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uk biobank

Thomas J Hoffmann, Bronya J Keats, Noriko Yoshikawa, Catherine Schaefer, Neil Risch, Lawrence R Lustig
Age-related hearing impairment (ARHI), one of the most common sensory disorders, can be mitigated, but not cured or eliminated. To identify genetic influences underlying ARHI, we conducted a genome-wide association study of ARHI in 6,527 cases and 45,882 controls among the non-Hispanic whites from the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. We identified two novel genome-wide significant SNPs: rs4932196 (odds ratio = 1.185, p = 4.0x10-11), 52Kb 3' of ISG20, which replicated in a meta-analysis of the other GERA race/ethnicity groups (1,025 cases, 12,388 controls, p = 0...
October 2016: PLoS Genetics
Ruth C Travis, Angela Balkwill, Georgina K Fensom, Paul N Appleby, Gillian K Reeves, Xiao-Si Wang, Andrew W Roddam, Toral Gathani, Richard Peto, Jane Green, Timothy J Key, Valerie Beral
BACKGROUND: It has been proposed that night shift work could increase breast cancer incidence. A 2007 World Health Organization review concluded, mainly from animal evidence, that shift work involving circadian disruption is probably carcinogenic to humans. We therefore aimed to generate prospective epidemiological evidence on night shift work and breast cancer incidence. METHODS: Overall, 522 246 Million Women Study, 22 559 EPIC-Oxford, and 251 045 UK Biobank participants answered questions on shift work and were followed for incident cancer...
December 2016: Journal of the National Cancer Institute
Fang Ko, Paul J Foster, Nicholas G Strouthidis, Yusrah Shweikh, Qi Yang, Charles A Reisman, Zaynah A Muthy, Usha Chakravarthy, Andrew J Lotery, Pearse A Keane, Adnan Tufail, Carlota M Grossi, Praveen J Patel
PURPOSE: To describe associations of ocular and systemic factors with retinal pigment epithelium (RPE)-Bruch's membrane (BM) complex thickness as measured by spectral-domain (SD) optical coherence tomography (OCT). DESIGN: Multisite community-based study. This research has been conducted using the UK Biobank Resource. PARTICIPANTS: Sixty-seven thousand three hundred eighteen people 40 to 69 years old received questionnaires, physical examination, and eye examination, including macular SD OCT...
October 6, 2016: Ophthalmology
Pearse A Keane, Carlota M Grossi, Paul J Foster, Qi Yang, Charles A Reisman, Kinpui Chan, Tunde Peto, Dhanes Thomas, Praveen J Patel
PURPOSE: To describe an approach to the use of optical coherence tomography (OCT) imaging in large, population-based studies, including methods for OCT image acquisition, storage, and the remote, rapid, automated analysis of retinal thickness. METHODS: In UK Biobank, OCT images were acquired between 2009 and 2010 using a commercially available "spectral domain" OCT device (3D OCT-1000, Topcon). Images were obtained using a raster scan protocol, 6 mm x 6 mm in area, and consisting of 128 B-scans...
2016: PloS One
Donald M Lyall, Hazel M Inskip, Daniel Mackay, Ian J Deary, Andrew M McIntosh, Matthew Hotopf, Tony Kendrick, Jill P Pell, Daniel J Smith
BACKGROUND: Low birth weight has been inconsistently associated with risk of developing affective disorders, including major depressive disorder (MDD). To date, studies investigating possible associations between birth weight and bipolar disorder (BD), or personality traits known to predispose to affective disorders such as neuroticism, have not been conducted in large cohorts. AIMS: To assess whether very low birth weight (<1500 g) and low birth weight (1500-2490 g) were associated with higher neuroticism scores assessed in middle age, and lifetime history of either MDD or BD...
