Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.
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.
Sanna
Serena
S
Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Monserrato, Italy.
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
Melis
Maurizio
M
Rosati
Giulio
G
Abecasis
Gonçalo R
GR
Uda
Manuela
M
Marrosu
Maria Giovanna
MG
Schlessinger
David
D
Cucca
Francesco
F
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*
D048868:Adaptor Proteins, Signal Transducing; C492211:CBLB protein, human; D050721:Proto-Oncogene Proteins c-cbl
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