A genome-wide association scan of similar to 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.

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis / Sanna, S; Pitzalis, M; Zoledziewska, M; Zara, I; Sidore, C; Murru, R; Whalen, Mb; Busonero, F; Maschio, A; Costa, G; Melis, Mc; Deidda, F; Poddie, F; Morelli, Laura Cornelia Clotilde; Farina, G; Li, Y; Dei, M; Lai, S; Mulas, A; Cuccuru, G; Porcu, E; Liang, Lm; Zavattari, P; Moi, L; Deriu, E; Urru, Mf; Bajorek, M; Satta, Ma; Cocco, E; Ferrigno, P; Sotgiu, Stefano; Pugliatti, M; Traccis, S; Angius, A; Melis, M; Rosati, G; Abecasis, Gr; Uda, M; Marrosu, Mg; Schlessinger, D; Cucca, Francesco. - In: NATURE GENETICS. - ISSN 1061-4036. - 42:6(2010), pp. 495-497. [10.1038/ng.584]

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

MORELLI, Laura Cornelia Clotilde;SOTGIU, Stefano;CUCCA, Francesco
2010-01-01

Abstract

A genome-wide association scan of similar to 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.
2010
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis / Sanna, S; Pitzalis, M; Zoledziewska, M; Zara, I; Sidore, C; Murru, R; Whalen, Mb; Busonero, F; Maschio, A; Costa, G; Melis, Mc; Deidda, F; Poddie, F; Morelli, Laura Cornelia Clotilde; Farina, G; Li, Y; Dei, M; Lai, S; Mulas, A; Cuccuru, G; Porcu, E; Liang, Lm; Zavattari, P; Moi, L; Deriu, E; Urru, Mf; Bajorek, M; Satta, Ma; Cocco, E; Ferrigno, P; Sotgiu, Stefano; Pugliatti, M; Traccis, S; Angius, A; Melis, M; Rosati, G; Abecasis, Gr; Uda, M; Marrosu, Mg; Schlessinger, D; Cucca, Francesco. - In: NATURE GENETICS. - ISSN 1061-4036. - 42:6(2010), pp. 495-497. [10.1038/ng.584]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11388/60921
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