TNFRSF1A coding variants in multiple sclerosis.

An Goris, Niels Fockaert, Leentje Cosemans, Katleen Clysters, Guy Nagels, Steven Boonen, Vincent Thijs, Wim Robberecht, Bénédicte Dubois

Journal: Journal of neuroimmunology 2011;235(1-2):110-2

PMID: 21565411

Full Text on Elsevier Science View on PubMed

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.

Address: Laboratory for Neuroimmunology, Section of Experimental Neurology, Katholieke Universiteit Leuven, Herestraat 49 Bus 1022, 3000 Leuven, Belgium. [email protected]

DOI: 10.1016/j.jneuroim.2011.04.005

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MeSH Terms: Adult, Amino Acid Substitution, Diagnosis, Differential, Familial Mediterranean Fever, Genetic Variation, Humans, Male, Multiple Sclerosis, Open Reading Frames, Receptors, Tumor Necrosis Factor, Type I, Risk Factors, Syndrome, Young Adult