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Related Concept Videos

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...
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...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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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Related Experiment Video

Updated: Jul 18, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

DRD2 C957T polymorphism interacts with the COMT Val158Met polymorphism in human working memory ability.

Haiyan Xu1, Christoph B Kellendonk, Eleanor H Simpson

  • 1Department of Genetics and Development, Columbia University, New York, NY 10032, USA.

Schizophrenia Research
|November 23, 2006
PubMed
Summary

Genetic variations in dopamine D2 receptor (DRD2) and COMT genes impact working memory. The DRD2 C/C allele showed the poorest performance, especially when interacting with COMT Val158Met, suggesting a combined role in cognitive function.

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Published on: July 18, 2017

Area of Science:

  • Neurogenetics
  • Cognitive Neuroscience
  • Psychiatric Genetics

Background:

  • Dopamine D2 receptor (DRD2) C957T and COMT Val158Met polymorphisms influence dopamine transmission.
  • Both DRD2 and COMT genes are implicated in working memory modulation.
  • These genetic variations have been previously associated with schizophrenia.

Purpose of the Study:

  • To investigate the relationship between DRD2 C957T and COMT Val158Met polymorphisms and working memory performance in healthy adults.
  • To examine potential gene-gene interactions between DRD2 and COMT on working memory.

Main Methods:

  • Genotyping of DRD2 C957T and COMT Val158Met polymorphisms in 188 healthy adult participants.
  • Assessment of working memory using a word serial position test.

Main Results:

  • Individuals with the DRD2 C/C allele exhibited significantly poorer working memory performance.
  • The association between DRD2 genotype and working memory was more pronounced when considering the interaction with COMT Val158Met polymorphism.

Conclusions:

  • A significant interaction between DRD2 C957T and COMT Val158Met polymorphisms may contribute to working memory deficits.
  • These findings suggest a potential genetic basis for working memory impairments observed in conditions like schizophrenia.