Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.
Détails
ID Serval
serval:BIB_72E0C108A6E6
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.
Périodique
Nature genetics
ISSN
1546-1718 (Electronic)
ISSN-L
1061-4036
Statut éditorial
Publié
Date de publication
06/2010
Peer-reviewed
Oui
Volume
42
Numéro
6
Pages
495-497
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Publication Status: ppublish
Résumé
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.
Mots-clé
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
Pubmed
Web of science
Création de la notice
18/01/2021 22:52
Dernière modification de la notice
19/01/2021 7:26