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Genotype-Based Recall Studies in Complex Cardiometabolic Traits
Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Section of Medicine. Department of Clinical Sciences, Genetic and Molecular Epidemiology Unit, Lund University Diabetes Centre, Skåne University Hospital, Malmö, Sweden; Oxford Centre for Diabetes, Endocrinology, and Metabolism, University of Oxford, United Kingdom; Department of Nutrition, Harvard TH Chan School of Public Health, Boston, MA.
2018 (English)In: Circulation: Genomic and Precision Medicine, ISSN 2574-8300, Vol. 11, no 8, article id e001947Article, review/survey (Refereed) Published
Abstract [en]

In genotype-based recall (GBR) studies, people (or their biological samples) who carry genotypes of special interest for a given hypothesis test are recalled from a larger cohort (or biobank) for more detailed investigations. There are several GBR study designs that offer a range of powerful options to elucidate (1) genotype-phenotype associations (by increasing the efficiency of genetic association studies, thereby allowing bespoke phenotyping in relatively small cohorts), (2) the effects of environmental exposures (within the Mendelian randomization framework), and (3) gene-treatment interactions (within the setting of GBR interventional trials). In this review, we overview the literature on GBR studies as applied to cardiometabolic health outcomes. We also review the GBR approaches used to date and outline new methods and study designs that might enhance the utility of GBR-focused studies. Specifically, we highlight how GBR methods have the potential to augment randomized controlled trials, providing an alternative application for the now increasingly accepted Mendelian randomization methods usually applied to large-scale population-based data sets. Further to this, we consider how functional and basic science approaches alongside GBR designs offer intellectually intriguing and potentially powerful ways to explore the implications of alterations to specific (and potentially druggable) biological pathways.

Place, publisher, year, edition, pages
Lippincott Williams & Wilkins, 2018. Vol. 11, no 8, article id e001947
Keywords [en]
clinical trial, environmental exposure, genetic association studies, random allocation, research design
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:umu:diva-152272DOI: 10.1161/CIRCGEN.118.001947ISI: 000444529200001OAI: oai:DiVA.org:umu-152272DiVA, id: diva2:1252582
Funder
Swedish Heart Lung FoundationNovo NordiskSwedish Research CouncilSwedish Foundation for Strategic Research EU, European Research Council, CoG-2015_681742_NASCENTAvailable from: 2018-10-02 Created: 2018-10-02 Last updated: 2019-05-17Bibliographically approved

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Franks, Paul W.

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CiteExportLink to record
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