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Updated: Jun 22, 2026

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
Published on: May 10, 2024
Uridine diphosphate glucuronosyl transferase 1A1 promoter polymorphism is associated with choledocholithiasis in
Cheng-Hsin Chu1, An-Ming Yang, Jia-Horng Kao
1Gastroenterology Section, Department of Internal Medicine, Mackay Memorial Hospital and Mackay Medicine, Nursing and Management College, Taipei, Taiwan.
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](6)TAA homozygous); 15 (46.9%) were a heterozygous variation (A[TA[(6)TAA/A[TA](7)TAA) and 2 (6.2%) were a homozygous variation (A[TA](7)TAA). 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.
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