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

19.7K
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,...
19.7K
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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

102
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...
102
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

19.2K
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%...
19.2K
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

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

65
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...
65
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes01:28

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

108
Cytochrome P450 (CYP450) enzymes are a superfamily of heme-containing monooxygenases that play a pivotal role in Phase I drug metabolism by catalyzing oxidation and reduction reactions.These enzymes transform lipophilic xenobiotics into more hydrophilic metabolites, facilitating subsequent Phase II conjugation and eventual excretion. The CYP450 family is classified into families (e.g., CYP1–CYP3) and subfamilies (e.g., CYP2A, CYP2C), based on amino acid sequence homology.CYP450...
108
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

86
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...
86

You might also read

Related Articles

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

Sort by
Same author

Hydrochemical and Isotopic Insights Into Source, Controlling Processes, and Quality of River Water and Groundwater in an Arid Agricultural Area, Qaidam Basin, Northwest China.

Water environment research : a research publication of the Water Environment Federation·2026
Same author

Characterizing surface soil heavy metal contamination and source attribution in the Qinghai Lake Basin.

Scientific reports·2026
Same author

A new risk for the recovered Tibetan antelope (Pantholops hodgsonii): Co-exposure of microplastics with organophosphates in their habitats.

Journal of hazardous materials·2025
Same author

Octahedral alloyed PtCu-BTC for photothermal synergistic enhanced photo-Fenton degradation of organic dye contaminant.

Environmental research·2025
Same author

Dual-mode imaging flow cytometer for simultaneous scattering and fluorescence imaging of phytoplankton.

Optics express·2025
Same author

Retraction Note: Human fetal cerebellar cell atlas informs medulloblastoma origin and oncogenesis.

Nature·2025

Related Experiment Video

Updated: Mar 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

The Association Between Genetic Polymorphism rs703842 in CYP27B1 and Multiple Sclerosis: A Meta-Analysis.

Tao Jiang1, Lizhuo Li, Ying Wang

  • 1From the Department of Neurology (TJ, JY), Laizhou People's Hospital, Laizhou, Shandong; Department of Critical Care and Emergency Medicine (LL), The Affiliated Hospital of Hainan Medical University, Haikou, Hainan; Emergency Department (LL), Shengjing Hospital of China Medical University, Shenyang, Liaoning; Department of Neurosurgery (YW, DM), Huashan Hospital, Fudan University, Shanghai, China; Brain Tumor Center (CZ), Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Neurosurgery (YG, DZ, YB, YW), The First Hospital of China Medical University, Shenyang, Liaoning; Rush Alzheimer's Disease Center (JY); and Department of Neurological Sciences (JY), Rush University Medical Center, Chicago, IL, USA.

Medicine
|May 14, 2016
PubMed
Summary

The genetic variant rs703842 in CYP27B1 is associated with reduced risk of multiple sclerosis (MS). This finding suggests a potential protective role for the C allele in MS susceptibility among Caucasians.

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

10.5K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.8K

Related Experiment Videos

Last Updated: Mar 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

10.5K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.8K

Area of Science:

  • Genetics
  • Neurology
  • Epidemiology

Background:

  • Multiple sclerosis (MS) is a leading cause of neurological disability in young adults.
  • Previous research on the association between the CYP27B1 gene variant rs703842 and MS susceptibility has yielded inconsistent results.

Purpose of the Study:

  • To systematically review and meta-analyze existing studies to clarify the relationship between rs703842 and MS risk.
  • To determine if the rs703842 variant influences susceptibility to multiple sclerosis.

Main Methods:

  • A comprehensive literature search was conducted across multiple databases (PubMed, Embase, Web of Science, etc.).
  • Eligible studies were case-control designs providing genotype data for rs703842.
  • Random-effects models were employed for meta-analysis, with heterogeneity and publication bias assessed.

Main Results:

  • Seven studies published since 2008 met the inclusion criteria.
  • The C allele of rs703842 was significantly associated with a reduced risk of MS (OR = 0.88, P < 0.0001).
  • This association remained significant under dominant and recessive models and was consistent in analyses limited to Caucasian participants.

Conclusions:

  • The genetic variant rs703842 in CYP27B1 is associated with decreased MS risk in Caucasian populations.
  • Limitations include small sample size, inability to control for confounding factors, and a focus on Caucasian ethnicity.
  • Further research with larger sample sizes and diverse ethnic groups is warranted to validate these findings.