TLR7基因的SNP和CNV与自身免疫性疾病相关性的研究进展

Progress in research on TLR7 gene single nucleotide polymorphisms and copy number variations in autoimmune diseases

自身免疫性疾病（autoimmune diseases，AID）是指抗体作用于自身抗原，导致机体受到损害所致的一类复杂性疾病，被认为是遗传和环境共同作用的结果。近期研究表明，AID患者易感性的升高可能与Toll样受体7基因单核苷酸多态性与拷贝数变异相关，这为进一步了解AID的发病机制提供了线索。本文就其研究现状进行综述。

Autoimmune diseases （AID） are a group of complex disorders due to antibodies acting on self-antigens causing damage to the body. AID has long been considered as the outcome of genetic and environmental interactions. In recent years, studies have shown that increased susceptibility to AID may be associated with single nucleotide polymorphisms and copy number variations of Toll like receptor 7 （TLR7） gene, which provided a clue to further understanding of the pathogenesis of AID. This paper provides a review of the recent advances in understanding of the roles of TLR7 gene single nucleotide polymorphisms and copy number variations in AID.