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Results: 86663
Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.
Previous studies have suggested that naturally occurring genetic variation contributes to the risk of astigmatism. The purpose of this investigation was to identify genetic markers associated with corneal and refractive...
Astigmatism Biological Specimen Banks Cornea Corneal Diseases Female Genetic Predisposition to Disease Genome-Wide Association Study Guanine Nucleotide Exchange Factors Humans Male Middle Aged Myopia Nuclear Proteins Polymorphism Single Nucleotide Ubiquitin-Protein Ligases United Kingdom White People
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...
A commonly occurring genetic variant within the NPLOC4-TSPAN10-PDE6G gene cluster is associated with the risk of strabismus.
Denis Plotnikov, Rupal L Shah, Jamille N Rodrigues, Phillippa M Cumberland, Jugnoo S Rahi, Pirro G Hysi, Denize Atan, Cathy Williams, Jeremy A Guggenheim, UK Biobank Eye and Vision Consortium
Jul 18, 2019
Strabismus refers to an abnormal alignment of the eyes leading to the loss of central binocular vision. Concomitant strabismus occurs when the angle of deviation is constant in all positions of gaze and often manifests in early...
Adult Aged Animals Case-Control Studies Child Cohort Studies Cyclic Nucleotide Phosphodiesterases Type 6 Female Genome-Wide Association Study Humans Male Mice Middle Aged Multigene Family Mutation Nuclear Proteins Polymorphism Single Nucleotide Retina Risk Factors strabismus Tetraspanins Visual Acuity
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...
Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.
Anthony P Khawaja, Jessica N Cooke Bailey, Nicholas J Wareham, Robert A Scott, Mark Simcoe, Robert P Igo, Yeunjoo E Song, Robert Wojciechowski, Ching-Yu Cheng, Peng T Khaw, Louis R Pasquale, Jonathan L Haines, Paul J Foster, Janey L Wiggs, Chris J Hammond, Pirro G Hysi, UK Biobank Eye and Vision Consortium, NEIGHBORHOOD Consortium
Aug 07, 2019
Glaucoma is the leading cause of irreversible blindness globally 1 . Despite its gravity, the disease is frequently undiagnosed in the community 2 . Raised intraocular pressure (IOP) is the most important risk factor for primary...
Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.
Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia.
Pirro G Hysi, Hélène Choquet, Anthony P Khawaja, Robert Wojciechowski, Milly S Tedja, Jie Yin, Mark J Simcoe, Karina Patasova, Omar A Mahroo, Khanh K Thai, Phillippa M Cumberland, Ronald B Melles, Virginie JM Verhoeven, Veronique Vitart, Ayellet Segre, Richard A Stone, Nick Wareham, Alex W Hewitt, David A Mackey, Caroline CW Klaver, Stuart MacGregor, Consortium for Refractive Error and Myopia, Peng T Khaw, Paul J Foster, UK Eye and Vision Consortium, Jeremy A Guggenheim, 23andMe Inc., Jugnoo S Rahi, Eric Jorgenson, Christopher J Hammond
Jan 14, 2021
Refractive errors, in particular myopia, are a leading cause of morbidity and disability worldwide. Genetic investigation can improve understanding of the molecular mechanisms that underlie abnormal eye development and impaired...
The Accuracy and Reliability of Crowdsource Annotations of Digital Retinal Images.
Danny Mitry, Kris Zutis, Baljean Dhillon, Tunde Peto, Shabina Hayat, Kay-Tee Khaw, James E Morgan, Wendy Moncur, Emanuele Trucco, Paul J Foster, 1 for the UK Biobank Eye and Vision Consortium
Nov 06, 2018
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...
Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error.
Qiao Fan, Alfred Pozarickij, Nicholas YQ Tan, Xiaobo Guo, Virginie JM Verhoeven, Veronique Vitart, Jeremy A Guggenheim, Masahiro Miyake, J Willem L Tideman, Anthony P Khawaja, Liang Zhang, Stuart MacGregor, René Höhn, Peng Chen, Ginevra Biino, Juho Wedenoja, Seyed Ehsan Saffari, Milly S Tedja, Jing Xie, Carla Lanca, Ya Xing Wang, Srujana Sahebjada, Johanna Mazur, Alireza Mirshahi, Nicholas G Martin, Seyhan Yazar, Craig E Pennell, Maurice Yap, Annechien EG Haarman, Clair A Enthoven, JanRoelof Polling, Consortium for Refractive Error and Myopia (CREAM), UK Biobank Eye and Vision Consortium, Alex W Hewitt, Vincent WV Jaddoe, Cornelia M van Duijn, Caroline Hayward, Ozren Polasek, E-Shyong Tai, Hosoda Yoshikatsu, Pirro G Hysi, Terri L Young, Akitaka Tsujikawa, Jie Jing Wang, Paul Mitchell, Norbert Pfeiffer, Olavi Pärssinen, Paul J Foster, Maurizio Fossarello, Shea Ping Yip, Cathy Williams, Christopher J Hammond, Jost B Jonas, Mingguang He, David A Mackey, Tien-Yin Wong, Caroline CW Klaver, Seang-Mei Saw, Paul N Baird, Ching-Yu Cheng
Mar 19, 2021
Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in...
