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Updated: Jun 19, 2026

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
09:41

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

Multiple sclerosis. TNFRSF1A, TRAPS and multiple sclerosis.

Tania Kümpfel1, Reinhard Hohlfeld

  • 1Institute of Clinical Neuroimmunology-Campus Grosshadern, Ludwig Maximilians University of Munich, Marchioninistrasse 15, Munich, Germany. tania.kuempfel@med.uni-muenchen.de

Nature Reviews. Neurology
|October 2, 2009
PubMed
Summary
This summary is machine-generated.

A new gene variant, R92Q in TNFRSF1A, is linked to multiple sclerosis (MS) susceptibility. This finding is significant as the variant was previously observed in MS patients with symptoms of the autoinflammatory syndrome TRAPS.

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Area of Science:

  • Genetics
  • Immunology
  • Neurology

Background:

  • Multiple sclerosis (MS) is a chronic autoimmune disease affecting the central nervous system.
  • The genetic underpinnings of MS susceptibility are complex and incompletely understood.
  • The Tumor Necrosis Factor Receptor Superfamily Member 1A (TNFRSF1A) gene plays a role in immune regulation.

Purpose of the Study:

  • To identify novel genetic loci associated with multiple sclerosis risk.
  • To investigate the role of the TNFRSF1A gene in MS pathogenesis.
  • To explore potential links between MS and autoinflammatory conditions.

Main Methods:

  • Genome-wide association study (GWAS) was employed to screen for genetic variants.
  • Analysis focused on identifying susceptibility loci for multiple sclerosis.
  • Case-control association analysis was performed for the identified variant.

Main Results:

  • A genome-wide significant association was found for the R92Q variant in the TNFRSF1A gene.
  • This R92Q variant represents a new susceptibility locus for multiple sclerosis.
  • The R92Q substitution was previously noted in MS patients with autoinflammatory syndrome (TRAPS) symptoms.

Conclusions:

  • The R92Q variant of TNFRSF1A is a novel genetic risk factor for multiple sclerosis.
  • This finding suggests a potential shared genetic or biological pathway between MS and TRAPS.
  • Further research is warranted to elucidate the functional impact of this variant in MS.