Effects of variant UDP-glucuronosyltransferase 1A1 gene, glucose-6-phosphate dehydrogenase deficiency and thalassemia on cholelithiasis

作     者：Yang-Yang Huang Ching-Shui Huang Sien-Sing Yang Min-Shung Lin May-Jen Huang Ching-Shan Huang 

作者机构：Department of LaboratoryMedicine Cathay General Hospital Taipei Taiwan China Department of General Surgery Cathay GeneralHospital Taipei Taiwan China Department of Liver Unit Cathay GeneralHospital Taipei Taiwan China Department of Family Medicine Cathay General Hospital Taipei Taiwan China Department of Medical Technology FooyinUniversity Kaohsiung Taiwan China 

出 版 物：《World Journal of Gastroenterology》 (世界胃肠病学杂志（英文版）)

年 卷 期：2005年第11卷第36期

页      面：5710-5713页

核心收录：

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

基　　金：Supported by a grant from the Cathay Medical Research Center  Taipei  Taiwan  China 

主　　题：UGT1A1 gene, G6PD deficiency Thalassemia Cholelithiasis 

摘      要：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）TTAA （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, Z2 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 ttest）.CONCLUSION： Our results show that the homozygous variation in the UGT1A1 gene is a risk factor for the development of cholelithiasis in Taiwan Chinese. 2005 The WJG Press and Elsevier Inc. All rights reserved