Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

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

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...

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

Principles of Pharmacogenetics: Types of Genetic Variants

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: Overview

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...

Pharmacogenomics: Identification of New Drug Targets

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...

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

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...

You might also read

Related Articles

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

Sort by

Same author

The NDT and MARKUS@HOMe Partnership.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association·2026

Same author

[Chronic Kidney Disease - when should general practitioner consult nephrology?]

MMW Fortschritte der Medizin·2026

Same author

Glomerular Filtration Rate, Albuminuria, and Reported Kidney Disease in Comparison: Results From the German National Cohort (NAKO).

Deutsches Arzteblatt international·2026

Same author

Very low-grade albuminuria is linked to arterial stiffness in a population-based cohort.

American journal of preventive cardiology·2026

Same author

Occupational risk factors for depression and anxiety symptoms: Insights from a large cohort study during and after the SARS-CoV-2 pandemic.

PloS one·2026

Same author

[Prevention and screening in nephrology].

Innere Medizin (Heidelberg, Germany)·2026

Search research articles

Related Experiment Video

Updated: Jul 17, 2026

A Murine Model of Hemodialysis Access-Related Hand Dysfunction

A Murine Model of Hemodialysis Access-Related Hand Dysfunction

Published on: May 31, 2022

Gene polymorphism association studies in dialysis: vascular access.

Matthias Girndt¹, Gunnar H Heine, Christof Ulrich

¹Medical Department IV, University of the Saarland, Homburg/Saar, Germany. inmgir@uniklinik-saarland.de

Seminars in Dialysis

|January 25, 2007

Summary

Genetic factors influence hemodialysis vascular access complications. Specific gene mutations, like Factor V Leiden and prothrombin 20210, increase thrombosis risk, impacting patient health and dialysis effectiveness.

More Related Videos

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

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

Published on: April 1, 2019

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Related Experiment Videos

Last Updated: Jul 17, 2026

A Murine Model of Hemodialysis Access-Related Hand Dysfunction

A Murine Model of Hemodialysis Access-Related Hand Dysfunction

Published on: May 31, 2022

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

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

Published on: April 1, 2019

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Published on: August 21, 2016

Area of Science:

Nephrology
Vascular Surgery
Genetics

Background:

Vascular access complications are a significant cause of morbidity and hospitalization in hemodialysis patients.
Central venous catheters, arteriovenous fistulas, and grafts are prone to infections and thrombosis.
Vascular access dysfunction often results from venous wall proliferation and thrombosis.

Purpose of the Study:

To investigate the role of genetic polymorphisms in vascular access complications for hemodialysis.
To identify specific genetic factors associated with thrombosis and failure of different vascular access types.

Main Methods:

Review of existing literature on genetic polymorphisms and vascular access outcomes.
Analysis of associations between specific gene mutations (e.g., Factor V Leiden, prothrombin 20210, MTHFR) and complications.
Examination of the impact of endothelial and inflammatory factors on vascular access prognosis.

Main Results:

Factor V Leiden and prothrombin 20210 polymorphisms are linked to increased risk of central venous catheter and fistula thrombosis.
Methylene tetrahydrofolate reductase (MTHFR) gene polymorphism is associated with fistula failure.
Transforming growth factor-beta1 polymorphisms correlate with native arteriovenous fistula prognosis, while ACE polymorphism shows no association.

Conclusions:

Genetic variations in coagulation factors and endothelial mediators play a role in hemodialysis vascular access failure.
Identifying these genetic predispositions can potentially improve patient outcomes and reduce access-related complications.
Further research is needed to clarify the role of cytokine gene polymorphisms in vascular access prognosis.