基因CD247与1型糖尿病合并自身免疫性甲状腺疾病的相关性研究进展

Research progress of the relationship between gene CD247 and type 1 diabetes with autoimmune thyroid disease

糖尿病和自身免疫性甲状腺疾病已成为当前研究的热点,1型糖尿病(T1DM)患者易同时合并各种自身免疫性疾病,其中自身免疫性甲状腺疾病(AITD)是与1型糖尿病相关的最常见的自身免疫疾病。1型糖尿病与自身免疫性甲状腺疾病的发生与遗传易感性有关,已有多个全基因组连锁扫描(GWLS)研究证明T1DM与AITD的发生与多个基因位点相关,包括PTPN22、CTLA4、HLA-DRB1、INS、IFIH1及C12orf30基因等,其中,近些年新发现的相关基因位点CD247,其主要编码CD3ζ链,通过参与TCR/CD3复合物的装配和稳定以及信号转导,而介导1型糖尿病和自身免疫性疾病的发生。本文对新的基因位点CD247进行简要综述。

Diabetes mellitus and autoimmune thyroid disease has become the hot spot at present.Researchers deen that patients with type 1 diabetes are especially vulnerable to autoimmune disease,which the most common autoimmune disease associated with type 1 diabetes is autoimmune thyroid disease.Several genome-wide linkage scans(GWLS)studies have revealed several risk factor genes for T1DM and AITD,which include PTPN22,CTLA4,HLA-DRB1,INS,IFIH1 and C12 orf30.In addition,CD247 as a novel susceptibility gene,mainly encodes CD3-zeta chain,mediates the development of type 1 diabetes mellitus and autoimmune diseases by participating in the assembly and stabilization of TCR/CD3 complexes and signal transduction.This article we summarize the correation between CD247 and T1DM/AITD.