自身免疫性肝炎（AIH）是一种由异常自身免疫反应介导的慢性炎症性肝病。AIH 确切的病因和发病机制尚不清楚，环境因 素、遗传背景均可能参与 AIH 的发生和发展。近年来，AIH 的遗传学研究越来越受到关注，多个 AIH 相关的基因已被报道。目前人 类白细胞抗原（HLA）多态性位点是 AIH 最明确的遗传风险因子，且与疾病临床表型相关。全基因组关联分析发现了 2 个非 HLA 区 域的遗传易感基因，即 SH2B3 和 CARD10。AIH 遗传学研究有助于进一步揭示 AIH 的遗传发病机制。

Autoimmune hepatitis (AIH) is an autoimmune liver disorder characterized by chronic inflammation of liver. Although the etiology of AIH remains obscure, genetic and environmental factors may contribute to the development of AIH. In the past years, investigators have attempted to uncover the genetic architecture of AIH. Multiple genetic loci have been reported to be associated with AIH, in which human leukocyte antigen (HLA) alleles were strongly associated with disease onset and clinical manifestations for decades. A recent genome wide association study identified that two loci (SH2B3 and CARD10) increased susceptibility of AIH, in addition to the HLA loci. The genetic study is aiming to help to elucidate the genetic pathogenesis
 for AIH.