西亚试剂：Variants within the immunoregulatory CBLB gene are associat

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis
Serena Sanna1,18, Maristella Pitzalis2,18, Magdalena Zoledziewska2,18, Ilenia Zara3, Carlo Sidore1,4, Raffaele Murru5, Michael B Whalen4, Fabio Busonero1, Andrea Maschio1, Gianna Costa5, Maria Cristina Melis5, Francesca Deidda2, Fausto Poddie2, Laura Morelli2, Gabriele Farina6, Yun Li7,8,9, Mariano Dei1, Sandra Lai1, Antonella Mulas1, Gianmauro Cuccuru1, Eleonora Porcu1, Liming Liang7,10,11, Patrizia Zavattari12, Loredana Moi5, Elisa Deriu2, M Francesca Urru4, Michele Bajorek13, Maria Anna Satta14, Eleonora Cocco5, Paola Ferrigno15, Stefano Sotgiu6, Maura Pugliatti6, Sebastiano Traccis16, Andrea Angius4, Maurizio Melis15, Giulio Rosati6, Gon?alo R Abecasis7, Manuela Uda1, Maria Giovanna Marrosu5, David Schlessinger17 & Francesco Cucca1,2

A genome-wide association scan of ~6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (rs9657904, overall P = 1.60 × 10?10, OR = 1.40). CBLB encodes a negative regulator of adaptive immune responses, and mice lacking the ortholog are prone to experimental autoimmune encephalomyelitis, the animal model of multiple sclerosis.

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