Molecular epidemiology of UGT1A1 gene and its diagnostic value in Gilbert’s syndrome

Abstract

Gilbert’s syndrome (GS) is a kind of hereditary hyperbilirubinemia with a high incidence. GS patients show long-term intermittent mild unconjugated bilirubin increase, usually without hemolysis or liver structural lesions. The pathogenesis and pathophysiology of GS remain to be explored, and the diagnostic golden standard has not yet been established. Clinically, GS is confirmed by symptoms combined with serological tests, liver biopsy, stimulations or induction tests. With the development of molecular biology, studies show that the promoter region of UGT1A1 TATA box mutation, exon region missense mutation and phenobarbital reaction enhancer region c.-3279T>G (UGT1A1*60) mutation are closely related with the incidence of GS. UGT1A1 gene detection is widely used in clinical according to its safety, speed and high accuracy. We aim to extend our understanding of GS and utility of the UGT1A1 gene molecular epidemiology in GS by reviewing recent updates. Key words: Gilbert disease; UGT1A1; Hyperbilirubinemia