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

Multiple Allele Traits01:49

Multiple Allele Traits

32.7K
The Concept of Multiple Allelism
32.7K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

11.6K
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%...
11.6K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

14.6K
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,...
14.6K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

12.6K
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...
12.6K
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

121
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...
121
Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

20
Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
20

You might also read

Related Articles

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

Sort by
Same author

Anti-CD320 Autoantibodies and Central Nervous System Vitamin B12 Deficiency in Idiopathic Myelopathy.

medRxiv : the preprint server for health sciences·2026
Same author

Update on novel multiple sclerosis treatments: from dismal defeat to scintillating success.

Current opinion in neurology·2025
Same author

Author Correction: Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection.

Scientific reports·2023
Same author

Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection.

Scientific reports·2023
Same author

Willis and the cortical neuron.

The Lancet. Neurology·2021
Same author

Reply: The etymology of 'neurology', redux: early use of the term by Jean Riolan the Younger (1610).

Brain : a journal of neurology·2021

Related Experiment Video

Updated: May 5, 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

12.4K

Risk alleles for multiple sclerosis identified by a genomewide study.

1, David A Hafler, Alastair Compston

  • 1Division of Molecular Immunology, Center for Neurologic Diseases, Department of Neurology, Brigham and Women's Hospital, and Harvard Medical School, Boston, USA.

The New England Journal of Medicine
|July 31, 2007
PubMed
Summary

This study identified genetic risk factors for multiple sclerosis. Key genes like IL2RA and IL7RA, along with the HLA locus, are associated with the heritable component of this neurological disease.

More Related Videos

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

9.2K
Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

20.2K

Related Experiment Videos

Last Updated: May 5, 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

12.4K
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

9.2K
Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

20.2K

Area of Science:

  • Genetics
  • Neurology
  • Immunology

Background:

  • Multiple sclerosis (MS) has a significant genetic influence.
  • Identifying specific genetic alleles associated with MS risk is crucial for understanding its etiology.

Purpose of the Study:

  • To conduct a genomewide association study (GWAS) to identify genetic variants linked to multiple sclerosis risk.
  • To validate identified genetic associations through replication studies.

Main Methods:

  • Utilized DNA microarray technology for genomewide genotyping in 931 family trios.
  • Performed association testing using transmission disequilibrium tests.
  • Conducted replication analysis in an additional 609 family trios, 2322 cases, and 789 controls, plus external datasets.

Main Results:

  • Identified 110 single-nucleotide polymorphisms (SNPs) associated with MS risk.
  • Strong associations found for SNPs within the interleukin-2 receptor alpha gene (IL2RA) (P=2.96x10(-8)).
  • Significant associations also observed for IL7RA (P=2.94x10(-7)) and the HLA-DRA locus (P=8.94x10(-81)).

Conclusions:

  • Alleles of IL2RA and IL7RA are confirmed as heritable risk factors for multiple sclerosis.
  • Genetic variants within the HLA locus significantly contribute to MS heritability.
  • These findings advance the understanding of the genetic basis of multiple sclerosis.