期刊
NATURE GENETICS
卷 42, 期 6, 页码 495-497出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.584
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资金
- Fondazione Italiana Sclerosi Multipla (FISM) [Cod. 2008/R/7]
- Italian Ministry of Scientific Research (MIUR) [2007KXNKNP]
- US National Institutes of Health [NO1-AG-1-2109]
- National Institute of Aging (NIA)
- NIH [HG002651, HG005214, MH084698]
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [R01HG002651, U01HG005214] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF MENTAL HEALTH [R01MH084698] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE ON AGING [ZIAAG000675] Funding Source: NIH RePORTER
A genome-wide association scan of similar to 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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