Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.
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ABSTRACT:
SUBMITTER: Sanna S
PROVIDER: S-EPMC3786343 | biostudies-literature | 2010 Jun
REPOSITORIES: biostudies-literature
Publications
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.
Sanna Serena S Pitzalis Maristella M Zoledziewska Magdalena M Zara Ilenia I Sidore Carlo C Murru Raffaele R Whalen Michael B MB Busonero Fabio F Maschio Andrea A Costa Gianna G Melis Maria Cristina MC Deidda Francesca F Poddie Fausto F Morelli Laura L Farina Gabriele G Li Yun Y Dei Mariano M Lai Sandra S Mulas Antonella A Cuccuru Gianmauro G Porcu Eleonora E Liang Liming L Zavattari Patrizia P Moi Loredana L Deriu Elisa E Urru M Francesca MF Bajorek Michele M Satta Maria Anna MA Cocco Eleonora E Ferrigno Paola P Sotgiu Stefano S Pugliatti Maura M Traccis Sebastiano S Angius Andrea A Angius Andrea A Melis Maurizio M Rosati Giulio G Abecasis Gonçalo R GR Uda Manuela M Marrosu Maria Giovanna MG Schlessinger David D Cucca Francesco F
Nature genetics 20100509 6
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 o ...[more]
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