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...
The need for widely available genomic testing in rare eye diseases
Graeme C Black, Panagiotis Sergouniotis, Andrea Sodi, Bart P Leroy, Caroline Van Cauwenbergh, Petra Liskova, Karen Grønskov, Artur Klett, Susanne Kohl, Gita Taurina, Marius Sukys, Lonneke Haer-Wigman, Katarzyna Nowomiejska, João Pedro Marques, Dorothée Leroux, Frans PM Cremers, Elfride De Baere, Hélène Dollfus, ERN-EYE study group
May 17, 2021
BACKGROUND: Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively...
Strengthening the integration of eye care into the health system
Stuart Keel, Jennifer R Evans, Sandra Block, Rupert Bourne, Margarita Calonge, Ching-Yu Cheng, David S Friedman, João M Furtado, Rohit C Khanna, Wanjiku Mathenge, Silvio Mariotti, Elenoa Matoto, Andreas Müller, M Mansur Rabiu, Tuwani Rasengane, Jialang Zhao, Richard Wormald, Alarcos Cieza
Aug 21, 2020
OBJECTIVE: To describe the rational for, and the methods that will be employed to develop, the WHO package of eye care interventions (PECI). METHODS AND ANALYSIS: The development of the package will be conducted in four steps...
Strengthening the integration of eye care into the health system
Stuart Keel, Jennifer R Evans, Sandra Block, Rupert Bourne, Margarita Calonge, Ching-Yu Cheng, David S Friedman, João M Furtado, Rohit C Khanna, Wanjiku Mathenge, Silvio Mariotti, Elenoa Matoto, Andreas Müller, M Mansur Rabiu, Tuwani Rasengane, Jialang Zhao, Richard Wormald, Alarcos Cieza
Aug 11, 2020
Objective: To describe the rational for, and the methods that will be employed to develop, the WHO package of eye care interventions (PECI). Methods and analysis: The development of the package will be conducted in four steps...
Comparison of risk factor associations in UK Biobank against representative, general population based studies with conventional response rates
Abstract: Objective: To compare established associations between risk factors and mortality in UK Biobank, a study with an exceptionally low rate of response to its baseline survey, against those from representative studies that...
Restoration of visual acuity with “ISOTINE” eye drops -an Ayurvedic formulation
Approximately 8 million to 2.3 million people worldwide have impaired vision due to uncorrected refractive error and cataract1. Hence the World Health Organization (WHO) has initiated Vision 2020 global program – “The right to...
Published by: IJHS Medical Association
Using UK Biobank for sexual minority health research
Aim: Despite poorer health and healthcare outcomes experienced by lesbian, gay and bisexual adults, data for research to characterize and address these disparities remain limited. Patients & methods: We describe sexual history...
Restoration of visual acuity with “ISOTINE” eye drops -an Ayurvedic formulation
Approximately 8 million to 2.3 million people worldwide have impaired vision due to uncorrected refractive error and cataract1. Hence the World Health Organization (WHO) has initiated Vision 2020 global program – “The right to...
Published by: IJHS Medical Association
Using UK Biobank for sexual minority health research
Aim: Despite poorer health and healthcare outcomes experienced by lesbian, gay and bisexual adults, data for research to characterize and address these disparities remain limited. Patients & methods: We describe sexual history...
Using UK Biobank for sexual minority health research.
Aim: Despite poorer health and healthcare outcomes experienced by lesbian, gay and bisexual adults, data for research to characterize and address these disparities remain limited. Patients & methods: We describe sexual history...
Genetically predicted plasma phospholipid arachidonic acid concentrations and 10 site-specific cancers in UK biobank and genetic consortia participants
Susanna C Larsson, Paul Carter, Mathew Vithayathil, Amy M Mason, Karl Michaëlsson, John A Baron, Stephen Burgess
Nov 03, 2020
BACKGROUND & AIMS: Arachidonic acid (AA) is metabolized by cyclooxygenases and lipoxygenases to pro-inflammatory eicosanoids, which according to experimental research modulate tumor cell proliferation, differentiation, and...
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...
The epidemiology of low vision and blindness associated with trichiasis in southern Sudan.
Jeremiah Ngondi, Mark Reacher, Fiona Matthews, Francis Ole-Sempele, Alice Onsarigo, Ibrahim Matende, Samson Baba, Carol Brayne, Paul Emerson
Jun 16, 2011
BACKGROUND: We investigated vision status associated with trachomatous trichiasis (TT) and explored age-sex patterns of low vision and blindness associated with trichiasis in Mankien district of southern Sudan where trachoma...
Iron Status and Cancer Risk in UK Biobank
Shuai Yuan, Paul Carter, Mathew Vithayathil, Siddhartha Kar, Edward Giovannucci, Amy M. Mason, Stephen Burgess, Susanna C. Larsson
Feb 20, 2020
We conducted a two-sample Mendelian randomization study to explore the associations of iron status with overall cancer and 22 site-specific cancers. Single-nucleotide polymorphisms for iron status were obtained from a...
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...
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