TNFRSF1A coding variants in multiple sclerosis

J Neuroimmunol. 2011 Jun;235(1-2):110-2. doi: 10.1016/j.jneuroim.2011.04.005. Epub 2011 May 11.

Abstract

Patients with the autoinflammatory disease Tumour Necrosis Factor receptor-associated periodic syndrome (TRAPS) who suffer from demyelinating disease have been described, and one of the milder TRAPS mutations (R92Q in the TNFRSF1A gene) has been suggested as a risk factor for multiple sclerosis (MS). In a study population of 967 MS patients and 1022 controls, we replicate association [P=5×10⁻⁴, 3% in patients versus 1% in controls, OR=2.26 (95% CI 1.41-3.61)], which appears independent of an established common risk variant in the same gene. No other non-synonymous variants in the same allele frequency range influencing risk of MS were observed.

Publication types

  • Comparative Study
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Substitution / genetics
  • Diagnosis, Differential
  • Familial Mediterranean Fever / diagnosis
  • Familial Mediterranean Fever / genetics
  • Genetic Variation / genetics*
  • Humans
  • Male
  • Multiple Sclerosis / diagnosis
  • Multiple Sclerosis / genetics*
  • Open Reading Frames / genetics*
  • Receptors, Tumor Necrosis Factor, Type I / genetics*
  • Risk Factors
  • Syndrome
  • Young Adult

Substances

  • Receptors, Tumor Necrosis Factor, Type I
  • TNFRSF1A protein, human