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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...
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 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 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,...
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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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High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
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Inter-ethnic variability of three functional polymorphisms affecting the IMPDH2 gene.

Anne Garat1, Christian Lacks Lino Cardenas, Arnaud Lionet

  • 1Equipe D'accueil 4483, Faculté de Médecine de Lille, Pôle Recherche, 1 place de Verdun, 59045 Lille Cedex, France.

Molecular Biology Reports
|December 25, 2010
PubMed
Summary

Genetic variations in the IMPDH2 gene, particularly the IVS7+10T>C polymorphism, show significant ethnic differences. These findings may help personalize immunosuppressant and antiviral drug treatments.

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Published on: March 6, 2019

Area of Science:

  • Pharmacogenomics
  • Molecular Biology
  • Human Genetics

Background:

  • Human type II inosine monophosphate dehydrogenase (IMPDH2) is crucial for purine synthesis and a target for immunosuppressants and antivirals.
  • Single Nucleotide Polymorphisms (SNPs) in IMPDH2 may influence drug efficacy and patient response.
  • Understanding IMPDH2 genetic variations is vital for optimizing therapeutic outcomes.

Purpose of the Study:

  • To investigate the frequencies of three specific IMPDH2 gene polymorphisms (g.3375C>T, c.-95T>G, and IVS7+10T>C) across diverse ethnic groups.
  • To analyze the ethnic distribution and potential clinical relevance of these IMPDH2 variants.
  • To provide data that could inform personalized medicine approaches for IMPDH inhibitor drugs.

Main Methods:

  • Genotyping of three IMPDH2 polymorphisms (g.3375C>T, c.-95T>G, IVS7+10T>C) using established molecular techniques.
  • Population sampling included Caucasians (French), Tunisians, Peruvians, and Black Africans (Gabonese, Senegalese).
  • Allele frequencies were calculated and compared across the studied ethnic groups.

Main Results:

  • The g.3375C>T and c.-95T>G polymorphisms were found to be rare (Minor Allele Frequency ≤1.0%) across all populations.
  • The IVS7+10T>C polymorphism exhibited significant interethnic variability, with frequencies ranging from 14.6% in French Caucasians to less than 2% in Black African and Peruvian populations.
  • These ethnic-specific frequencies highlight differential genetic landscapes in IMPDH2.

Conclusions:

  • The IVS7+10T>C polymorphism's varied distribution across ethnicities is a key finding.
  • This data can contribute to understanding clinical outcome variability and guiding dose adjustments for IMPDH inhibitor drugs, such as mycophenolic acid.
  • Personalized pharmacogenomic strategies based on IMPDH2 genotypes may improve treatment efficacy and safety.