title: Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.
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.
authors.affiliation: Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Monserrato, Italy.
authors.forename: Serena
authors.initials: S
authors.lastname: Sanna
authors.forename: Maristella
authors.initials: M
authors.lastname: Pitzalis
authors.forename: Magdalena
authors.initials: M
authors.lastname: Zoledziewska
authors.forename: Ilenia
authors.initials: I
authors.lastname: Zara
authors.forename: Carlo
authors.initials: C
authors.lastname: Sidore
authors.forename: Raffaele
authors.initials: R
authors.lastname: Murru
authors.forename: Michael B
authors.initials: MB
authors.lastname: Whalen
authors.forename: Fabio
authors.initials: F
authors.lastname: Busonero
authors.forename: Andrea
authors.initials: A
authors.lastname: Maschio
authors.forename: Gianna
authors.initials: G
authors.lastname: Costa
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Melis
authors.forename: Francesca
authors.initials: F
authors.lastname: Deidda
authors.forename: Fausto
authors.initials: F
authors.lastname: Poddie
authors.forename: Laura
authors.initials: L
authors.lastname: Morelli
authors.forename: Gabriele
authors.initials: G
authors.lastname: Farina
authors.forename: Yun
authors.initials: Y
authors.lastname: Li
authors.forename: Mariano
authors.initials: M
authors.lastname: Dei
authors.forename: Sandra
authors.initials: S
authors.lastname: Lai
authors.forename: Antonella
authors.initials: A
authors.lastname: Mulas
authors.forename: Gianmauro
authors.initials: G
authors.lastname: Cuccuru
authors.forename: Eleonora
authors.initials: E
authors.lastname: Porcu
authors.forename: Liming
authors.initials: L
authors.lastname: Liang
authors.forename: Patrizia
authors.initials: P
authors.lastname: Zavattari
authors.forename: Loredana
authors.initials: L
authors.lastname: Moi
authors.forename: Elisa
authors.initials: E
authors.lastname: Deriu
authors.forename: M Francesca
authors.initials: MF
authors.lastname: Urru
authors.forename: Michele
authors.initials: M
authors.lastname: Bajorek
authors.forename: Maria Anna
authors.initials: MA
authors.lastname: Satta
authors.forename: Eleonora
authors.initials: E
authors.lastname: Cocco
authors.forename: Paola
authors.initials: P
authors.lastname: Ferrigno
authors.forename: Stefano
authors.initials: S
authors.lastname: Sotgiu
authors.forename: Maura
authors.initials: M
authors.lastname: Pugliatti
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Traccis
authors.forename: Andrea
authors.initials: A
authors.lastname: Angius
authors.forename: Maurizio
authors.initials: M
authors.lastname: Melis
authors.forename: Giulio
authors.initials: G
authors.lastname: Rosati
authors.forename: Gonçalo R
authors.initials: GR
authors.lastname: Abecasis
authors.forename: Manuela
authors.initials: M
authors.lastname: Uda
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Marrosu
authors.forename: David
authors.initials: D
authors.lastname: Schlessinger
authors.forename: Francesco
authors.initials: F
authors.lastname: Cucca
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008285:Major Histocompatibility Complex; D009103:Multiple Sclerosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D050721:Proto-Oncogene Proteins c-cbl / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C492211:CBLB protein, human; D050721:Proto-Oncogene Proteins c-cbl
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