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Related Concept Videos

Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Genetic Material01:20

Genetic Material

Within the human body, a complex and detailed system of trillions of cells works in unison to sustain life. Each cell houses a nucleus, which contains 46 chromosomes divided into 23 pairs. Chromosomes are highly coiled structures made of the genetic material DNA. These chromosomes are essential carriers of genetic information, with half inherited from the mother through her egg and the other half from the father's sperm, combining to create the unique genetic makeup of an individual.
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Genetic considerations.

Matthew J Price1

  • 1Cardiac Catheterization Laboratory, Division of Cardiovascular Diseases, Scripps Clinic, La Jolla, CA, USA. price.matthew@scrippshealth.org

Advances in Cardiology
|August 22, 2012
PubMed
Summary
This summary is machine-generated.

Genetic variations in CYP2C19 affect clopidogrel

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Area of Science:

  • Pharmacogenomics
  • Cardiovascular Medicine
  • Clinical Pharmacology

Background:

  • Dual antiplatelet therapy (DAPT) with aspirin and a P2Y12 inhibitor is standard for acute coronary syndrome (ACS) and percutaneous coronary intervention (PCI).
  • CYP2C19 genetic polymorphisms leading to loss of function are associated with reduced clopidogrel efficacy and increased cardiovascular events, especially stent thrombosis.
  • The impact of CYP2C19 genotype on newer P2Y12 inhibitors like prasugrel and ticagrelor appears minimal, though they carry increased bleeding risks.

Purpose of the Study:

  • To review the impact of genetic polymorphisms, particularly CYP2C19, on antiplatelet therapy response in ACS patients.
  • To evaluate the clinical implications of these genetic variations on cardiovascular event risk and bleeding.
  • To explore the potential of a pharmacogenomic-guided approach to optimize antiplatelet therapy.

Main Methods:

  • Review of candidate gene and genome-wide association studies.
  • Analysis of meta-analyses from registries and genetic substudies of randomized clinical trials.
  • Comparison of clopidogrel response with CYP2C19 genotype versus newer P2Y12 inhibitors.

Main Results:

  • CYP2C19 loss-of-function polymorphisms reduce clopidogrel's active metabolite exposure and antiplatelet effect.
  • Carriers of these polymorphisms treated with clopidogrel show higher risks of cardiovascular events and stent thrombosis, particularly in PCI patients.
  • The effect of CYP2C19 genotype on prasugrel and ticagrelor efficacy seems negligible, but these drugs increase bleeding risk.

Conclusions:

  • CYP2C19 genotype influences clopidogrel's effectiveness and safety in ACS patients.
  • A pharmacogenomic-guided strategy for antiplatelet therapy in ACS may balance ischemic benefits and bleeding risks.
  • Further randomized clinical trial data are needed to confirm the utility of genotype-guided antiplatelet selection.