Article
Brief report: candidate gene study in systemic sclerosis identifies a rare and functional variant of the TNFAIP3 locus as a risk factor for polyautoimmunity.
Arthritis and rheumatism - 1 Aug 2012
Koumakis Eugénie, Giraud Matthieu, Dieudé Philippe, Cohignac Vanessa, Cuomo Giovanna, Airò Paolo, Hachulla Eric, Matucci-Cerinic Marco, Diot Elizabeth, Caramaschi Paola, Mouthon Luc, Riccieri Valeria, Cracowski Jean-Luc, Tiev Kiet Phong, Francès Camille, Amoura Zahir, Sibilia Jean, Cosnes Anne, Carpentier Patrick, Valentini Gabriele, Manetti Mirko, Guiducci Serena, Meyer Olivier, Kahan André, Boileau Catherine, Chiocchia Gilles, Allanore Yannick
Abstract excerpt
OBJECTIVE: Systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) share some pathophysiologic bases as evidenced by individual and familial polyautoimmunity and common susceptibility genetic factors. With regard to the latter, there has been a recent shift from the "common variant" to the "rare variant" paradigm, since rare variants of TNFAIP3 and TREX1 with large effect sizes have recently been...
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