Division of Gastroenterology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 430022, Wuhan, China.
Sci Rep. 2018 Jan 31;8(1):2008. doi: 10.1038/s41598-018-19847-4.
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 UGT1A128/6 allele gene was found in GS patients. The post-hepatitis group showed a significant difference in the UGT1A128/6 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 UGT1A128/6 allele gene frequency and UGT1A1 diplotypes. UGT1A128/*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.
吉尔伯特综合征（GS）患者表现为间歇性未结合高胆红素血症。本研究旨在探讨编码 UDP-葡萄糖醛酸基转移酶 1A1（UGT1A1）的基因多态性与临床 GS 和肝炎后高胆红素血症患者未结合高胆红素血症发展之间的相关性。采集了 285 例患者的血样，包括 85 例临床诊断为 GS 的患者、70 例慢性肝病恢复期间接高胆红素血症患者、109 例肝功能正常患者和 21 例慢性活动性肝炎患者。所有样本均采用焦磷酸测序法检测 UGT1A1*28/6 基因型。与 GS 对照组相比，GS 患者 UGT1A128/6 等位基因变异存在显著差异。与肝炎对照组相比，肝炎后组 UGT1A128/6 等位基因频率分布存在显著差异。GS 组与肝炎后组 UGT1A128/6 等位基因频率和 UGT1A1 单体型分布无显著差异。慢性肝病恢复期间接高胆红素血症患者 UGT1A128/*6 基因多态性与 GS 患者相似。这些发现表明，“吉尔伯特样”综合征可能是慢性肝炎后持续性未结合高胆红素血症谱的一部分。
