Role of UGT1A1 gene polymorphism in the pathogenesis of Gilbert syndrome
As a bilirubin metabolic disorder, Gilbert syndrome belongs to the category of congenital non-hemolytic jaundice. Deficiency or decrease in the activity of bilirubin-uridine diphosphate glucuronyltransferase (UGT) is an important reason for the pathogenesis of Gilbert syndrome. UGT1A1, an isoenzyme...
| Main Authors: | , , |
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| Format: | Article |
| Language: | zho |
| Published: |
Editorial Department of Journal of Clinical Hepatology
2016-03-01
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| Series: | Linchuang Gandanbing Zazhi |
| Online Access: | http://www.lcgdbzz.org/qk_content.asp?id=7281 |
| Summary: | As a bilirubin metabolic disorder, Gilbert syndrome belongs to the category of congenital non-hemolytic jaundice. Deficiency or decrease in the activity of bilirubin-uridine diphosphate glucuronyltransferase (UGT) is an important reason for the pathogenesis of Gilbert syndrome. UGT1A1, an isoenzyme of UGT, is a key enzyme to direct bilirubin in the liver. Mutations in UGT1A1 gene lead to the structural abnormality of UGT, and thus result in the decrease or loss of the ability of UGT to bind bilirubin. This article summarizes the research advances in the role of UGTA1 and its polymorphism in the pathogenesis and diagnosis of Gilbert syndrome. |
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| ISSN: | 1001-5256 1001-5256 |