Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

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...
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
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...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Integrated multi-omics identifies distinct macrophage alterations during progression of metabolic dysfunction-associated steatohepatitis.

Nature genetics·2026
Same author

HLA-B*44 Alleles and HLA-DQA1*03:01 as Genetic Risk Factors for Drug-Induced Liver Injury due to Fluoroquinolones.

Liver international : official journal of the International Association for the Study of the Liver·2026
Same author

The 8th European Society of Pharmacogenomics and Personalized Therapy (ESPT) congress.

Pharmacogenomics·2026
Same author

Usefulness of plasma bile acid profile as a prognostic biomarker for drug-induced liver injury.

EBioMedicine·2026
Same author

Common variation at 1q23.3, 2p23.3, 2q33.3, and 2p21 influences the risk of acute myeloid leukemia.

Blood·2026
Same author

Germline Variants Influence Chronic Liver Disease Progression through Distinct Pathways.

medRxiv : the preprint server for health sciences·2025

Related Experiment Video

Updated: Jun 11, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

Pharmacogenetics and human genetic polymorphisms.

Ann K Daly1

  • 1Institute of Cellular Medicine, Newcastle University Medical School, UK. a.k.daly@ncl.ac.uk

The Biochemical Journal
|July 15, 2010
PubMed
Summary
This summary is machine-generated.

Pharmacogenetics studies how genetic factors influence drug responses. Advances in understanding drug metabolism and targets are improving patient care and predicting adverse drug reactions.

More Related Videos

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
06:21

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

Related Experiment Videos

Last Updated: Jun 11, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
06:21

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

Area of Science:

  • Pharmacogenetics
  • Genomics
  • Drug Metabolism
  • Adverse Drug Reactions

Background:

  • Pharmacogenetics, the study of genetic factors influencing drug response, has roots in observations from the 1950s.
  • Early clinical data revealed variable patient responses to drugs like isoniazid, primaquine, and succinylcholine.
  • Significant progress has been made in understanding genetic influences on drug disposition and metabolism.

Purpose of the Study:

  • To review the historical development and current understanding of pharmacogenetics.
  • To highlight the molecular basis of variable drug metabolism and drug targets.
  • To examine the genetic underpinnings of adverse drug reactions and their clinical implications.

Main Methods:

  • Review of historical clinical data and scientific literature.
  • Analysis of molecular mechanisms for drug metabolism (cytochromes P450, glucuronidation, acetylation, methylation).
  • Investigation of genetic polymorphisms in drug targets (receptors, enzymes, ion channels, transporters).
  • Application of Genome-Wide Association Studies (GWAS) to identify novel pharmacogenetic associations.

Main Results:

  • Comprehensive understanding of genetic variations affecting drug metabolism by key enzyme systems.
  • Established clinical importance of polymorphisms in genes for beta-adrenergic receptors and vitamin K epoxide reductase.
  • Identification of HLA genotype's role in skin and liver adverse reactions, and ion channel/transporter polymorphisms in cardiac and muscle reactions.
  • GWAS are successfully identifying new associations between genetic variations and drug response/adverse reactions.

Conclusions:

  • Pharmacogenetics has evolved significantly, providing molecular insights into drug response variability.
  • Knowledge of genetic factors influencing drug metabolism and targets is increasingly translated into clinical practice.
  • Genetic variations play a crucial role in susceptibility to adverse drug reactions, with ongoing discoveries through large-scale genetic studies.