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Genotype-Based Recall Studies in Complex Cardiometabolic Traits

Franks, Paul W. LU and Timpson, Nicholas J. (2018) In Circulation: Genomic and Precision Medicine 11(8). p.001947-001947
Abstract

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... (More)

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.

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author
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organization
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type
Contribution to journal
publication status
published
subject
keywords
clinical trial, environmental exposure, genetic association studies, random allocation, research design
in
Circulation: Genomic and Precision Medicine
volume
11
issue
8
pages
001947 - 001947
publisher
Lippincott Williams & Wilkins
external identifiers
  • pmid:30354344
  • scopus:85055605559
ISSN
2574-8300
DOI
10.1161/CIRCGEN.118.001947
language
English
LU publication?
yes
id
55dffc12-5b74-47d4-a551-8ea9bc0814f4
date added to LUP
2018-11-19 11:30:31
date last changed
2021-09-15 05:41:47
@article{55dffc12-5b74-47d4-a551-8ea9bc0814f4,
  abstract     = {<p>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.</p>},
  author       = {Franks, Paul W. and Timpson, Nicholas J.},
  issn         = {2574-8300},
  language     = {eng},
  number       = {8},
  pages        = {001947--001947},
  publisher    = {Lippincott Williams & Wilkins},
  series       = {Circulation: Genomic and Precision Medicine},
  title        = {Genotype-Based Recall Studies in Complex Cardiometabolic Traits},
  url          = {http://dx.doi.org/10.1161/CIRCGEN.118.001947},
  doi          = {10.1161/CIRCGEN.118.001947},
  volume       = {11},
  year         = {2018},
}