Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.
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在882例撒丁岛多发性硬化（MS）病例和872例对照中对约660万个基因分型或插补变异进行的全基因组关联扫描表明CBLB基因变异与疾病相关，这在1,775例病例和2,005例对照中得到证实（总体P =1.60 × 10-10）。CBLB编码适应性免疫应答的负调节因子，缺乏该同源物的小鼠易于发生实验性自身免疫性脑脊髓炎（MS的动物模型）。
A genome wide association scan of ~6.6 million genotyped or imputed variants in 882 Sardinian Multiple Sclerosis (MS) cases and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (overall P =1.60 × 10-10). CBLB encodes a negative regulator of adaptive immune responses and mice lacking the orthologue are prone to experimental autoimmune encephalomyelitis, the animal model of MS.
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