Brief Reports
Copyright ©The Author(s) 2005. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Sep 28, 2005; 11(36): 5710-5713
Published online Sep 28, 2005. doi: 10.3748/wjg.v11.i36.5710
Effects of variant UDP-glucuronosyltransferase 1A1 gene, glucose-6-phosphate dehydrogenase deficiency and thalassemia on cholelithiasis
Yang-Yang Huang, Ching-Shui Huang, Sien-Sing Yang, Min-Shung Lin, May-Jen Huang, Ching-Shan Huang
Yang-Yang Huang, May-Jen Huang, Department of Laboratory Medicine, Cathay General Hospital, Taipei, Taiwan, China
Ching-Shui Huang, Department of General Surgery, Cathay General Hospital, Taipei, Taiwan, China
Sien-Sing Yang, Department of Liver Unit, Cathay General Hospital, Taipei, Taiwan, China
Min-Shung Lin, Department of Family Medicine, Cathay General Hospital, Taipei, Taiwan, China
Ching-Shan Huang, Department of Medical Technology, Fooyin University, Kaohsiung, Taiwan, China
Author contributions: All authors contributed equally to the work.
Supported by a grant from the Cathay Medical Research Center, Taipei, Taiwan, China
Correspondence to: Professor Ching-Shan Huang, Department of Medical Technology, Fooyin University, Kaohsiung, Taiwan, China. chsh.huang@msa.hinet.net
Telephone: +886-22-6360450 Fax: +886-28-87725983
Received: January 9, 2005
Revised: April 3, 2005
Accepted: April 9, 2005
Published online: September 28, 2005
Abstract

AIM: To test the hypothesis that the variant UDP-glucuronosyltransferase 1A1 (UGT1A1) gene, glucose-6-phosphate dehydrogenase (G6PD) deficiency, and thalassemia influence bilirubin metabolism and play a role in the development of cholelithiasis.

METHODS: A total of 372 Taiwan Chinese with cholelithiasis who had undergone cholecystectomy and 293 healthy individuals were divided into case and control groups, respectively. PCR and restriction fragment length polymorphism were used to analyze the promoter area and nucleotides 211, 686, 1 091, and 1 456 of the UGT1A1 gene for all subjects and the gene variants for thalassemia and G6PD deficiency.

RESULTS: Variation frequencies for the cholelithiasis patients were 16.1%, 25.8%, 5.4%, and 4.3% for A(TA)6 TAA/A(TA)7TAA (6/7), heterozygosity within the coding region, compound heterozygosity, and homozygosity of the UGT1A1 gene, respectively. Comparing the case and control groups, a statistically significant difference in frequency was demonstrated for the homozygous variation of the UGT1A1 gene (P = 0.012, χ2 test), but not for the other variations. Further, no difference was demonstrated in a between-group comparison of the incidence of G6PD deficiency and thalassemia (2.7% vs 2.4% and 5.1% vs 5.1%, respectively). The bilirubin levels for the cholelithiasis patients with the homozygous variant-UGT1A1 gene were significantly different from the control analog (18.0 ± 6.5 and 12.7 ± 2.9 μmol/L, respectively; P<0.001, Student’s t test).

CONCLUSION: Our results show that the homozygous variation in the UGT1A1 gene is a risk factor for the development of cholelithiasis in Taiwan Chinese.

Keywords: UGT1A1 gene; G6PD deficiency; Thalassemia; Cholelithiasis