Chu C.-H.Yang A.-M.JIA-HORNG KAOLiu C.-Y.Chang W.-H.WEI-SHIUNG YANG2021-07-022021-07-0220090815-9319https://www.scopus.com/inward/record.uri?eid=2-s2.0-69949177187&doi=10.1111%2fj.1440-1746.2009.05867.x&partnerID=40&md5=5cad7d088ef66bdd13b00cc705b282bfhttps://scholars.lib.ntu.edu.tw/handle/123456789/567645Background 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]SDG3glucuronosyltransferase 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; Taiwanjournal article10.1111/j.1440-1746.2009.05867.x194862532-s2.0-69949177187