ABSTRACT

Drug-induced liver injury (DILI) is an increasing health prob-

lem and a challenge for physicians, regulatory bodies, and the

pharmaceutical industry, mainly due to the potential severity and

undefined pathogenesis of this condition. In addition, DILI is often

inaccurately diagnosed, missed entirely, or not reported due to the

lack of reliable diagnostic biomarkers. Idiosyncratic DILI is generally

considered as unpredictable in terms of dose administration or

drug pharmacology. Hence, genetic variations are believed to play

an important role in DILI susceptibility. Polymorphisms in genes

involved in drugmetabolism, that is, phase I (bioactivation), phase II

(detoxification), and phase III (elimination), and the immune system

have been targeted for genetic DILI studies to date. This chapter

reviews the major findings in genetic DILI studies initially through

candidate gene approachmethods andmore recently using genome-

wide association (GWA) studies.