title: TNFRSF1A coding variants in multiple sclerosis.
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.
authors.affiliation: Laboratory for Neuroimmunology, Section of Experimental Neurology, Katholieke Universiteit Leuven, Herestraat 49 Bus 1022, 3000 Leuven, Belgium. an.goris@med.kuleuven.be
authors.forename: An
authors.initials: A
authors.lastname: Goris
authors.forename: Niels
authors.initials: N
authors.lastname: Fockaert
authors.forename: Leentje
authors.initials: L
authors.lastname: Cosemans
authors.forename: Katleen
authors.initials: K
authors.lastname: Clysters
authors.forename: Guy
authors.initials: G
authors.lastname: Nagels
authors.forename: Steven
authors.initials: S
authors.lastname: Boonen
authors.forename: Vincent
authors.initials: V
authors.lastname: Thijs
authors.forename: Wim
authors.initials: W
authors.lastname: Robberecht
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Dubois
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D003937:Diagnosis, Differential; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D009103:Multiple Sclerosis / Q000175:diagnosis / Q000235:genetics*; D016366:Open Reading Frames / Q000235:genetics*; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*; D012307:Risk Factors; D013577:Syndrome; D055815:Young Adult
chemical_list: D047888:Receptors, Tumor Necrosis Factor, Type I; C506235:TNFRSF1A protein, human