Abstract
Gilbert’s syndrome (GS) patients present with remittent unconjugated hyperbilirubinemia. In this study, we investigated the correlation between polymorphisms in the gene encoding UDP-glucuronosyltransferase, UGT1A1, and the development of unconjugated hyperbilirubinemia in clinical GS and post-hepatitis hyperbilirubinemia. Blood samples were collected from 285 patients, including 85 patients who were clinically diagnosed with GS, 70 patients who had indirect hyperbilirubinemia during the recovery period of chronic liver diseases, 109 patients with normal hepatic function and 21 chronic active hepatitis patients. All samples were tested for the presence of the *28/*6 UGT1A1 genotype by pyrosequencing. Compared with the GS-control group, a significant difference in variations of the UGT1A1*28/*6 allele gene was found in GS patients. The post-hepatitis group showed a significant difference in the UGT1A1*28/*6 allele gene frequency distribution relative to that in the hepatitis control group. There were no significant differences between the GS group and post-hepatitis group in the distribution of the UGT1A1*28/*6 allele gene frequency and UGT1A1 diplotypes. UGT1A1*28/*6 gene polymorphisms in patients who had indirect hyperbilirubinemia while recovering from chronic liver diseases presented similar patterns as those seen for GS patients. These findings suggest that a “Gilbert’s-like” syndrome might be part of the spectrum of persistent unconjugated hyperbilirubinemia in post-chronic hepatitis patients.
Highlights
Gilbert’s syndrome (GS) was first reported in 1901 by Augustin Gilbert and is characterized by remittent unconjugated hyperbilirubinemia due to partial or complete absence of bilirubin uridine diphosphate (UDP)-glucuronosyl-transferase 1 (UGT1) activity[1,2]
Our study investigated the characteristics of UGT1A1 polymorphisms in Chinese patients with post-hepatitis hyperbilirubinemia and Gilbert’s syndrome (GS)
UGT1A1*28/*6 gene polymorphisms are correlated with the development of unconjugated hyperbilirubinemia in both clinical GS and post-hepatitis hyperbilirubinemia
Summary
Gilbert’s syndrome (GS) was first reported in 1901 by Augustin Gilbert and is characterized by remittent unconjugated hyperbilirubinemia due to partial or complete absence of bilirubin uridine diphosphate (UDP)-glucuronosyl-transferase 1 (UGT1) activity[1,2]. Persistent or intermittent mild unconjugated hyperbilirubinemia can be detected in many patients with chronic persistent hepatitis For these patients, there is no indication for the treatment for liver inflammation because the liver enzyme indices are usually normal, viral DNA is undetectable, and ultrasound tests often do not indicate liver disease. Felsher et al demonstrated that the mean UGT1A1 activity was significantly lower in 12 patients with chronic persistent hepatitis, and these patients presented with persistent or intermittent mild unconjugated hyperbilirubinemia compared with healthy individuals[14]. We investigated the correlation between UGT1A1 gene polymorphisms and the development of unconjugated hyperbilirubinemia in GS and post-hepatitis hyperbilirubinemia, and provide a new strategy for the possible aetiology, pathogenesis and therapy for “Gilbert’s like” syndrome in persistent or intermittent mild unconjugated hyperbilirubinemia in post-chronic liver disease
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