Drug-induced liver injury (DILI) risk prediction, diagnosis establishment, clinical management, and all other aspects are facing great challenges. Although the current understanding of its pathogenesis is still incomplete, research over the past 20 years has shown that genetic susceptibility may play an important role in the occurrence and development of DILI. In recent years, pharmacogenomics studies have further revealed the association between human leukocyte antigen (HLA) genes, some non-HLA genes, and hepatotoxicity from certain drugs. However, due to the lack of well-designed, prospective, large-sample cohort validation and low positive predictive values, there may still be some way to go before the current results can be truly translated into clinical practice for precise prediction and prevention of DILI risk.
药物性肝损伤（drug-induced liver injury, DILI）的风险预测、诊断建立及临床管理等都面临着巨大挑战。虽然目前对其发病机制的理解仍不全面，过去20年中的研究结果表明遗传易感性可能在DILI发生、发展中起到了重要作用。近年来，药物基因组学研究进一步揭示了人类白细胞抗原（human leukocyte antigen，HLA）基因和一些非HLA基因与特定药物肝毒性的关联。然而，缺乏设计良好、前瞻性、大样本队列验证，以及较低阳性预测值的现状，使得当前成果真正转化到临床，用于DILI风险的精准预测和防控，可能尚有距离。.
Keywords: Drug-induced liver injury; Genetic susceptibility; Human leukocyte antigen.