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TNFRSF1A coding variants in multiple sclerosis

An Goris1, Niels Fockaert, Leentje Cosemans

  • 1Laboratory for Neuroimmunology, Section of Experimental Neurology, Katholieke Universiteit Leuven, Herestraat 49 Bus 1022, 3000 Leuven, Belgium. an.goris@med.kuleuven.be

Journal of Neuroimmunology
|May 14, 2011
PubMed

Insights

The R92Q mutation in the TNFRSF1A gene, linked to Tumour Necrosis Factor receptor-associated periodic syndrome (TRAPS), is a risk factor for multiple sclerosis (MS). This finding was replicated in a study of MS patients and controls.

Area of Science:

  • Genetics
  • Neuroimmunology
  • Autoinflammatory Diseases

Background:

  • Tumour Necrosis Factor receptor-associated periodic syndrome (TRAPS) is an autoinflammatory disease.
  • Some TRAPS patients exhibit demyelinating diseases.
  • The TNFRSF1A R92Q mutation, a mild TRAPS variant, is hypothesized to increase multiple sclerosis (MS) risk.

Purpose of the Study:

  • To investigate the association between the TNFRSF1A R92Q mutation and multiple sclerosis (MS) risk.
  • To determine if this association is independent of other known risk variants in the TNFRSF1A gene.

Main Methods:

  • Case-control study design.
  • Genotyping of 967 MS patients and 1022 controls for the TNFRSF1A R92Q mutation.
  • Statistical analysis including odds ratio (OR) and confidence intervals (CI).

Main Results:

  • Replication of the association between the TNFRSF1A R92Q mutation and MS risk (P=5×10⁻⁴, OR=2.26).
  • The mutation was present in 3% of MS patients versus 1% of controls.
  • The observed association was independent of a previously established common risk variant in the same gene.
  • No other non-synonymous variants in TNFRSF1A within the studied allele frequency range influenced MS risk.

Conclusions:

  • The TNFRSF1A R92Q mutation is a risk factor for developing multiple sclerosis.
  • This genetic risk appears independent of other known common variants in the TNFRSF1A gene.
  • Further research into the role of TNFRSF1A variants in MS pathogenesis is warranted.

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