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Related Concept Videos

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes01:28

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

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 isoenzymes,...
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...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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...
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 of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

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...

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Related Experiment Video

Updated: Jul 14, 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

CYP2S1 gene polymorphisms in a Korean population.

Yin-Jin Jang1, Eun-Young Cha, Woo-Young Kim

  • 1Department of Pharmacology, Inje University College of Medicine, Gaegum-dong, Jin-gu, Busan, Korea.

Therapeutic Drug Monitoring
|May 29, 2007
PubMed
Summary

Genetic variations in Cytochrome P450 2S1 (CYP2S1) were identified in Korean subjects. These CYP2S1 gene polymorphisms may help predict drug responses and disease outcomes.

Related Experiment Videos

Last Updated: Jul 14, 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

Area of Science:

  • Pharmacogenomics
  • Human Genetics
  • Enzyme Function

Background:

  • Cytochrome P450 2S1 (CYP2S1) is a key drug-metabolizing enzyme.
  • Interindividual variations in CYP2S1 influence treatment responses, such as in psoriasis.
  • CYP2S1 is a potential prognostic marker for colorectal cancer treatment outcomes.

Purpose of the Study:

  • To investigate the genetic basis of interindividual variations in CYP2S1.
  • To identify novel CYP2S1 gene polymorphisms in a Korean population.
  • To understand the implications of CYP2S1 genetic variations for drug response and disease prognosis.

Main Methods:

  • Direct sequencing of the CYP2S1 gene in 50 Korean subjects.
  • Identification and characterization of genetic variations, including novel mutations.
  • Homology modeling to predict the structural impact of mutations.
  • Linkage disequilibrium (LD) analysis to assess haplotype structures.

Main Results:

  • Twelve genetic variations in the CYP2S1 gene were identified.
  • Two novel nonsynonymous mutations, CYP2S1 S61N (0.3%) and CYP2S1 L230R (0.8%), were discovered.
  • The L230R mutation was predicted to be near conserved regions within the substrate-binding site.
  • LD analysis revealed two discrete LD blocks and a limited number of haplotypes.

Conclusions:

  • CYP2S1 gene polymorphisms contribute to interindividual variations in enzyme function.
  • Novel CYP2S1 variants and haplotypes warrant further investigation.
  • Understanding CYP2S1 polymorphisms can aid in predicting drug responses and disease prognosis.
  • This study provides valuable genetic information for personalized medicine approaches related to CYP2S1.