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Related Concept Videos

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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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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Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

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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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Pharmacogenetics and Pharmacogenomics: Overview01:29

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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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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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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: May 4, 2026

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
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Caveat emptor: single nucleotide polymorphism reporting in pharmacogenomics.

Izel Tekin1, Kent E Vrana

  • 1Department of Pharmacology, Penn State College of Medicine, Pennsylvania State University, Hershey, Pa., USA.

Pharmacology
|December 21, 2013
PubMed
Summary

The National Center for Biotechnology Information

Area of Science:

  • Genetics and Bioinformatics
  • Pharmacogenomics

Background:

  • The National Center for Biotechnology Information's (NCBI) database of single nucleotide polymorphisms (dbSNP) is a vital resource for genetic information.
  • However, the dbSNP database contains imperfections that necessitate careful consideration by users.

Purpose of the Study:

  • To highlight issues and limitations within the NCBI's dbSNP database.
  • To emphasize the importance of dbSNP for pharmacology and pharmacogenomics research.
  • To provide a cautionary perspective based on user experience and suggest improvements.

Main Methods:

  • Commentary and critical analysis of the dbSNP database.
  • Review of user experiences with dbSNP data.
  • Discussion of potential measures to enhance database reliability.

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Main Results:

  • The dbSNP database, despite its comprehensiveness, presents reliability challenges.
  • User experiences underscore the need for critical data evaluation.
  • Specific measures can be implemented to improve the accuracy and trustworthiness of the database.

Conclusions:

  • The NCBI dbSNP database is an indispensable tool for pharmacogenomics and pharmacology.
  • Users must approach the data with caution, recognizing its potential imperfections.
  • Implementing specific strategies can significantly enhance the reliability and utility of dbSNP.