Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis
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Updated: Jun 13, 2026

Quantification of Autoreactive Antibodies in Mice upon Experimental Autoimmune Encephalomyelitis
Published on: December 1, 2023
Serena Sanna1, Maristella Pitzalis, Magdalena Zoledziewska
1Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Monserrato, Italy.
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.
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