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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.
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Comparing Copy Number Variations and SNPs

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.
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Related Experiment Videos

Genomic NGFB variation and multiple sclerosis in a case control study.

Denis A Akkad1, Niels Kruse, Larissa Arning

  • 1Department of Human Genetics, Ruhr-University, 44780 Bochum, Germany. Amer.Akkad@rub.de

BMC Medical Genetics
|December 10, 2008
PubMed
Summary

Genetic variations in Nerve Growth Factor Beta (NGFB) are linked to multiple sclerosis (MS) development. NGFB gene expression also appears to influence MS progression and sex differences in patients.

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Area of Science:

  • Neuroimmunology
  • Genetics of Neurological Disorders

Background:

  • Nerve growth factor beta (NGFB) plays roles in cell survival and immune responses.
  • Its precursor, ProNGF, can induce cell death and is differentially expressed between sexes.
  • NGFB is a potential factor influencing multiple sclerosis (MS) pathogenesis.

Purpose of the Study:

  • To investigate the association between NGFB gene variations and MS.
  • To explore the functional relevance of identified single nucleotide polymorphisms (SNPs).
  • To examine NGFB expression patterns in relation to MS and patient demographics.

Main Methods:

  • Genotyping of ten single nucleotide polymorphisms (SNPs) in the NGFB gene.
  • Case-control study involving 1120 MS patients and 869 controls.
  • Expression analysis of NGFB mRNA in peripheral blood mononuclear cells from MS patients.

Main Results:

  • Two specific NGFB SNPs showed a significant association with MS.
  • NGFB mRNA expression demonstrated a correlation with sex and disease progression.
  • Evidence suggests a link between NGFB genetic variations and MS susceptibility.

Conclusions:

  • NGFB genetic variations are associated with multiple sclerosis.
  • NGFB expression levels may modulate MS development and progression.
  • NGFB warrants further investigation as a factor in MS pathogenesis.