January 2016: BJPsych Open
Marilyn C Cornelis, Tim Kacprowski, Cristina Menni, Stefan Gustafsson, Edward Pivin, Jerzy Adamski, Anna Artati, Chin B Eap, Georg Ehret, Nele Friedrich, Andrea Ganna, Idris Guessous, Georg Homuth, Lars Lind, Patrik K Magnusson, Massimo Mangino, Nancy L Pedersen, Maik Pietzner, Karsten Suhre, Henry Völzke, Murielle Bochud, Tim D Spector, Hans J Grabe, Erik Ingelsson
Caffeine is the most widely consumed psychoactive substance in the world and presents with wide interindividual variation in metabolism. This variation may modify potential adverse or beneficial effects of caffeine on health. We conducted a genome-wide association study (GWAS) of plasma caffeine, paraxanthine, theophylline, theobromine and paraxanthine/caffeine ratio among up to 9,876 individuals of European ancestry from six population-based studies. A single SNP at 6p23 (near CD83) and several SNPs at 7p21 (near AHR), 15q24 (near CYP1A2) and 19q13...
October 3, 2016: Human Molecular Genetics
Lydia J Leon, Nita Solanky, Susanne E Stalman, Charalambos Demetriou, Sayeda Abu-Amero, Philip Stanier, Lesley Regan, Gudrun E Moore
About 20% of pregnancies are affected by some form of complication. Research has shown that anomalies in implantation, development, and growth of the fetus; ineffective nutrient exchange between mother and fetus due to placental dysfunction; and maternal problems such as hypertension or infection during pregnancy can all lead to adverse pregnancy outcomes. However, the molecular aetiology of such events remains poorly understood. Fetal growth restriction (FGR), recurrent miscarriage (RM), preterm birth (PTB), and pre-eclampsia (PE) are the most common pregnancy complications encountered in the UK and these outcomes can result in an array of morbidities in both mother and baby, and in the most severe cases in mortality...
October 2016: Placenta
Thomas J Littlejohns, Ruth C Travis, Tim J Key, Naomi E Allen
BACKGROUND: The central role of prostate-specific antigen (PSA) testing in the diagnosis of prostate cancer leads to the possibility that observational studies that report associations between risk factors and prostate cancer could be affected by detection bias. This study aims to investigate whether reported risk factors for prostate cancer are associated with PSA testing in a large middle-aged population-based cohort in the UK. METHODS: The cross-sectional association between a wide range of sociodemographic, lifestyle, dietary and health characteristics with PSA testing was examined in 212,039 men aged 40-69 years in UK Biobank...
September 29, 2016: Cancer Epidemiology
Andrew M McIntosh, Robert Stewart, Ann John, Daniel J Smith, Katrina Davis, Cathie Sudlow, Aiden Corvin, Kristin K Nicodemus, David Kingdon, Lamiece Hassan, Matthew Hotopf, Stephen M Lawrie, Tom C Russ, John R Geddes, Miranda Wolpert, Eva Wölbert, David J Porteous
Data science uses computer science and statistics to extract new knowledge from high-dimensional datasets (ie, those with many different variables and data types). Mental health research, diagnosis, and treatment could benefit from data science that uses cohort studies, genomics, and routine health-care and administrative data. The UK is well placed to trial these approaches through robust NHS-linked data science projects, such as the UK Biobank, Generation Scotland, and the Clinical Record Interactive Search (CRIS) programme...
October 2016: Lancet Psychiatry
Danny Mitry, Kris Zutis, Baljean Dhillon, Tunde Peto, Shabina Hayat, Kay-Tee Khaw, James E Morgan, Wendy Moncur, Emanuele Trucco, Paul J Foster
PURPOSE: Crowdsourcing is based on outsourcing computationally intensive tasks to numerous individuals in the online community who have no formal training. Our aim was to develop a novel online tool designed to facilitate large-scale annotation of digital retinal images, and to assess the accuracy of crowdsource grading using this tool, comparing it to expert classification. METHODS: We used 100 retinal fundus photograph images with predetermined disease criteria selected by two experts from a large cohort study...
