TNFAIP3是核因子κB信号通路的负向调节基因.TNFAIP3编码的蛋白A20具有强大的抗炎功能,在炎症和免疫的调节中发挥着重要作用.近年来TNFAIP3作为多种自身免疫性疾病的易感基因备受关注,包括系统性红斑狼疮、类风湿关节炎、银屑病等.此外,TNFAIP3高外显率杂合突变导致A20单倍剂量不足(haploinsufficiency of A20,HA20).HA20是一种单基因自身炎症性疾病,但是部分HA20患者具有自身免疫性疾病相关的临床表型,包括不同程度的自身抗体阳性、狼疮样表型、自身免疫性甲状腺疾病等.该文聚焦于TNFAIP3的单核苷酸多态性及相关的自身免疫性疾病,旨在强调TNFAIP3在相关疾病发生发展以及治疗中的意义,为自身免疫性疾病提供新的研究思路以及可能的药物治疗靶点.
Advances in the SNPs of TNFAIP3 gene and autoimmune diseases
The gene TNFAIP3 acts as a negative regulator of the NF-κB signaling pathway.TNFAIP3 encodes the A20 protein,which exerts a potent anti-inflammatory effect and plays a pivotal role in the regulation of inflammation and immunity.In recent years,TNFAIP3 has garnered significant attention as a susceptibility gene for numerous autoimmune diseases,including but not limited to systemic lupus erythematosus,rheumatoid arthritis,psoriasis.Additionally,high-penetrance heterozygous mutations in TNFAIP3 cause a haploinsufficiency of A20(HA20).HA20 is a monogenic autoinflammatory disease.But some individuals of HA20 exhibit clinical features of autoimmune diseases,including varying degrees of autoantibody positivity,lupus-like phenotypes,and autoimmune thyroid disease.This article focuses on the single nucleotide polymorphism of TNFAIP3 and related autoimmune diseases,to underscore the crucial role of TNFAIP3 in the pathogenesis of autoimmune diseases,and to provide new research directions and potential drug targets for these conditions.
NETL
NSTL
万方数据
