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Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.

Sanna, Serena; Pitzalis, Maristella; Zoledziewska, Magdalena; Zara, Ilenia; Sidore, Carlo; Murru, Raffaele; Whalen, Michael B; Busonero, Fabio; Maschio, Andrea; Costa, Gianna; Melis, Maria Cristina; Deidda, Francesca; Poddie, Fausto; Morelli, Laura; Farina, Gabriele; Li, Yun; Dei, Mariano; Lai, Sandra; Mulas, Antonella; Cuccuru, Gianmauro; Porcu, Eleonora; Liang, Liming; Zavattari, Patrizia; Moi, Loredana; Deriu, Elisa; Urru, M Francesca; Bajorek, Michele; Satta, Maria Anna; Cocco, Eleonora; Ferrigno, Paola; Sotgiu, Stefano; Pugliatti, Maura; Traccis, Sebastiano; Angius, Andrea; Melis, Maurizio; Rosati, Giulio; Abecasis, Gonçalo R; Uda, Manuela; Marrosu, Maria Giovanna; Schlessinger, David; Cucca, Francesco.

Nat Genet ; 42(6): 495-7, 2010 Jun.

Article in English | MEDLINE | ID: mdl-20453840

ABSTRACT

A genome-wide association scan of approximately 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 x 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.

Subject(s)

Adaptor Proteins, Signal Transducing/genetics , Major Histocompatibility Complex , Multiple Sclerosis/genetics , Proto-Oncogene Proteins c-cbl/genetics , Genetic Predisposition to Disease , Genome-Wide Association Study , Humans , Polymorphism, Single Nucleotide

ABSTRACT

Subject(s)

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