Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Pharmacogenetics and Pharmacogenomics: Overview

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 Milieu

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 Targets

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 Metabolism: Overview

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...

Principles of Pharmacogenetics: Types of Genetic Variants

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 Transporters: P-Glycoprotein and Solute Carrier Transporters

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...

You might also read

Related Articles

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

Sort by

Same author

Success and complication rates of two precut techniques, transpancreatic sphincterotomy and needle-knife sphincterotomy for bile duct cannulation.

Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract·2010

Same author

Effect of Medicaid coverage of tobacco-dependence treatments on smoking cessation.

International journal of environmental research and public health·2010

Same author

Cytokine and autoantibody patterns in acute liver failure.

Journal of immunotoxicology·2009

Same author

A novel scoring system for prognostic prediction in d-galactosamine/lipopolysaccharide-induced fulminant hepatic failure BALB/c mice.

BMC gastroenterology·2009

Same author

Mammalian target of rapamycin signaling pathway contributes to glioma progression and patients' prognosis.

The Journal of surgical research·2009

Same author

Estrogen receptor neurobiology and its potential for translation into broad spectrum therapeutics for CNS disorders.

Current molecular pharmacology·2009

Search research articles

Related Experiment Video

Updated: Jul 9, 2026

A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports

A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports

Published on: October 13, 2023

The pharmacogenetics and pharmacogenomics knowledge base: accentuating the knowledge.

Tina Hernandez-Boussard¹, Michelle Whirl-Carrillo, Joan M Hebert

¹Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.

Nucleic Acids Research

|November 23, 2007

Summary

PharmGKB is a comprehensive knowledge base detailing drug, disease, and gene interactions in pharmacokinetics (PK) and pharmacodynamics (PD). Recent updates enhance whole genome data handling and SNP array analysis for improved phenotype data management.

More Related Videos

Evidence-based Knowledge Synthesis and Hypothesis Validation: Navigating Biomedical Knowledge Bases via Explainable AI and Agentic Systems

Evidence-based Knowledge Synthesis and Hypothesis Validation: Navigating Biomedical Knowledge Bases via Explainable AI and Agentic Systems

Published on: June 13, 2025

Network Pharmacology Prediction and Experimental Validation of Trichosanthes-Fritillaria thunbergii Action Mechanism Against Lung Adenocarcinoma

Network Pharmacology Prediction and Experimental Validation of Trichosanthes-Fritillaria thunbergii Action Mechanism Against Lung Adenocarcinoma

Published on: March 3, 2023

Related Experiment Videos

Last Updated: Jul 9, 2026

A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports

A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports

Published on: October 13, 2023

Evidence-based Knowledge Synthesis and Hypothesis Validation: Navigating Biomedical Knowledge Bases via Explainable AI and Agentic Systems

Evidence-based Knowledge Synthesis and Hypothesis Validation: Navigating Biomedical Knowledge Bases via Explainable AI and Agentic Systems

Published on: June 13, 2025

Network Pharmacology Prediction and Experimental Validation of Trichosanthes-Fritillaria thunbergii Action Mechanism Against Lung Adenocarcinoma

Network Pharmacology Prediction and Experimental Validation of Trichosanthes-Fritillaria thunbergii Action Mechanism Against Lung Adenocarcinoma

Published on: March 3, 2023

Area of Science:

Pharmacogenomics
Bioinformatics
Computational Biology

Background:

PharmGKB serves as a crucial resource for understanding the relationships between drugs, diseases/phenotypes, and genes.
It integrates literature annotations, primary data, pathways, and expert summaries for pharmacokinetic (PK) and pharmacodynamic (PD) relationships.
The existing PharmGKB database covers over 500 drugs, 450 diseases, and 600 variant genes.

Purpose of the Study:

To enhance PharmGKB's capabilities for handling large-scale genomic data.
To improve the integration and querying of genetic variation data, including variants outside of genes.
To facilitate better cataloging and comparison of phenotype data.

Main Methods:

Implemented new infrastructure for whole genome data processing and quality control.
Developed tools for comparing PharmGKB data with external sources like dbSNP, JSNP, and HapMap.
Added functionality to accept, store, display, and query high-throughput SNP array data.

Main Results:

Enhanced browsing of variant data by chromosomal and cytogenetic locations.
Improved capacity for managing and analyzing whole genome and SNP array data.
Enabled more structured capture and comparison of phenotype information.

Conclusions:

PharmGKB has expanded its utility for whole genome studies through new data handling functionalities.
The updated platform supports more comprehensive pharmacogenomic research by integrating diverse genetic data.
These advancements facilitate a deeper understanding of genotype-phenotype-drug relationships.