文章摘要

PTPN22基因多态性与Graves病

作者: 1叶娟, 1任安
1 安徽医科大学附属省立医院内分泌科,合肥 230001
通讯: 任安 Email: ren_an@163.com

摘要

弥漫性甲状腺亢进(Graves病)是一种多因素引起的疾病,遗传易感性在其发病中起到重要的作用。蛋白酪氨酸磷酸酶非受体型22(protein tyrosine phosphatase non-receptor type 22,PTPN22)基因作为其多种自身免疫性疾病的易感基因,被认为通过编码淋巴酪氨酸磷酸酶,在T细胞信号转导中起负性调节作用,可维持免疫系统平衡。而PTPN22的 C1858T基因多态性,会使T细胞表面受体的信号减弱和调节性T细胞出现功能缺陷,从而引起Graves病的发生。
关键词: 蛋白酪氨酸磷酸酶非受体型22;基因多态性;弥漫性甲状腺亢进;T淋巴细胞

PTPN22 gene polymorphism and Graves disease

Authors: 1YE Juan, 1REN An
1 Department of Endocrinology, Anhui Provincial Hospital Affiliated to Anhui Medical University, Hefei 230001, China

CorrespondingAuthor: REN An Email: ren_an@163.com

Abstract

Diffuse hyperthyroidism (Graves disease) is a disease caused by many factors and genetic susceptivity may play a key role in pathogenesis of Graves disease. As a susceptibility gene for many autoimmune diseases, protein tyrosine phosphatase non-receptor type 22 (PTPN22) plays negative regulation of T-cell signal transduction and in maintaining the immune system balance through encoding lymphoid tyrosine phosphatase (LYP), PTPN22 gene polymorphism (C1858T) leads to the decrease in T cell surface receptors (TCR) signaling and the functional defection in the regulatory T cells (Tregs), subsequently results in Graves disease.

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