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Related Concept Videos

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...
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...
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...
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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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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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Related Experiment Video

Updated: May 31, 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

Bioinformatic analyses to select phenotype affecting polymorphisms in HTR2C gene.

Francesco Piva1, Matteo Giulietti, Luisa Baldelli

  • 1Department of Biochemistry, Biology and Genetics, Polytechnic University of Marche, Ancona, Italy. f.piva@univpm.it

Human Psychopharmacology
|July 1, 2011
PubMed
Summary

Researchers identified 48 serotonin receptor 2C (HTR2C) single nucleotide polymorphisms (SNPs) with potential biological effects. These HTR2C SNPs can guide future psychiatric and pharmacogenomic association studies.

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

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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

Area of Science:

  • Genetics
  • Neuroscience
  • Pharmacogenomics

Background:

  • Single nucleotide polymorphisms (SNPs) in serotonin-related genes impact mental health and treatment responses.
  • Investigating novel SNPs requires efficient selection methods from numerous candidates.
  • The serotonin receptor 2C (HTR2C) gene has approximately 2000 SNPs, with few extensively studied.

Purpose of the Study:

  • To guide researchers in selecting the most promising phenotype-associated polymorphisms.
  • To identify functional single nucleotide polymorphisms (SNPs) within the serotonin receptor 2C (HTR2C) gene.

Main Methods:

  • Utilized state-of-the-art bioinformatics tools to analyze 2450 HTR2C SNPs.
  • Predicted which genetic variations are likely to exert biological effects.

Main Results:

  • Identified 48 HTR2C SNPs recommended for future psychiatric, psychological, and pharmacogenomic association studies.
  • Indicated potential biological impact levels, including effects on transcription, splicing, miRNA regulation, and protein structure.
  • Suggested avenues for future molecular investigations based on predicted SNP functions.

Conclusions:

  • The developed selection method effectively guides future association studies.
  • Existing literature, though limited, supports the predictive accuracy of the identified SNPs.
  • The findings aid in prioritizing HTR2C SNPs for research in mental health and pharmacogenomics.