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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...
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 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 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...
Drug toxicity: Idiosyncratic Reactions01:16

Drug toxicity: Idiosyncratic Reactions

Idiosyncratic drug reactions represent abnormal chemical responses that vary significantly among individuals, ranging from extreme sensitivity to low doses to insensitivity to high doses. These reactions often occur due to the drug's covalent binding with serum proteins, forming a foreign hapten that triggers an immunotoxicological response. The variability in drug reactions has a strong pharmacogenetic foundation, with genetic differences crucial in how individuals metabolize drugs. For...

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Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
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[Vitamin D receptor gene polymorphism].

Martin Pešta1

  • 1Centrální laborator pro imunoanalýzu Lékarské fakulty UK Plzen. Martin.Pesta@lfp.cuni.cz

Vnitrni Lekarstvi
|June 22, 2012
PubMed
Summary

Vitamin D receptor (VDR) gene polymorphisms influence its function, impacting bone density and cancer risk. Further research is needed to understand their full health effects and interactions with other genes.

Area of Science:

  • Genetics
  • Molecular Biology
  • Endocrinology

Context:

  • The nuclear vitamin D receptor (VDR) mediates most biological activities of 1,25-dihydroxyvitamin D.
  • VDR acts as a ligand-activated transcription factor.
  • VDR gene polymorphisms have been identified in multiple regions, including the 5-end (promoter) and 3-end.

Purpose:

  • To explore the functional impact of VDR gene polymorphisms.
  • To investigate the association of VDR polymorphisms with health outcomes like bone density and cancer.
  • To highlight the need for further research into the extent of health effects and the role of complex genetic interactions.

Summary:

  • Multiple polymorphisms exist within the VDR gene, located in both the promoter and 3-end regions.
  • Certain VDR polymorphisms demonstrably affect VDR function.

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  • These functional changes are linked to variations in bone mineral density (BMD) and an increased susceptibility to certain cancers.

    • Impact:

    • Understanding VDR gene polymorphisms is crucial for personalized medicine approaches.
    • Further investigation into VDR and co-occurring gene polymorphisms will elucidate complex disease mechanisms.
    • This research paves the way for targeted therapeutic strategies related to vitamin D signaling pathways.