Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

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...
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...
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...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Prevalence of non-HLA antibodies and their association with FIB-4 index-based fibrosis risk in pediatric liver transplant recipients with long-term graft survival (>10 years).

Frontiers in immunology·2026
Same author

Exploring Dystrophin Expression and Mutations in the <i>DMD</i> and Dystrophin-Glycoprotein Complex Genes as Prognostic Factors in Leiomyosarcomas.

International journal of molecular sciences·2026
Same author

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Combined periodontitis GWAS identifies LINC01541 as a regulator of innate immunity in the oral mucosa.

Human molecular genetics·2026
Same author

DDX3X Syndrome: Clinical, Neuroimaging, AI-Assisted Facial Profiling and Genotype-Phenotype Correlations.

Genes·2026
Same author

Antioxidants as Therapeutic Tools in the Management of COPD: A Systematic Review with Meta-Analysis.

Antioxidants (Basel, Switzerland)·2026

Related Experiment Video

Updated: Jun 8, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in

Alexandre Serra-Llovich1, Natalia Cullell1,2, Olalla Maroñas3,4,5

  • 1Fundació Docència i Recerca Mutua Terrassa, 08221 Terrassa, Spain.

Biomedicines
|March 28, 2025
PubMed
Summary
This summary is machine-generated.

Host genetic factors influence COVID-19 treatment response. This study identified 16 genes impacting outcomes for immunomodulator and corticoid therapies, paving the way for precision medicine in future epidemics.

Keywords:
SARS-CoV-2corticoidsimmunomodulatorspharmacogeneticsprecision medicine

More Related Videos

Live Imaging and Quantification of Viral Infection in K18 hACE2 Transgenic Mice Using Reporter-Expressing Recombinant SARS-CoV-2
08:41

Live Imaging and Quantification of Viral Infection in K18 hACE2 Transgenic Mice Using Reporter-Expressing Recombinant SARS-CoV-2

Published on: November 5, 2021

Development of Multiplex Real-Time RT-qPCR Assays for the Detection of SARS-CoV-2, Influenza A/B, and MERS-CoV
03:53

Development of Multiplex Real-Time RT-qPCR Assays for the Detection of SARS-CoV-2, Influenza A/B, and MERS-CoV

Published on: November 10, 2023

Related Experiment Videos

Last Updated: Jun 8, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

Live Imaging and Quantification of Viral Infection in K18 hACE2 Transgenic Mice Using Reporter-Expressing Recombinant SARS-CoV-2
08:41

Live Imaging and Quantification of Viral Infection in K18 hACE2 Transgenic Mice Using Reporter-Expressing Recombinant SARS-CoV-2

Published on: November 5, 2021

Development of Multiplex Real-Time RT-qPCR Assays for the Detection of SARS-CoV-2, Influenza A/B, and MERS-CoV
03:53

Development of Multiplex Real-Time RT-qPCR Assays for the Detection of SARS-CoV-2, Influenza A/B, and MERS-CoV

Published on: November 10, 2023

Area of Science:

  • Genetics and Genomics
  • Infectious Diseases
  • Pharmacology

Background:

  • The COVID-19 pandemic caused significant global mortality, highlighting the need for effective treatments.
  • Current COVID-19 therapies are repurposed, and genetic factors influencing treatment response are understudied.
  • Understanding host genetics is crucial for predicting susceptibility and treatment outcomes in infectious diseases.

Purpose of the Study:

  • To identify host genetic biomarkers predicting clinical outcomes of COVID-19 pharmacological treatments.
  • To investigate the correlation between genetic variants and patient response to immunomodulators and corticoids.

Main Methods:

  • Genome-Wide Association Studies (GWAS) and candidate gene analyses were performed on COVID-19 patients from the SCOURGE cohort.
  • Patients received immunomodulators (n=849), corticoids (n=2202), or both (n=2487).
  • Treatment response was assessed using phenotypes like 90-day survival, ICU admission, radiological findings, and ventilation type.

Main Results:

  • Significant polymorphisms in 16 genes (e.g., TLR1, TLR6, TLR10, CYP2C19, ACE2) were associated with treatment response.
  • Enrichment analyses identified pathways related to innate immunity, drug ADME, viral infection, and programmed cell death.
  • These genetic variants may modulate responses to corticoid and immunomodulator therapies in COVID-19 patients.

Conclusions:

  • This study establishes a framework for understanding the genetic basis of COVID-19 treatment response.
  • Identified genetic biomarkers offer potential for personalized medicine approaches in managing COVID-19 and future epidemics.
  • Insights into genetic determinants can optimize therapeutic strategies for infectious diseases.