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Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

Sanna, Serena and Pitzalis, Maristella and Zoledziewska, Magdalena and Zara, Ilenia and Sidore, Carlo and Murru, Raffaele and Whalen, Michael B. and Busonero, Fabio and Maschio, Andrea and Costa, Gianna and Melis, Maria Cristina and Deidda, Francesca and Poddie, Fausto Pier'Angelo and Morelli, Laura Cornelia Clotilde and Farina, Gabriele and Li, Yun and Dei, Mariano and Lai, Sandra and Mulas, Antonella and Cuccuru, Gianmauro and Porcu, Elenora and Liang, Liming and Zavattari, Patrizia and Moi, Loredana and Deriu, Elisa and Urru, M. Francesca and Bajorek, Michele and Satta, Maria Anna and Cocco, Eleonora and Ferrigno, Paola and Sotgiu, Stefano and Pugliatti, Maura and Traccis, Sebastiano and Angius, Andrea and Melis, Maurizio and Rosati, Giulio and Abecasis, Gonçalo and Uda, Manuela and Marrosu, Maria Giovanna and Schlessinger, David and Cucca, Francesco (2010) Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. Nature Genetics, Vol. 42 (6), p. 495-497. eISSN 1546-1718. Article.

Full text not available from this repository.

DOI: 10.1038/ng.584

Abstract

A genome-wide association scan of ~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 × 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.

Item Type:Article
ID Code:3976
Status:Published
Refereed:Yes
Uncontrolled Keywords:CBLB gene variants, multiple sclerosis, immunoregulation, Sardinia
Subjects:Area 06 - Scienze mediche > MED/03 Genetica medica
Area 06 - Scienze mediche > MED/26 Neurologia
Area 05 - Scienze biologiche > BIO/18 Genetica
Divisions:002 Altri enti e centri di ricerca del Nord Sardegna > CRS4 Center for Advanced Studies, Research and Development in Sardinia, Pula > Genomica
001 Università di Sassari > 01 Dipartimenti > Scienze biomediche
002 Altri enti e centri di ricerca del Nord Sardegna > CRS4 Center for Advanced Studies, Research and Development in Sardinia, Pula > Bioinformatica
002 Altri enti e centri di ricerca del Nord Sardegna > Azienda ASL1, Sassari
001 Università di Sassari > 03 Istituti > Clinica neurologica
002 Altri enti e centri di ricerca del Nord Sardegna > Azienda ASL1, Sassari > Ospedale "A. Segni", Ozieri > Divisione neurologia
Publisher:Nature Publishing Group
eISSN:1546-1718
Publisher Policy:© 2010 Nature America
Deposited On:27 May 2010 10:59

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