Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

S Sanna, M Pitzalis, M Zoledziewska, I Zara, C Sidore… - Nature …, 2010 - nature.com
S Sanna, M Pitzalis, M Zoledziewska, I Zara, C Sidore, R Murru, MB Whalen, F Busonero
Nature genetics, 2010nature.com
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.
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.
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