Journal article
TNFRSF1A coding variants in multiple sclerosis
A Goris, N Fockaert, L Cosemans, K Clysters, G Nagels, S Boonen, V Thijs, W Robberecht, B Dubois
Journal of Neuroimmunology | Published : 2011
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. © 2011 Elsevier B.V.
Grants
Funding Acknowledgements
We are grateful to Dr. N. Libbrecht (AZ Sint-Lucas, Bruges) for referral of the patient who prompted us to investigate TRAPS mutations in MS patients and to Dr. Jasmine Parma (Universite Libre de Bruxelles) for sequencing of this patient and providing primer sequences. BD, SB and VT are Clinical Investigators of the Research Foundation Flanders (FWO-Vlaanderen). BD holds the Bayer Chair on Fundamental Genetic Research regarding the Neuroimmunological Aspects of Multiple Sclerosis and the Biogen Idec Chair Translational Research in Multiple Sclerosis. We acknowledge support from TEVA PHARMA NEDERLAND B.V. and from Wetenschappelijk Onderzoek Multiple Sclerose (WOMS)-Vlaanderen.