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

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

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

24
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...
24
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

40
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...
40
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

29
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...
29
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

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

30
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...
30
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

18.7K
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,...
18.7K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.8K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
18.8K

You might also read

Related Articles

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

Sort by
Same author

The opportunities and challenges of participatory systems mapping for physical activity promotion.

Perspectives in public health·2026
Same author

Global burden of cerebral small vessel disease determined from large MRI studies: A systematic review and meta-analysis.

International journal of stroke : official journal of the International Stroke Society·2026
Same author

Evaluation of perception towards brain health in Nigeria: Results from a nationwide awareness survey.

Journal of public health in Africa·2026
Same author

Hand grip strength and cognitive dysfunction amongst older Africans in Nigeria.

PloS one·2026
Same author

Subjective cognitive complaints and objective cognitive performance among a sample of Yoruba community-dwelling older persons from Southwest Nigeria: A cross-sectional study.

Journal of Alzheimer's disease : JAD·2026
Same author

LATERAL PONTINE STROKE SYNDROME PRESENTING AS A REPEAT STROKE: A CASE REPORT.

Annals of Ibadan postgraduate medicine·2025
Same journal

Editorial.

Acta neurologica Scandinavica·2022
Same journal

Advances in sudden unexpected death in epilepsy.

Acta neurologica Scandinavica·2022
Same journal

Non-convulsive seizures and non-convulsive status epilepticus in neuro-intensive care unit.

Acta neurologica Scandinavica·2022
Same journal

Positron emission tomography in autoimmune encephalitis: Clinical implications and future directions.

Acta neurologica Scandinavica·2022
Same journal

Seizure detection based on wearable devices: A review of device, mechanism, and algorithm.

Acta neurologica Scandinavica·2022
Same journal

Walking confidence and perceived locomotion ability explain participation after stroke: A cross-sectional experimental study.

Acta neurologica Scandinavica·2022
See all related articles

Related Experiment Video

Updated: Feb 21, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

12.3K

APOL1, CDKN2A/CDKN2B, and HDAC9 polymorphisms and small vessel ischemic stroke.

R Akinyemi1,2, H K Tiwari3, D K Arnett4

  • 1Center for Genomic and Precision Medicine, University of Ibadan, Ibadan, Nigeria.

Acta Neurologica Scandinavica
|October 5, 2017
PubMed
Summary
This summary is machine-generated.

This study links APOL1 gene variants to small vessel disease ischemic stroke in West Africans. These findings highlight the genetic factors contributing to stroke in this population.

Keywords:
APOL1African AncestryCDKN2A/CDKN2BHDAC9West Africacandidate genessmall vessel diseasestroke

More Related Videos

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

10.4K
Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes
11:33

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes

Published on: March 12, 2013

13.8K

Related Experiment Videos

Last Updated: Feb 21, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

12.3K
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

10.4K
Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes
11:33

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes

Published on: March 12, 2013

13.8K

Area of Science:

  • Genetics
  • Neurology
  • Epidemiology

Background:

  • Small vessel disease (SVD) ischemic stroke is prevalent in indigenous West Africans.
  • APOL1 gene variants are common in this population and linked to kidney disease.
  • Understanding stroke genetics in diverse ancestries is crucial for global health.

Purpose of the Study:

  • To investigate the association between specific genetic variants, including APOL1 G1, and SVD ischemic stroke.
  • To determine the effect sizes of these genetic associations in indigenous West African participants.
  • To contribute to the understanding of stroke genetics in African populations.

Main Methods:

  • Case-control study design using neuroimaging-confirmed stroke cases and stroke-free controls.
  • Logistic regression models adjusted for vascular risk factors were employed.
  • Analysis included 23 single nucleotide polymorphisms (SNPs) in 14 relevant genes.

Main Results:

  • APOL1 (rs73885319) showed a significant association with SVD stroke (OR=1.52, P=0.013).
  • SNPs in HDAC9 (rs2107595, rs28688791) and CDKN2A/CDKN2B (rs2383207) were also associated with SVD stroke.
  • No significant associations were found for polymorphisms in other investigated genes.

Conclusions:

  • This study provides the first evidence of a specific association between APOL1 variants and SVD ischemic stroke.
  • Further research is warranted to validate these findings and explore the genetic basis of stroke in African ancestries.
  • Understanding these genetic links may have broader implications for stroke research across diverse populations.