Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

Autor: Satta, Maria Anna, Maschio, Andrea, Zoledziewska, Magdalena, Poddie, Fausto, Pugliatti, Maura, Dei, Mariano, Sotgiu, Stefano, Ferrigno, Paola, Pitzalis, Maristella, Morelli, Laura, Liang, Liming, Sanna, Serena, Melis, Maria Cristina, Deidda, Francesca, Costa, Gianna, Zavattari, Patrizia, Deriu, Elisa, Porcu, Eleonora, Bajorek, Michele, Whalen, Michael B, Moi, Loredana, Lai, Sandra, Farina, Gabriele, Busonero, Fabio, Cocco, Eleonora, Cuccuru, Gianmauro, Mulas, Antonella, Sidore, Carlo, Urru, M Francesca, Zara, Ilenia, Li, Yun, Murru, Raffaele
Jazyk: angličtina
Rok vydání: 2010
DOI: 10.17615/pbgt-kq29
Popis: A genome wide association scan of ~6.6 million genotyped or imputed variants in 882 Sardinian Multiple Sclerosis (MS) cases and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (overall P =1.60 × 10-10). CBLB encodes a negative regulator of adaptive immune responses and mice lacking the orthologue are prone to experimental autoimmune encephalomyelitis, the animal model of MS.
Databáze: OpenAIRE