Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Monserrato, Italy.
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.
对 882 名多发性硬化症患者（病例）和 872 名对照者的约 660 万个已分型或已推断的变体进行全基因组关联扫描，提示 CBLB 基因变体与疾病相关，在 1775 例病例和 2005 例对照者中得到证实（rs9657904，总 P=1.60x10(-10)，OR=1.40）。CBLB 编码适应性免疫反应的负调节剂，缺乏同源物的小鼠易患多发性硬化症的动物模型实验性自身免疫性脑脊髓炎。
