特殊类型系统性红斑狼疮致病基因研究

Pathogenic genes in specific systemic lupus erythematosus

系统性红斑狼疮(SLE)是一种发病机制复杂、临床表现多样的自身免疫性疾病。随着后基因组时代理论和技术创新,特别是基因检测技术的进步,已相继发现30余种与SLE发病相关的致病基因,并据此提出“单基因狼疮”概念。本文将针对这些基因,从发病机制、临床表现、基因诊断等方面进行综述,以提高对该领域的关注,推动相关研究的开展。

Systemic lupus erythematosus(SLE)is an autoimmune disease with complex pathogenesis and diverse clinical manifestations.In recent years,as theoretical and technological innovations in the post⁃genomic era,specifically advances in gene detection techniques,over 30 disease⁃causing genes for SLE have been identified and the concept of“Monogenic lupus”has been proposed.This review will focus on the pathogenesis,clinical manifestations and genetic diagnosis of these genes,so as to raise awareness of the genetic contribution to SLE and advance further research.