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

Genome-wide Association Studies-GWAS01:11

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...
Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

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...
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,...

You might also read

Related Articles

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

Sort by
Same author

Is achieving higher standards in real-world migraine care feasible with anti-CGRP monoclonal antibodies preventive therapies?: Insights from the EUREkA cohort.

Cephalalgia : an international journal of headache·2026
Same author

Long-Term Effectiveness and Persistence Factors of Anti-CGRP Monoclonal Antibodies in Migraine: 2-Year Results From the EUREkA Cohort.

Neurology·2026
Same author

Reduced Childhood Outdoor Exposure Raises Pediatric Multiple Sclerosis (PedMS) Risk.

Neurology and therapy·2026
Same author

Correction: Ozone pollution as a possible trigger for multiple sclerosis in young people: the PEDIGREE study.

Journal of neurology·2026
Same author

Pediatric Radiologically Isolated Syndrome (RIS): A Case with Active Disease 18 Years Later.

Neurology and therapy·2026
Same author

Impact of gastric ischemic preconditioning before esophagectomy on pathologic response.

Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract·2026

Related Experiment Video

Updated: May 23, 2026

Measuring Progressive Neurological Disability in a Mouse Model of Multiple Sclerosis
08:11

Measuring Progressive Neurological Disability in a Mouse Model of Multiple Sclerosis

Published on: November 14, 2016

A genome-wide association study in progressive multiple sclerosis.

Filippo Martinelli-Boneschi1, Federica Esposito, Paola Brambilla

  • 1Institute of Experimental Neurology and Department of Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 58, Milan, Italy. martinelli.filippo@hsr.it

Multiple Sclerosis (Houndmills, Basingstoke, England)
|March 30, 2012
PubMed
Summary

Genetic factors influencing multiple sclerosis (MS) progression are being uncovered. A genome-wide study identified a novel genetic locus on chromosome 7 associated with progressive MS (PrMS).

Related Experiment Videos

Last Updated: May 23, 2026

Measuring Progressive Neurological Disability in a Mouse Model of Multiple Sclerosis
08:11

Measuring Progressive Neurological Disability in a Mouse Model of Multiple Sclerosis

Published on: November 14, 2016

Area of Science:

  • Genetics
  • Neurology
  • Immunology

Background:

  • The genetic underpinnings of multiple sclerosis (MS) progression remain incompletely understood.
  • Identifying genetic variants associated with disease course is crucial for understanding MS pathogenesis.

Purpose of the Study:

  • To identify genetic variants linked to the progressive form of multiple sclerosis (PrMS).

Main Methods:

  • A genome-wide association study (GWAS) was performed on 197 Italian PrMS patients and 234 controls.
  • Top single nucleotide polymorphisms (SNPs) were validated in independent cohorts.

Main Results:

  • A genome-wide significant risk-associated SNP (rs3129934) was identified in the HLA region, in linkage disequilibrium with known MS risk loci.
  • A novel locus on chromosome 7q35 (rs996343), within a human endogenous retroviral element, showed suggestive association with PrMS.
  • Pathway analysis indicated potential regulatory roles for the chromosome 7 locus in neurodegeneration, glutamate metabolism, and axonal guidance signaling.

Conclusions:

  • The study confirms the association of the HLA region with MS progression.
  • Suggestive evidence for a novel genetic locus on chromosome 7, potentially involved in regulating neurodegenerative pathways, was found.
  • Further research is warranted to elucidate the role of this novel locus in MS pathogenesis.