Cardiovascular Pharmacogenomics: An Update on Clinical Studies of Antithrombotic Drugs in Brazilian Patients.
Thiago Dominguez Crespo HirataCarolina Dagli HernandezFabiana Dalla Vecchia GenvigirVolker Martin LauschkeYitian ZhouMario Hiroyuki HirataRosario Dominguez Crespo HirataPublished in: Molecular diagnosis & therapy (2021)
Anticoagulant and antiplatelet drugs effectively prevent thrombotic events in patients with cardiovascular diseases, ischemic stroke, peripheral vascular diseases, and other thromboembolic diseases. However, genetic and non-genetic factors affect the response to antithrombotic therapy and can increase the risk of adverse events. This narrative review discusses pharmacogenomic studies on antithrombotic drugs commonly prescribed in Brazil. Multiple Brazilian studies assessed the impact of pharmacokinetic (PK) and pharmacodynamic (PD) gene variants on warfarin response. The reduced function alleles CYP2C9*2 and CYP2C9*3, and VKORC1 rs9923231 (c.-1639G>A) are associated with increased sensitivity to warfarin and a low dose requirement to prevent bleeding episodes, whereas CYP4F2 rs2108622 (p.Val433Met) carriers have higher dose requirements (warfarin resistance). These deleterious variants and non-genetic factors (age, gender, body weight, co-administered drugs, food interactions, and others) account for up to 63% of the warfarin dose variability. Few pharmacogenomics studies have explored antiplatelet drugs in Brazilian cohorts, finding associations between CYP2C19*2, PON1 rs662 and ABCC3 rs757421 genotypes and platelet responsiveness or clopidogrel PK in subjects with coronary artery disease (CAD) or acute coronary syndrome (ACS), whereas ITGB3 contributes to aspirin PK but not platelet responsiveness in diabetic patients. Brazilian guidelines on anticoagulants and antiplatelets recommend the use of a platelet aggregation test or genotyping only in selected cases of ACS subjects without ST-segment elevation taking clopidogrel, and also suggest CYP2C9 and VKORC1 genotyping before starting warfarin therapy to assess the risk of bleeding episodes or warfarin resistance.
Keyphrases
- atrial fibrillation
- acute coronary syndrome
- percutaneous coronary intervention
- genome wide
- oral anticoagulants
- direct oral anticoagulants
- copy number
- low dose
- antiplatelet therapy
- coronary artery disease
- body weight
- venous thromboembolism
- heart failure
- cardiovascular disease
- case control
- end stage renal disease
- coronary artery bypass grafting
- clinical decision support
- chronic kidney disease
- mental health
- high dose
- newly diagnosed
- type diabetes
- dna methylation
- adverse drug
- transcription factor
- left ventricular
- cardiovascular events
- prognostic factors
- mesenchymal stem cells
- bone marrow
- cell therapy
- human health