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Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

2010; Nature Portfolio; Volume: 42; Issue: 6 Linguagem: Inglês

10.1038/ng.584

1546-1718

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

T-cell and Retrovirus Studies

Francesco Cucca and colleagues perform a genome-wide association study for multiple sclerosis in Sardinians. The authors identify variants within CBLB that are associated with MS. 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.