Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

Nat Genet. 2010 Jun;42(6):495-7. doi: 10.1038/ng.584. Epub 2010 May 9.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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*


  • Adaptor Proteins, Signal Transducing
  • CBLB protein, human
  • Proto-Oncogene Proteins c-cbl