Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.

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Serval ID
serval:BIB_72E0C108A6E6
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Production externe
Title
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.
Journal
Nature genetics
Author(s)
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., Farina G., Li Y., Dei M., Lai S., Mulas A., Cuccuru G., Porcu E., Liang L., Zavattari P., Moi L., Deriu E., Urru M.F., Bajorek M., Satta M.A., Cocco E., Ferrigno P., Sotgiu S., Pugliatti M., Traccis S., Angius A., Melis M., Rosati G., Abecasis G.R., Uda M., Marrosu M.G., Schlessinger D., Cucca F.
ISSN
1546-1718 (Electronic)
ISSN-L
1061-4036
Publication state
Published
Issued date
06/2010
Peer-reviewed
Oui
Volume
42
Number
6
Pages
495-497
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
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.
Keywords
Adaptor Proteins, Signal Transducing/genetics, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Major Histocompatibility Complex, Multiple Sclerosis/genetics, Polymorphism, Single Nucleotide, Proto-Oncogene Proteins c-cbl/genetics
DOI
10.1038/ng.584
Pubmed
20453840
Web of science
000278081500013
Create date
18/01/2021 22:52
Last modification date
19/01/2021 7:26
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