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Paul Franks

Paul Franks

Principal investigator

Paul Franks

Genotype-based recall to study metabolic effects of genetic variation : a pilot study of PPARG Pro12Ala carriers


  • Prasad G. Kamble
  • Stefan Gustafsson
  • Maria J. Pereira
  • Per Lundkvist
  • Naomi Cook
  • Lars Lind
  • Paul W. Franks
  • Tove Fall
  • Jan W. Eriksson
  • Erik Ingelsson

Summary, in English

Aim: To assess practical implications of genotype-based recall (GBR) studies, an increasingly popular approach for in-depth characterization of genotype–phenotype relationships. Methods: We genotyped 2500 participants from the Swedish EpiHealth cohort and considered loss-of-function and missense variants in genes with relation to cardiometabolic traits as the basis for our GBR study. Therefore, we focused on carriers and non-carriers of the PPARG Pro12Ala (rs1801282) variant, as it is a relatively common variant with a minor allele frequency (MAF) of 0.14. It has also been shown to affect ligand binding and transcription, and carriage of the minor allele (Ala12) is associated with a reduced risk of type 2 diabetes. We re-invited 39 Pro12Pro, 34 Pro12Ala, and 30 Ala12Ala carriers and performed detailed anthropometric and serological assessments. Results: The participation rates in the GBR study were 31%, 44%, and 40%, and accordingly we included 12, 15, and 13 individuals with Pro12Pro, Pro12Ala, and Ala12Ala variants, respectively. There were no differences in anthropometric or metabolic variables among the different genotype groups. Conclusions: Our report highlights that from a practical perspective, GBR can be used to study genotype–phenotype relationships. This approach can prove to be a valuable tool for follow-up findings from large-scale genetic discovery studies by undertaking detailed phenotyping procedures that might not be feasible in large studies. However, our study also illustrates the need for a larger pool of genotyped or sequenced individuals to allow for selection of rare variants with larger effects that can be examined in a GBR study of the present size.


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

Publishing year







Upsala Journal of Medical Sciences





Document type

Journal article


Taylor & Francis


  • Medical Genetics


  • Genotype-based recall
  • metabolism
  • PPARG Pro12Ala



Research group

  • Genetic and Molecular Epidemiology


  • ISSN: 0300-9734