UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age Cathie Sudlow1,2, John Gallacher3, Naomi Allen2,4, Valerie Beral4, Paul Burton5, John Danesh6, Paul Downey7, Paul Elliott7, Jane Green4, Martin Landray4, Bette Liu8, Paul Matthews7, Giok Ong9, Jill Pell10, Alan Silman11, Alan Young4, Tim Sprosen4, Tim Peakman2, Rory Collins2,4* 1 University of Edinburgh, Edinburgh, United Kingdom, 2 UK Biobank, Stockport, United Kingdom, 3 University of Cardiff, Cardiff, United Kingdom, 4 University of Oxford, Oxford, United Kingdom, 5 University of Bristol, Bristol, United Kingdom, 6 University of Cambridge, Cambridge, United Kingdom, 7 Imperial College, London, United Kingdom, 8 University of New South Wales, Sydney, Australia, 9 University of Warwick, Warwick, United Kingdom, 10 University of Glasgow, Glasgow, United Kingdom, 11 University of Manchester, Manchester, United Kingdom * enquiries@ukbiobank.ac.uk Copyright: © 2015 Sudlow et al. The challenge of understanding the determinants of common life-threatening and disabling conditions is substantial. These conditions are typically caused by a combination of lifestyle, environmental, and genomic factors, with individually modest effects and complex interactions, the detection and quantification of which require studies with large numbers of disease cases. While retrospective case-control studies of particular diseases [1] or existing prospective studies of particular risk factors can help to address this challenge [2,3], a complementary approach is to establish large prospective cohorts designed to study a much wider range of known and novel risk factors for a wide range of diseases [4]. Prospective studies can assess exposures before the onset and treatment of disease, diseases that are not readily investigated by retrospective studies, and both the adverse and beneficial effects of a specific exposure on the lifetime risks of different diseases. UK (United Kingdom) Biobank is a very large, population-based prospective study, established to allow detailed investigations of the genetic and nongenetic determinants of the diseases of middle and old age [5,6]. It aims to combine extensive and precise assessment of exposures with comprehensive follow-up and characterisation of many different health-related outcomes, as well as to promote innovative science by maximising access to the resource. Recruitment of Page 22 of 56 www.investinme.org Summary Points • UK Biobank is a very large and detailed prospective study with over 500,000 participants aged 40–69 years when recruited in 2006–2010. • The study has collected and continues to collect extensive phenotypic and genotypic detail about its participants, including data from questionnaires, physical measures, sample assays, accelerometry, multimodal imaging, genome-wide genotyping and longitudinal follow-up for a wide range of health-related outcomes. • Wide consultation; input from scientific, management, legal, and ethical partners; and industrial-scale, centralised processes have been essential to the development of this resource. • UK Biobank is available for open access, without the need for collaboration, to any bona fide researcher who wishes to use it to conduct healthrelated research for the benefit of the public. 500,000 participants and the collection of an unprecedented wealth of baseline data and samples were completed in 2010. Activity is now focused on further phenotyping of participants and their health outcomes and on providing access to researchers from around the world. Cohort Size The large size of the cohort was based on statistical power calculations for nested case-control studies [7], showing that 5,000–10,000 cases of any particular condition would be required for the reliable detection of odds ratios (ORs) for the main effects of different exposures of 1.3–1.5 (the upper end of the range reported from genomewide association studies of various conditions [8]), and around 20,000 cases for detection of interactions with ORs of at least 2.0. To observe such large numbers of cases of particular diseases within a reasonable follow-up period, prospective cohorts need very large numbers of participants. Projected numbers of cases of a range of common conditions expected to occur among 500,000 UK Biobank participants during 20 years of follow-up (Table 1) suggest that reliable assessment of the main determinants of most of these conditions (and others that are similarly common) should be possible during the current decade [6,9]. The age range for inclusion of 40–69 years represented a pragmatic compromise between participants being old enough for there to be sufficient incident health outcomes during the early Invest in ME research (Charity Nr. 1153730)

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