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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 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...
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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...
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,...
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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...

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Updated: Jun 20, 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

Candidate gene polymorphisms for ischemic stroke.

Mar Matarin1, W Mark Brown, Hernandez Dena

  • 1Molecular Genetics Section, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

Stroke
|September 5, 2009
PubMed
Summary
This summary is machine-generated.

Genetic variants in candidate genes do not significantly predict ischemic stroke (IS) risk in a North American population. This study found no strong genetic associations for IS, suggesting potential weak effects or population-specific influences.

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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

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Last Updated: Jun 20, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
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A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Area of Science:

  • Genetics
  • Neurology
  • Epidemiology

Background:

  • Ischemic stroke (IS) is a complex disorder with suspected genetic components influencing risk and outcomes.
  • Previous studies have proposed candidate genes for IS, but replication has been limited.
  • A genetic predisposition to IS is suggested by twin, family, and animal studies.

Purpose of the Study:

  • To investigate the contribution of 67 candidate genes, specifically 369 single nucleotide polymorphisms (SNPs), to the risk of ischemic stroke.
  • To assess the genetic risk factors for ischemic stroke in a North American population of European descent.
  • To identify specific genetic variants associated with ischemic stroke susceptibility.

Main Methods:

  • Two independent studies were conducted, involving genotyping of SNPs in candidate genes.
  • The first study genotyped 342 SNPs in 307 IS cases and 324 controls, with replication in 583 IS cases and 270 controls.
  • The second study analyzed 212 SNPs in 62 candidate genes across 710 IS cases and 3751 controls.

Main Results:

  • No significant associations were found between the investigated single nucleotide polymorphisms (SNPs) in candidate genes and ischemic stroke risk.
  • After correction for multiple testing, none of the candidate genes showed a statistically significant association with IS risk, independent of known risk factors.
  • The study did not identify any specific SNPs that could reliably predict IS risk in the studied population.

Conclusions:

  • The findings align with previous meta-analyses indicating a lack of significant genetic association for IS risk with variants in plausible candidate genes.
  • The investigated single nucleotide polymorphisms (SNPs) may have a weak effect on ischemic stroke risk or be specific to certain populations or subtypes of IS.
  • Further research may be needed to explore potential genetic influences in more specific subgroups or using different genetic approaches.