自身免疫风险等位基因：B 细胞调控信号通路中的热点。
Autoimmunity risk alleles: hotspots in B cell regulatory signaling pathways.
机构信息
Integrated Department of Immunology, University of Colorado School of Medicine and National Jewish Health, Denver, Colorado, USA.
出版信息
J Clin Invest. 2013 May;123(5):1928-31. doi: 10.1172/JCI69289. Epub 2013 Apr 24.
Abstract
Autoimmunity is the consequence of the combination of genetic predisposition and environmental effects, such as infection, injury, and constitution of the gut microbiome. In this edition of the JCI, Dai et al. describe the use of knockin technology to test the mechanism of action of a polymorphism in the protein tyrosine phosphatase nonreceptor 22 (PTPN22) (LYP) that is associated with susceptibility to multiple autoimmune diseases. The function of this allele, and that of a disproportionate number of autoimmune disease risk alleles, suggests that inhibitory signaling pathways that maintain B lymphocyte immune tolerance may represent an Achilles' heel in the prevention of autoimmunity.
摘要
自身免疫是遗传易感性和环境影响（如感染、损伤和肠道微生物组组成）共同作用的结果。在这一期的 JCI 中，Dai 等人描述了使用基因敲入技术来测试与多种自身免疫性疾病易感性相关的蛋白酪氨酸磷酸酶非受体 22（PTPN22）（LYP）蛋白突变的作用机制。该等位基因的功能以及相当数量的自身免疫疾病风险等位基因的功能表明，维持 B 淋巴细胞免疫耐受的抑制信号通路可能代表预防自身免疫的阿喀琉斯之踵。
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