Role of UGT1A1 gene polymorphism in the pathogenesis of Gilbert syndrome
10.3969/j.issn.1001-5256.2016.03.047
- VernacularTitle:胆红素-尿苷二磷酸葡萄糖醛酸转移酶A1基因多态性在Gilbert综合征发病机制中的作用
- Author:
Jinyun SONG
1
;
Mei SUN
;
Jiayan LI
Author Information
1. Clinical Research Center, The Second Hospital of Nanjing Affiliated to Southeast University, Nanjing 210003, China
- Publication Type:Research Article
- Keywords:
Gilbert disease;
uridine diphosphate glucuronic acid;
glucuronosyltransferase;
polymorphism, genetic;
review
- From:
Journal of Clinical Hepatology
2016;32(3):609-612
- CountryChina
- Language:Chinese
-
Abstract:
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.
