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Paul Franks

Paul Franks

Principal investigator

Paul Franks

Genotype-Based Recall Studies in Complex Cardiometabolic Traits


  • Paul W. Franks
  • Nicholas J. Timpson

Summary, in English

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.


  • Genetic and Molecular Epidemiology
  • EpiHealth: Epidemiology for Health
  • EXODIAB: Excellence in Diabetes Research in Sweden

Publishing year







Circulation: Genomic and Precision Medicine





Document type

Journal article


Lippincott Williams & Wilkins


  • Medical Genetics
  • Cardiac and Cardiovascular Systems


  • clinical trial
  • environmental exposure
  • genetic association studies
  • random allocation
  • research design



Research group

  • Genetic and Molecular Epidemiology


  • ISSN: 2574-8300