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

Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

191
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...
191
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

137
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...
137
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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

157
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...
157
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes01:28

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

337
Cytochrome P450 (CYP450) enzymes are a superfamily of heme-containing monooxygenases that play a pivotal role in Phase I drug metabolism by catalyzing oxidation and reduction reactions.These enzymes transform lipophilic xenobiotics into more hydrophilic metabolites, facilitating subsequent Phase II conjugation and eventual excretion. The CYP450 family is classified into families (e.g., CYP1–CYP3) and subfamilies (e.g., CYP2A, CYP2C), based on amino acid sequence homology.CYP450...
337
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

248
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...
248
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

119
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...
119

You might also read

Related Articles

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

Sort by
Same author

Preoperative breast MRI and long-term survival in ductal carcinoma in situ: a propensity score-weighted analysis.

European radiology·2026
Same author

Meta-Analysis of Genetic Variants Associated With HBV Infection Susceptibility and Hepatocellular Carcinoma Risk.

Journal of viral hepatitis·2026
Same author

Long-term prognostic implications of AI-detected versus AI-undetected breast cancers on mammography: a propensity score-matched analysis.

European radiology·2026
Same author

A Real-World Efficacy and Safety of KEYNOTE-522 Regimen in Patients With Early Triple-Negative Breast Cancer.

Journal of breast cancer·2026
Same author

Implant-displacement views alone for breast cancer screening in women with implants: a multicenter retrospective study.

European radiology·2026
Same author

Interreader Agreement and Diagnostic Confidence in Discriminating Masses and Nonmass Lesions at Breast US.

Radiology·2025

Related Experiment Video

Updated: Apr 28, 2026

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
06:21

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer

Published on: May 10, 2024

1.6K

Screening for 392 polymorphisms in 141 pharmacogenes.

Jason Yongha Kim1, Hyun Sub Cheong2, Tae-Joon Park1

  • 1Department of Life Science, Sogang University, SNP Genetics, Inc., Seoul 121-742, Republic of Korea.

Biomedical Reports
|June 20, 2014
PubMed
Summary
This summary is machine-generated.

This study analyzed 392 single-nucleotide polymorphisms (SNPs) in 141 pharmacogenes using high-throughput screening. The results provide allele distributions crucial for advancing personalized medicine through pharmacogenomic profiling.

Keywords:
gene screeningpharmacogenesingle-nucleotide polymorphism

More Related Videos

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

11.7K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

9.2K

Related Experiment Videos

Last Updated: Apr 28, 2026

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
06:21

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer

Published on: May 10, 2024

1.6K
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

11.7K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

9.2K

Area of Science:

  • Pharmacogenomics
  • Genetics
  • Drug Metabolism

Background:

  • Pharmacogenomics investigates genetic variations influencing drug responses.
  • Genotyping technologies are essential for pharmacogenomic research.
  • Understanding genetic associations with drug efficacy is key for personalized medicine.

Purpose of the Study:

  • To determine the allele distribution of 392 single-nucleotide polymorphisms (SNPs) in 141 pharmacogenes.
  • To assess the utility of high-throughput screening for pharmacogene genotyping.
  • To provide data supporting the development of personalized medicines.

Main Methods:

  • Genotyping of 392 SNPs across 141 pharmacogenes (Phase I, II, transporter, modifier genes) in 150 subjects.
  • Utilized GoldenGate assay and SNaPshot techniques for high-throughput SNP analysis.
  • Assessed Hardy-Weinberg equilibrium (HWE) and minor allele frequencies for all genotyped SNPs.

Main Results:

  • Genotyping successfully identified allele distributions for 392 SNPs in 141 pharmacogenes.
  • Identified 47 SNPs with minor allele frequencies <0.05 and 105 monomorphic SNPs.
  • 22 SNPs deviated from Hardy-Weinberg equilibrium, requiring careful interpretation.

Conclusions:

  • The study successfully determined SNP allele distributions in 141 pharmacogenes via high-throughput screening.
  • The generated data on pharmacogene polymorphisms can aid in the development of personalized drug therapies.
  • These findings contribute to the growing body of knowledge in pharmacogenomics for clinical applications.