77 C/G mutation in the tyrosine phosphatase CD45 gene and autoimmune hepatitis: evidence for a genetic link
77 C/G mutation in the tyrosine phosphatase CD45 gene and autoimmune hepatitis: evidence for a genetic link
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酪氨酸磷酸酶 CD45 基因 77 C/G 突变与自身免疫性肝炎：遗传联系的证据
DOI：
10.1038/sj.gene.6363918
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发表时间：
2003
影响因子：
5
通讯作者：
Michael P. Manns
中科院分区：
文献类型：
--
作者：
A. Vogel;Christian P. Strassburg;Michael P. Manns
自身免疫性肝炎是一种慢性免疫介导性疾病，其特征是对肝脏常驻抗原的耐受性丧失。自身免疫性肝炎的遗传背景被认为是多基因的。在这里，我们分析了酪氨酸磷酸酶CD45和自身免疫性肝炎的遗传关联。CD45在正常抗原受体介导的T、B细胞信号转导中起重要作用。CD45基因第77位核苷酸的点突变导致CD45剪接异常。在这项研究中，190名自身免疫性肝炎患者与210名健康献血员相比，77C/G基因型的频率显着增加。我们的数据证实CD45是一个与AIH相关的基因，并进一步证实了CD45是人类自身免疫调节基因的假说。
Autoimmune hepatitis is a chronic immune-mediated disease characterized by a loss of tolerance against liver resident antigens. The genetic background of autoimmune hepatitis is considered to be polygenic. Here we analyzed the genetic association of the tyrosine phosphatase CD45 and autoimmune hepatitis. CD45 plays an important role in normal antigen receptor mediated signaling in T and B cells. A point mutation at nucleotide position 77 of the CD45 gene results in abnormal CD45 splicing. In this study a significantly higher frequency of the 77 C/G genotype was observed in 190 autoimmune hepatitis patients when compared to 210 healthy blood donors. Our data identify CD45 as a gene associated with AIH, and further substantiates the hypothesis that CD45 represents a modifier gene of human autoimmunity.