Uridine diphosphate glucuronosyl transferase 1A1 promoter polymorphism is associated with choledocholithiasis in Taiwanese patients
Journal
Journal of Gastroenterology and Hepatology (Australia)
Journal Volume
24
Journal Issue
9
Pages
1559-1561
Date Issued
2009
Author(s)
Abstract
Background and aims: The gene product of the uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1) is crucial to bilirubin metabolism. Mutations in this gene subsequently result in disease presented with unconjugated hyperbilirubinemia. A previous study showed that a TA-repeat polymorphism in the promoter region of this gene might play a role in the metabolism of bilirubin. Whether this polymorphism might predispose choledocholithiasis is unclear. Methods: We recruited 32 patients who were diagnosed with pigment choledocholithiasis (common bile duct stones) by endoscopic retrograde cholangiopancreatography (ERCP) morphology and 107 population controls. The TA-repeat in the UGT1A1 promoter was genotyped. Results: We found that among the 32 patients, 15 (46.9%) were wild type (A[TA]6TAA homozygous); 15 (46.9%) were a heterozygous variation (A[TA[6TAA/A[TA]7TAA) and 2 (6.2%) were a homozygous variation (A[TA]7TAA). Among the controls, 81 (75.7%) were wild type, 23 (21.5%) were a heterozygous variation and 3 (2.8%) were a homozygous variation. The genotype distribution was significantly different between patients and controls. Conclusions: The results suggest that the UGT1A1 promoter TA-repeat polymorphism is associated with choledocholithiasis in Taiwanese patients. ? 2009 Journal of Gastroenterology and Hepatology Foundation and Blackwell Publishing Asia Pty Ltd.
SDGs
Other Subjects
glucuronosyltransferase 1A1; adult; aged; article; clinical article; common bile duct stone; controlled study; endoscopic retrograde cholangiopancreatography; female; genetic variability; genotype; human; male; priority journal; protein polymorphism; Taiwan; Adult; Aged; Aged, 80 and over; Asian Continental Ancestry Group; Case-Control Studies; Cholangiopancreatography, Endoscopic Retrograde; Choledocholithiasis; Female; Gene Frequency; Genetic Predisposition to Disease; Glucuronosyltransferase; Heterozygote; Homozygote; Humans; Male; Middle Aged; Odds Ratio; Phenotype; Polymorphism, Genetic; Promoter Regions, Genetic; Risk Assessment; Taiwan
Publisher
Blackwell Publishing
Type
journal article