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Related Concept Videos

Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

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Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
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Principles of Pharmacogenetics: Types of Genetic Variants01:27

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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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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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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...
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Pharmacogenetics of Drug Metabolism: Overview01:27

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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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Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

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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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Pharmacogenomics: Identification of New Drug Targets01:29

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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...
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Pharmacogene regulatory elements: from discovery to applications.

Robin P Smith1, Ernest T Lam, Svetlana Markova

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Genetic variants in regulatory elements like promoters, enhancers, and microRNAs significantly impact drug response. Next-generation sequencing (NGS) technologies are advancing our understanding of these variations for personalized medicine.

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Area of Science:

  • Genomics
  • Pharmacogenomics
  • Molecular Biology

Background:

  • Individual responses to drug treatments vary due to genetic factors influencing gene and protein regulation.
  • Promoters, enhancers, and microRNAs are key regulatory elements affecting RNA and protein abundance.
  • Next-generation sequencing (NGS) technologies are rapidly characterizing genetic variants within these regulatory elements.

Purpose of the Study:

  • To review how promoters, enhancers, and microRNAs influence drug response by regulating drug targets, transporters, and enzymes.
  • To discuss the impact of various NGS technologies, including ChIP-Seq, RNA-Seq, Hi-C, ChIA-PET, and MPRA.
  • To highlight the need for advanced analytical methods to interpret the vast amount of data generated by NGS for clinical application.

Main Methods:

  • Review of existing literature on regulatory elements and drug response.
  • Discussion of various NGS techniques and their applications in pharmacogenomics.
  • Analysis of how genetic variants in regulatory elements affect drug metabolism and efficacy.

Main Results:

  • Regulatory elements and their variants demonstrably affect drug response through modulation of drug targets, transporters, and enzymes.
  • NGS technologies like ChIP-Seq and RNA-Seq are crucial for characterizing these regulatory variants.
  • Emerging techniques such as Hi-C, ChIA-PET, and MPRA offer deeper insights into gene regulation.

Conclusions:

  • NGS technologies are accelerating the discovery of genetic variants influencing drug response, paving the way for personalized medicine.
  • Advanced computational methods are essential to analyze and prioritize NGS data for clinical translation.
  • Understanding regulatory variants in pharmacogenomics is key to identifying patient responses, preventing adverse drug reactions, and optimizing therapies.