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Genotype-Based Reca...
Genotype-Based Recall Studies in Complex Cardiometabolic Traits
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- Franks, Paul W. (författare)
- Umeå universitet,Umeå University,Lund University,Lunds universitet,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups,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,Harvard University,Avdelningen för medicin
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- Timpson, Nicholas J. (författare)
- University of Bristol
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(creator_code:org_t)
- Lippincott Williams & Wilkins, 2018
- 2018
- Engelska.
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Ingår i: Circulation: Genomic and Precision Medicine. - : Lippincott Williams & Wilkins. - 2574-8300. ; 11:8, s. 001947-001947
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Kardiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cardiac and Cardiovascular Systems (hsv//eng)
Nyckelord
- clinical trial
- environmental exposure
- genetic association studies
- random allocation
- research design
- clinical trial
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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