Hispanic/Latino Americans are a diverse and understudied population. We performed a genome-wide association study (GWAS) of blood pressure (BP) traits in 12,278 participants from the Hispanics Community Health Study/Study of Latinos (HCHS/SOL). In the discovery phase we identified eight previously unreported BP loci. In the replication stage, we tested these loci in the 1982 Pelotas Birth Cohort Study of admixed Southern Brazilians, the COGENT-BP study of African descent, women of European descent from the Women Health Initiative (WHI), and a sample of European descent from the UK Biobank...
September 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28869591/identification-of-153-new-loci-associated-with-heel-bone-mineral-density-and-functional-involvement-of-gpc6-in-osteoporosis
#10
John P Kemp, John A Morris, Carolina Medina-Gomez, Vincenzo Forgetta, Nicole M Warrington, Scott E Youlten, Jie Zheng, Celia L Gregson, Elin Grundberg, Katerina Trajanoska, John G Logan, Andrea S Pollard, Penny C Sparkes, Elena J Ghirardello, Rebecca Allen, Victoria D Leitch, Natalie C Butterfield, Davide Komla-Ebri, Anne-Tounsia Adoum, Katharine F Curry, Jacqueline K White, Fiona Kussy, Keelin M Greenlaw, Changjiang Xu, Nicholas C Harvey, Cyrus Cooper, David J Adams, Celia M T Greenwood, Matthew T Maurano, Stephen Kaptoge, Fernando Rivadeneira, Jonathan H Tobias, Peter I Croucher, Cheryl L Ackert-Bicknell, J H Duncan Bassett, Graham R Williams, J Brent Richards, David M Evans
Osteoporosis is a common disease diagnosed primarily by measurement of bone mineral density (BMD). We undertook a genome-wide association study (GWAS) in 142,487 individuals from the UK Biobank to identify loci associated with BMD as estimated by quantitative ultrasound of the heel. We identified 307 conditionally independent single-nucleotide polymorphisms (SNPs) that attained genome-wide significance at 203 loci, explaining approximately 12% of the phenotypic variance. These included 153 previously unreported loci, and several rare variants with large effect sizes...
September 4, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28854181/reaching-for-the-next-branch-on-the-biobank-tree-of-knowledge
#11
Nancy J Cox
An innovative study analyzing genetic association across tree-structured routine healthcare data in the UK Biobank represents a new branch on a tree that is poised to grow rapidly and offer new kinds of insights on how genome variation relates to human health and disease. Indeed, this tree is likely to offer new kinds of insights into the very nature of human disease.
August 30, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28836039/fully-automated-left-ventricular-mass-and-volume-mri-analysis-in-the-uk-biobank-population-cohort-evaluation-of-initial-results
#12
Avan Suinesiaputra, Mihir M Sanghvi, Nay Aung, Jose Miguel Paiva, Filip Zemrak, Kenneth Fung, Elena Lukaschuk, Aaron M Lee, Valentina Carapella, Young Jin Kim, Jane Francis, Stefan K Piechnik, Stefan Neubauer, Andreas Greiser, Marie-Pierre Jolly, Carmel Hayes, Alistair A Young, Steffen E Petersen
UK Biobank, a large cohort study, plans to acquire 100,000 cardiac MRI studies by 2020. Although fully-automated left ventricular (LV) analysis was performed in the original acquisition, this was not designed for unsupervised incorporation into epidemiological studies. We sought to evaluate automated LV mass and volume (Siemens syngo InlineVF versions D13A and E11C), against manual analysis in a substantial sub-cohort of UK Biobank participants. Eight readers from two centers, trained to give consistent results, manually analyzed 4874 UK Biobank cases for LV end-diastolic volume (EDV), end-systolic volume (ESV), stroke volume (SV), ejection fraction (EF) and LV mass (LVM)...
August 23, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28809859/do-regional-brain-volumes-and-major-depressive-disorder-share-genetic-architecture-a-study-of-generation-scotland-n-19%C3%A2-762-uk-biobank-n-24%C3%A2-048-and-the-english-longitudinal-study-of-ageing-n-5766
#13
E M Wigmore, T-K Clarke, D M Howard, M J Adams, L S Hall, Y Zeng, J Gibson, G Davies, A M Fernandez-Pujals, P A Thomson, C Hayward, B H Smith, L J Hocking, S Padmanabhan, I J Deary, D J Porteous, K K Nicodemus, A M McIntosh
Major depressive disorder (MDD) is a heritable and highly debilitating condition. It is commonly associated with subcortical volumetric abnormalities, the most replicated of these being reduced hippocampal volume. Using the most recent published data from Enhancing Neuroimaging Genetics through Meta-analysis (ENIGMA) consortium's genome-wide association study of regional brain volume, we sought to test whether there is shared genetic architecture between seven subcortical brain volumes and intracranial volume (ICV) and MDD...
August 15, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28795158/replication-and-characterization-of-cadm2-and-msra-genes-on-human-behavior
#14
Brian Boutwell, David Hinds, Jorim Tielbeek, Ken K Ong, Felix R Day, John R B Perry
Progress identifying the genetic determinants of personality has historically been slow, with candidate gene studies and small-scale genome-wide association studies yielding few reproducible results. In the UK Biobank study, genetic variants in CADM2 and MSRA were recently shown to influence risk taking behavior and irritability respectively, representing some of the first genomic loci to be associated with aspects of personality. We extend this observation by performing a personality "phenome-scan" across 16 traits in up to 140,487 participants from 23andMe for these two genes...
