Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference
Year: 2018
Type: article
Abstract: Detailed phenotyping is required to deepen our understanding of the biological mechanisms behind genetic associations. In addition, the impact of potentially modifiable risk factors on disease requires analytical frameworks that allow causal inference. Here, we discuss the characteristics of Recall-by-Genotype (RbG) as a study design aimed at addressing both these needs. We describe two broad scenarios for the application of RbG: studies using single variants and those using multiple variants. We consider the efficacy and practicality of the RbG approach, provide a catalogue of UK-based resources for such studies and present an online RbG study planner.
Source: Nature Communications
Authors: Laura J. Corbin, Vanessa Y. Tan, David A. Hughes, Kaitlin H. Wade, Dirk S. Paul, Katherine E. Tansey, Frances Butcher, Frank Dudbridge, Joanna M. Howson, Momodou W. Jallow, Catherine John, Nathalie Kingston, Cecilia M. Lindgren, Michael O’Donavan, Stephen O’Rahilly, Michael J. Owen, Colin N. A. Palmer, Ewan R. Pearson, Robert A. Scott, David A. van Heel, John Whittaker, Tim Frayling, Martin D. Tobin, Louise V. Wain, George Davey Smith, David M. Evans, Fredrik Karpe, Mark I. McCarthy, John Danesh, Paul W. Franks, Nicholas J. Timpson
Institutions: University of Bristol, MRC Integrative Epidemiology Unit, University of Cambridge, British Heart Foundation, Addenbrooke's Hospital, Cardiff University, University of Oxford, University of Leicester, London School of Hygiene & Tropical Medicine, MRC Unit the Gambia, National Institute for Health and Care Research, NIHR BioResource, Broad Institute, Centre for Human Genetics, NIHR Oxford Biomedical Research Centre, Wellcome/MRC Institute of Metabolic Science, University of Dundee, Ninewells Hospital, GlaxoSmithKline (United Kingdom), Queen Mary University of London, Blizard Institute, GlaxoSmithKline (United States), University of Exeter, Royal Devon and Exeter Hospital, Glenfield Hospital, NIHR Leicester Biomedical Research Centre, Translational Research Institute, The University of Queensland, Churchill Hospital, Oxford Centre for Diabetes, Endocrinology and Metabolism, Wellcome Sanger Institute, Harvard University, Lund University, Skåne University Hospital, Umeå University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $6,990
Funders: GlaxoSmithKline, Li Ka Shing Foundation, Wellcome Trust, Cancer Research UK, National Institute for Health and Care Research, British Heart Foundation, British Lung Foundation, University of Leicester, European Commission, University of Sheffield, University of Bristol, Cambridge University Hospitals, Vetenskapsrådet, Novo Nordisk Fonden, National Institutes of Health, Medical Research Council, NIHR Oxford Biomedical Research Centre, NIHR Cambridge Biomedical Research Centre, National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of Neurological Disorders and Stroke, H2020 European Research Council
Awards: G1131969086, G1192034430, Large-scale genomic epidemiology approaches to study the natural history of lung function and COPD, G1335979935, Characterising the shared and disease-specific genetic determinants of asthma and COPD, G149876332, G1605161196, G1671907826, Institutional Strategic Support Fund PHASE 2 FY2014/16, G173885373, NIHR Senior Investigator Award, G1805177159, NIHR Senior Investigator Award, G1891855903, G1953244154, G1987169411, G2050459141, G2158889896, Identification of epigenetic markers underlying increased risk of T2D in South Asians, G2242216278, Collaborative pooled analysis of data on C-reactive protein gene variants and coronary disease, G235045266, G2474488143, Institutional Strategic Support Fund PHASE 2 FY2014/16, Characterising causal alleles for common disease., East London Genes & Health: human knockouts in a population genomic medicine cohort of British-South Asians, G2588136129, Novel Approach to Systematically Characterize Exercise- and Nutrient- responsive genes in Type 2 diabetes and cardiovascular disease, G2642749895, Large-scale genomic epidemiology approaches to study the natural history of lung function and COPD, G301055538, NIHR Senior Investigator Award, G3288322216, G3324857148, G3344456887, G3831911591, G3986547339, G4073969003, G4211044638, G4301517698, Investigation of gene-lifestyle interactions on risk of confirmed first-ever myocardial infarction in South Asians: a genome-wide association study in a Pakistani population., G4426574518, The Avon Longitudinal Study for Parents and Children: An international resource for population genomic and lifecourse epidemiology. Core programme support 2014-2019., Institute of Metabolic Science., What lies behind the causal impact of body mass index (BMI) level and change on human health? Added value from complementary study design and deep metabolomic phenotyping., G485517832, G4926237837, G5001017760, Large-scale studies of metabolic risk factors in coronary heart disease, Integrating genome-scale data to reveal causal mechanisms in type 2 diabetes, G5562631338, G5618924097, G567012254, NIHR Senior Investigator Award, G5857625837, G5957994314, G6119919417, Defining the molecular and physiological mechanisms of pancreatic islet dysfunction which lead to type 2 diabetes, G6268393733, G6423108142, EPIC-CVD: Individualised CVD risk assessment: tailoring targeted and cost-effective approaches to Europe's diverse populations, G6635283866, G6654704239, G6680420078, G6682065591, G6689231961, G6995430370, Understanding the genetic basis of common human diseases: core funding for the Wellcome Trust Centre for Human Genetics., G7227452977, The BHF Chair of Epidemiology and Medicine, The Impact of Human Gene Knockouts in Type 2 Diabetes and Related Traits, Large-scale integrative studies of risk factors in coronary heart disease: from discovery to application (renewal). (Joint funding with MRC), G762219591, Using genetics to explore the pathophysiology of cerebral small vessel disease. 15, G76752795, G7828794151, G7939076303, G7992221752, Research Excellence, G804990870, G8131818847, G8197964739, G8210105357, What lies behind the causal impact of body mass index (BMI) level and change on human health? Added value from complementary study design and deep metabolomic phenotyping., A systematic approach to understanding the biology underpinning GWAS hits., G8392101073, G8585681489, A systematic approach to understanding the biology underpinning GWAS hits., G8645943772, Head injury: monitoring and optimising cerebral metabolism to improve outcome, Large-scale integrative studies of risk factors in coronary heart disease: from discovery to application
OpenAlex ID: W2784963496