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Related Concept Videos

Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

138
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

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

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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

Pharmacogenetics of Drug Metabolism: Overview

194
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...
194
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

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

81
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

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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Drug Toxicity: Risk factors01:24

Drug Toxicity: Risk factors

229
Adverse Drug Reactions (ADRs) are potential complications that arise during pharmacotherapy, influenced by multiple risk factors. Age plays a significant role; both neonates and the elderly are at heightened risk due to their respective immature and diminished metabolic and elimination processes. Gender also impacts ADRs, with females experiencing a 1.5 to 1.7-fold greater risk than males, which may be linked to pharmacokinetic, pharmacodynamic, and hormonal differences. Notably, neonates, the...
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Proteome-Wide Mendelian Randomization Implicates Shared Necroptosis-Ferroptosis Effectors in Causal Pathways of Multiple Sclerosis Susceptibility.

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Updated: May 3, 2026

Determining Immune System Suppression versus CNS Protection for Pharmacological Interventions in Autoimmune Demyelination
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Integrating Genomic, eQTL, and Mendelian Randomization Analyses to Identify Microglial Drug Targets in Multiple

Wu Yan1, Jiang Wen1, Wang Jianhong1

  • 1Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, P. R. China.

Journal of Cellular and Molecular Medicine
|November 14, 2025
PubMed
Summary

This study identifies five key genes, including HLA-DRB1, linked to multiple sclerosis (MS) susceptibility. These findings highlight microglial genes as potential therapeutic targets for MS treatment.

Keywords:
Bayesian colocalizationcis‐eQTL analysismendelian randomization (MR)microgliamultiple sclerosis (MS)single‐cell sequencing

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Area of Science:

  • Neuroimmunology
  • Genetics
  • Pharmacogenomics

Background:

  • Multiple sclerosis (MS) is an autoimmune disorder involving neuroinflammation and neurodegeneration.
  • Microglial regulation is a critical factor in MS pathogenesis.
  • Understanding genetic and immunological factors is crucial for developing effective MS therapies.

Purpose of the Study:

  • To investigate genetic and immunological factors contributing to MS susceptibility.
  • To identify novel therapeutic targets by focusing on microglial gene regulation in MS.
  • To assess the causal effects of specific genes on MS risk using integrated genomic analyses.

Main Methods:

  • RNA sequencing of MS lesions and plaques to identify differentially expressed genes.
  • Mendelian randomization (MR), SMR, and co-localization analyses to determine causal relationships between genes and MS.
  • Protein-protein interaction (PPI) and DrugBank analyses to explore potential therapeutic interventions.

Main Results:

  • Five genes (ARHGAP25, HLA-DRB1, MERTK, MS4A6A, SYK) were identified as significantly associated with MS susceptibility.
  • MR analysis confirmed that elevated levels of these genes increase MS risk, with HLA-DRB1 showing the strongest association (OR=2.24).
  • Co-localization analysis revealed shared genetic variants between MS and HLA-DRB1 (100%) and SYK (97.93%).

Conclusions:

  • Integrated genomic analyses, including MR, are valuable for identifying novel MS therapeutic targets.
  • Microglial genes like HLA-DRB1 and SYK represent promising targets for future MS treatments.
  • This research offers potential new avenues for managing and treating multiple sclerosis.