Genetics and pharmacogenetics in interventional cardiology

Hillary Johnston-Cox, Johan L.M. Björkegren, Jason C. Kovacic

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review


Heritability accounts for the number of observed differences in a disease trait because of inherited genetic differences between people. This chapter focuses on reviewing the genetics of coronary artery disease (CAD) as relevant to interventional cardiology, discussing limitations to genomewide association studies (GWAS) and the knowledge gained so far, and finally proposing future directions for identifying the presently unknown genetic aspects of CAD and how this knowledge might be useful in the clinic and catheterization laboratory. The development of more complete DNA sequencing techniques, such as whole exome/whole genome sequencing (WES/WGS) generally applied to case-control cohorts as in GWAS, could be used as a tool to identify additional rare risk variants that might have more described. Warfarin is widely used for the treatment and prevention of thromboembolic diseases, but is characterized by its narrow therapeutic index, individual variability in response, and requirement for cautious patient selection and frequent adjustment for therapeutic dosing.

Original languageEnglish
Title of host publicationInterventional Cardiology
Subtitle of host publicationPrinciples and Practice
Number of pages10
ISBN (Electronic)9781118983652
ISBN (Print)9781118976036
StatePublished - 21 Nov 2016


  • Catheterization laboratory
  • Coronary artery disease
  • DNA sequencing techniques
  • Genomewide association studies
  • Inherited genetic differences
  • Interventional cardiology
  • Pharmacogenetics
  • Therapeutic index
  • Thromboembolic diseases
  • Warfarin


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