TNFRSF1A coding variants in multiple sclerosis.
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.
Laboratory for Neuroimmunology, Section of Experimental Neurology, Katholieke Universiteit Leuven, Herestraat 49 Bus 1022, 3000 Leuven, Belgium. firstname.lastname@example.org, , , , , , ,
Amino Acid Substitution
Familial Mediterranean Fever
Open Reading Frames
Receptors, Tumor Necrosis Factor, Type I
Pub Type(s)Comparative Study
Research Support, Non-U.S. Gov't