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Related Concept Videos

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...
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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...
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,...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Autoimmune Disorders

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Concept and Mechanism of Autoimmune Diseases
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Quantification of Autoreactive Antibodies in Mice upon Experimental Autoimmune Encephalomyelitis
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Genes associated with multiple sclerosis: 15 and counting.

Mario Habek1, Vesna V Brinar, Fran Borovečki

  • 1School of Medicine, University of Zagreb, Croatia.

Expert Review of Molecular Diagnostics
|October 23, 2010
PubMed
Summary
This summary is machine-generated.

International Multiple Sclerosis Genetics Consortium identified three new multiple sclerosis (MS) susceptibility loci: RGS1, IL12A, and MPHOSPH9/CDK2AP1. These findings advance understanding of MS genetic risk factors.

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09:41

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Published on: July 19, 2019

Area of Science:

  • Immunogenetics
  • Neuroimmunology
  • Human Genetics

Background:

  • Multiple sclerosis (MS) is a complex autoimmune disease influenced by genetic and environmental factors.
  • Genome-wide association studies (GWAS) have accelerated the identification of MS susceptibility genes.
  • The International Multiple Sclerosis Genetics Consortium (IMSGC) has been instrumental in large-scale genetic studies of MS.

Discussion:

  • This review focuses on three novel MS susceptibility loci identified by the IMSGC: RGS1, IL12A, and MPHOSPH9/CDK2AP1.
  • These loci were identified through genome-wide association studies, providing statistically significant evidence for their role in MS.
  • The article discusses the implications of these discoveries for understanding MS pathogenesis and potential clinical applications.

Key Insights:

  • Discovery of RGS1, IL12A, and MPHOSPH9/CDK2AP1 as novel genetic loci associated with multiple sclerosis risk.
  • Confirmation of the utility of GWAS in identifying new MS susceptibility genes beyond the established HLA-DRB1 locus.
  • These findings contribute to a growing list of genetic factors influencing MS, although individual loci have modest effects on overall risk.

Outlook:

  • Further research into the functional roles of RGS1, IL12A, and MPHOSPH9/CDK2AP1 in immune responses and MS pathogenesis.
  • Integration of these genetic findings with environmental factors to develop a more comprehensive model of MS etiology.
  • Potential for GWAS-derived genetic information to inform future diagnostic or therapeutic strategies for multiple sclerosis.