TNFRSF1A coding variants in multiple sclerosis

• Published in: Journal of neuroimmunology 2011-06, Vol.235 (1), p.110-112
• Main Authors: Goris, An, Fockaert, Niels, Cosemans, Leentje, Clysters, Katleen, Nagels, Guy, Boonen, Steven, Thijs, Vincent, Robberecht, Wim, Dubois, Bénédicte
• Format: Article
• Language: English
• Subjects: Adult; Allergy and Immunology; Amino Acid Substitution - genetics; Association; Autoinflammation; Diagnosis, Differential; Familial Mediterranean Fever - diagnosis; Familial Mediterranean Fever - genetics; Genetic Variation - genetics; Humans; Male; Multiple sclerosis; Multiple Sclerosis - diagnosis; Multiple Sclerosis - genetics; Neurology; Open Reading Frames - genetics; Receptors, Tumor Necrosis Factor, Type I - genetics; Risk Factors; Susceptibility; Syndrome; Tumour Necrosis Factor; Young Adult
• ISSN: 0165-5728; 1872-8421
• DOI: 10.1016/j.jneuroim.2011.04.005

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.