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  • Title: TNFRSF1A coding variants in multiple sclerosis.
    Author: Goris A, Fockaert N, Cosemans L, Clysters K, Nagels G, Boonen S, Thijs V, Robberecht W, Dubois B.
    Journal: J Neuroimmunol; 2011 Jun; 235(1-2):110-2. PubMed ID: 21565411.
    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.
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