September 2016: Translational Vision Science & Technology
Janne West, Olof Dahlqvist Leinhard, Thobias Romu, Rory Collins, Steve Garratt, Jimmy D Bell, Magnus Borga, Louise Thomas
INTRODUCTION: Quantitative and accurate measurements of fat and muscle in the body are important for prevention and diagnosis of diseases related to obesity and muscle degeneration. Manually segmenting muscle and fat compartments in MR body-images is laborious and time-consuming, hindering implementation in large cohorts. In the present study, the feasibility and success-rate of a Dixon-based MR scan followed by an intensity-normalised, non-rigid, multi-atlas based segmentation was investigated in a cohort of 3,000 subjects...
2016: PloS One
André F S Amaral, David P Strachan, Francisco Gómez Real, Peter G J Burney, Deborah L Jarvis
Little is known about the effect of cessation of menstruation on lung function. The aims of the study were to examine the association of lung function with natural and surgical cessation of menstruation, and assess whether lower lung function is associated with earlier age at cessation of menstruation.The study was performed in 141 076 women from the UK Biobank, who had provided acceptable and reproducible spirometry measurements and information on menstrual status. The associations of lung function (forced vital capacity (FVC), forced expiratory volume in 1 s (FEV1), spirometric restriction (FVC < lower limit of normal (LLN)), airflow obstruction (FEV1/FVC <LLN)) with cessation of menstruation and age at cessation of menstruation were assessed using regression analysis...
September 22, 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
Karla L Miller, Fidel Alfaro-Almagro, Neal K Bangerter, David L Thomas, Essa Yacoub, Junqian Xu, Andreas J Bartsch, Saad Jbabdi, Stamatios N Sotiropoulos, Jesper L R Andersson, Ludovica Griffanti, Gwenaëlle Douaud, Thomas W Okell, Peter Weale, Iulius Dragonu, Steve Garratt, Sarah Hudson, Rory Collins, Mark Jenkinson, Paul M Matthews, Stephen M Smith
Medical imaging has enormous potential for early disease prediction, but is impeded by the difficulty and expense of acquiring data sets before symptom onset. UK Biobank aims to address this problem directly by acquiring high-quality, consistently acquired imaging data from 100,000 predominantly healthy participants, with health outcomes being tracked over the coming decades. The brain imaging includes structural, diffusion and functional modalities. Along with body and cardiac imaging, genetics, lifestyle measures, biological phenotyping and health records, this imaging is expected to enable discovery of imaging markers of a broad range of diseases at their earliest stages, as well as provide unique insight into disease mechanisms...
September 19, 2016: Nature Neuroscience
Alejandra Bruna, Oscar M Rueda, Wendy Greenwood, Ankita Sati Batra, Maurizio Callari, Rajbir Nath Batra, Katherine Pogrebniak, Jose Sandoval, John W Cassidy, Ana Tufegdzic-Vidakovic, Stephen-John Sammut, Linda Jones, Elena Provenzano, Richard Baird, Peter Eirew, James Hadfield, Matthew Eldridge, Anne McLaren-Douglas, Andrew Barthorpe, Howard Lightfoot, Mark J O'Connor, Joe Gray, Javier Cortes, Jose Baselga, Elisabetta Marangoni, Alana L Welm, Samuel Aparicio, Violeta Serra, Mathew J Garnett, Carlos Caldas
The inter- and intra-tumor heterogeneity of breast cancer needs to be adequately captured in pre-clinical models. We have created a large collection of breast cancer patient-derived tumor xenografts (PDTXs), in which the morphological and molecular characteristics of the originating tumor are preserved through passaging in the mouse. An integrated platform combining in vivo maintenance of these PDTXs along with short-term cultures of PDTX-derived tumor cells (PDTCs) was optimized. Remarkably, the intra-tumor genomic clonal architecture present in the originating breast cancers was mostly preserved upon serial passaging in xenografts and in short-term cultured PDTCs...
September 22, 2016: Cell
J A Guggenheim, C Williams
No abstract text is available yet for this article.
September 16, 2016: Eye
I M Stratton
No abstract text is available yet for this article.
