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

Nat Genet 2010 Jun 9;42(6):495-7. Epub 2010 May 9.

Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Monserrato, Italy.

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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http://dx.doi.org/10.1038/ng.584DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3786343PMC
June 2010
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