Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis
Academic Article
Publication Date:
2010
Short description:
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis / Sanna, S., Pitzalis, M., Zoledziewska, M., Zara, I., Sidore, C., Murru, R., Whalen, M.b., Busonero, F., Maschio, A., Costa, G., Melis, M.c., Deidda, F., Poddie, F., Morelli, L.C.C., Farina, G., Li, Y., Dei, M., Lai, S., Mulas, A., Cuccuru, G., et al.. - In: NATURE GENETICS. - ISSN 1061-4036. - 42:6(2010), pp. 495-497. [10.1038/ng.584]
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.
Iris type:
1.1 Articolo in rivista
List of contributors:
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
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