September 16, 2016: Eye
Sophie V Eastwood, Rohini Mathur, Mark Atkinson, Sinead Brophy, Cathie Sudlow, Robin Flaig, Simon de Lusignan, Naomi Allen, Nishi Chaturvedi
OBJECTIVES: UK Biobank is a UK-wide cohort of 502,655 people aged 40-69, recruited from National Health Service registrants between 2006-10, with healthcare data linkage. Type 2 diabetes is a key exposure and outcome. We developed algorithms to define prevalent and incident diabetes for UK Biobank. The algorithms will be implemented by UK Biobank and their results made available to researchers on request. METHODS: We used UK Biobank self-reported medical history and medication to assign prevalent diabetes and type, and tested this against linked primary and secondary care data in Welsh UK Biobank participants...
2016: PloS One
Alexander I Young, Fabian Wauthier, Peter Donnelly
Genetic studies have shown that obesity risk is heritable and that, of the many common variants now associated with body mass index, those in an intron of the fat mass and obesity-associated (FTO) gene have the largest effect. The size of the UK Biobank, and its joint measurement of genetic, anthropometric and lifestyle variables, offers an unprecedented opportunity to assess gene-by-environment interactions in a way that accounts for the dependence between different factors. We jointly examine the evidence for interactions between FTO (rs1421085) and various lifestyle and environmental factors...
2016: Nature Communications
Alexander Weiss, Bart M L Baselmans, Edith Hofer, Jingyun Yang, Aysu Okbay, Penelope A Lind, Mike B Miller, Ilja M Nolte, Wei Zhao, Saskia P Hagenaars, Jouke-Jan Hottenga, Lindsay K Matteson, Harold Snieder, Jessica D Faul, Catharina A Hartman, Patricia A Boyle, Henning Tiemeier, Miriam A Mosing, Alison Pattie, Gail Davies, David C Liewald, Reinhold Schmidt, Philip L De Jager, Andrew C Heath, Markus Jokela, John M Starr, Albertine J Oldehinkel, Magnus Johannesson, David Cesarini, Albert Hofman, Sarah E Harris, Jennifer A Smith, Liisa Keltikangas-Järvinen, Laura Pulkki-Råback, Helena Schmidt, Jacqui Smith, William G Iacono, Matt McGue, David A Bennett, Nancy L Pedersen, Patrik K E Magnusson, Ian J Deary, Nicholas G Martin, Dorret I Boomsma, Meike Bartels, Michelle Luciano
Approximately half of the variation in wellbeing measures overlaps with variation in personality traits. Studies of non-human primate pedigrees and human twins suggest that this is due to common genetic influences. We tested whether personality polygenic scores for the NEO Five-Factor Inventory (NEO-FFI) domains and for item response theory (IRT) derived extraversion and neuroticism scores predict variance in wellbeing measures. Polygenic scores were based on published genome-wide association (GWA) results in over 17,000 individuals for the NEO-FFI and in over 63,000 for the IRT extraversion and neuroticism traits...
October 2016: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
Andrew M McIntosh, Lynsey S Hall, Yanni Zeng, Mark J Adams, Jude Gibson, Eleanor Wigmore, Saskia P Hagenaars, Gail Davies, Ana Maria Fernandez-Pujals, Archie I Campbell, Toni-Kim Clarke, Caroline Hayward, Chris S Haley, David J Porteous, Ian J Deary, Daniel J Smith, Barbara I Nicholl, David A Hinds, Amy V Jones, Serena Scollen, Weihua Meng, Blair H Smith, Lynne J Hocking
BACKGROUND: Chronic pain is highly prevalent and a significant source of disability, yet its genetic and environmental risk factors are poorly understood. Its relationship with major depressive disorder (MDD) is of particular importance. We sought to test the contribution of genetic factors and shared and unique environment to risk of chronic pain and its correlation with MDD in Generation Scotland: Scottish Family Health Study (GS:SFHS). We then sought to replicate any significant findings in the United Kingdom Biobank study...
August 2016: PLoS Medicine
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