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Related Concept Videos

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...
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 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,...
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase01:27

Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase

Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
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...
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...

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CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM

Andrea Gaedigk1, Erin C Boone2, Steven E Scherer3

  • 1Division of Clinical Pharmacology, Toxicology and Therapeutic Innovation, Children's Mercy Kansas City, Kansas City, Missouri; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri.

The Journal of Molecular Diagnostics : JMD
|February 8, 2022
PubMed
Summary

Next-generation sequencing (NGS) identified novel pharmacogenetic alleles missed by targeted tests. This advanced sequencing improves accuracy in predicting drug response and patient care by uncovering previously unknown genetic variations.

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Area of Science:

  • Pharmacogenomics
  • Genetics
  • Molecular Biology

Background:

  • Targeted genotyping assays for pharmacogenetics often use star (*) allele nomenclature.
  • These assays may miss novel variants, impacting phenotype prediction and patient care.

Purpose of the Study:

  • To recharacterize DNA samples using targeted and whole genome sequencing.
  • To identify novel alleles and resolve ambiguous genotype calls in CYP2C8, CYP2C9, and CYP2C19.

Main Methods:

  • Utilized targeted and whole genome sequencing on 137 DNA samples previously characterized by GeT-RM.
  • Applied three genotype calling tools to analyze sequence data for star allele diplotypes.
  • Employed next-generation sequencing (NGS) and long-read NGS data.

Main Results:

  • NGS correlated well with previous genotype calls, except when novel alleles were present.
  • Identified six novel alleles and 38 novel suballeles across CYP2C8, CYP2C9, and CYP2C19.
  • Resolved several ambiguous genotype calls using NGS data.

Conclusions:

  • NGS is highly valuable for pharmacogenetic testing, revealing numerous novel alleles.
  • Even well-studied genes like CYP2C9 and CYP2C19 harbor undiscovered variants.
  • Advanced sequencing methods enhance the precision of pharmacogenetic diagnostics.