July 2017: Heliyon
https://www.readbyqxmd.com/read/28793990/independent-and-joint-associations-of-grip-strength-and-adiposity-with-all-cause-and-cardiovascular-disease-mortality-in-403-199-adults-the-uk-biobank-study
#15
Youngwon Kim, Katrien Wijndaele, Duck-Chul Lee, Stephen J Sharp, Nick Wareham, Soren Brage
Background: Higher grip strength (GS) is associated with lower mortality risk. However, whether this association is independent of adiposity is uncertain.Objective: The purpose of this study was to examine the associations between GS, adiposity, and mortality.Design: The UK Biobank study is an ongoing prospective cohort of >0.5 million UK adults aged 40-69 y. Baseline data collection (2006-2010) included measurements of GS and adiposity indicators, including body mass index (BMI; in kg/m(2)). Age- and sex-specific GS quintiles were used...
September 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28793914/performance-of-gout-definitions-for-genetic-epidemiological-studies-analysis-of-uk-biobank
#16
Murray Cadzow, Tony R Merriman, Nicola Dalbeth
BACKGROUND: Many different combinations of available data have been used to identify gout cases in large genetic studies. The aim of this study was to determine the performance of case definitions of gout using the limited items available in multipurpose cohorts for population-based genetic studies. METHODS: This research was conducted using the UK Biobank Resource. Data, including genome-wide genotypes, were available for 105,421 European participants aged 40-69 years without kidney disease...
August 9, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28793181/associations-of-coffee-genetic-risk-scores-with-consumption-of-coffee-tea-and-other-beverages-in-the-uk-biobank
#17
Amy E Taylor, George Davey Smith, Marcus R Munafò
AIMS: To evaluate the utility of coffee-related genetic variants as proxies for coffee consumption in Mendelian randomisation studies, by examining their association with non-alcoholic beverage consumption (including subtypes of coffee and tea) and a range of sociodemographic and lifestyle factors. DESIGN: Observational study of the association of genetic risk scores for coffee consumption with different types of non-alcoholic beverage consumption. SETTING: UK general population PARTICIPANTS: Individuals of European ancestry aged 40-70 years from the UK Biobank between 2006 and 2010 (N = 114,316)...
August 9, 2017: Addiction
https://www.readbyqxmd.com/read/28759005/bayesian-analysis-of-genetic-association-across-tree-structured-routine-healthcare-data-in-the-uk-biobank
#18
Adrian Cortes, Calliope A Dendrou, Allan Motyer, Luke Jostins, Damjan Vukcevic, Alexander Dilthey, Peter Donnelly, Stephen Leslie, Lars Fugger, Gil McVean
Genetic discovery from the multitude of phenotypes extractable from routine healthcare data can transform understanding of the human phenome and accelerate progress toward precision medicine. However, a critical question when analyzing high-dimensional and heterogeneous data is how best to interrogate increasingly specific subphenotypes while retaining statistical power to detect genetic associations. Here we develop and employ a new Bayesian analysis framework that exploits the hierarchical structure of diagnosis classifications to analyze genetic variants against UK Biobank disease phenotypes derived from self-reporting and hospital episode statistics...
September 2017: Nature Genetics
https://www.readbyqxmd.com/read/28752806/the-influence-of-social-interaction-and-physical-health-on-the-association-between-hearing-and-depression-with-age-and-gender
#19
Gitte Keidser, Mark Seeto
Recent epidemiological data suggest the relation between hearing difficulty and depression is more evident in younger and middle-aged populations than in older adults. There are also suggestions that the relation may be more evident in specific subgroups; that is, other factors may influence a relationship between hearing and depression in different subgroups. Using cross-sectional data from the UK Biobank on 134,357 community-dwelling people and structural equation modelling, this study examined the potential mediating influence of social isolation and unemployment and the confounding influence of physical illness and cardiovascular conditions on the relation between a latent hearing variable and both a latent depressive episodes variable and a latent depressive symptoms variable...
January 2017: Trends in Hearing
https://www.readbyqxmd.com/read/28748955/bayesian-association-scan-reveals-loci-associated-with-human-lifespan-and-linked-biomarkers
#20
Aaron F McDaid, Peter K Joshi, Eleonora Porcu, Andrea Komljenovic, Hao Li, Vincenzo Sorrentino, Maria Litovchenko, Roel P J Bevers, Sina Rüeger, Alexandre Reymond, Murielle Bochud, Bart Deplancke, Robert W Williams, Marc Robinson-Rechavi, Fred Paccaud, Valentin Rousson, Johan Auwerx, James F Wilson, Zoltán Kutalik
The enormous variation in human lifespan is in part due to a myriad of sequence variants, only a few of which have been revealed to date. Since many life-shortening events are related to diseases, we developed a Mendelian randomization-based method combining 58 disease-related GWA studies to derive longevity priors for all HapMap SNPs. A Bayesian association scan, informed by these priors, for parental age of death in the UK Biobank study (n=116,279) revealed 16 independent SNPs with significant Bayes factor at a 5% false discovery rate (FDR)...
July 27, 2017: Nature Communications
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