Advances in the SNPs of TNFAIP3 gene and autoimmune diseases / 国际儿科学杂志

ABSTRACT

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.