变异型尿苷二磷酸葡萄糖醛酸基转移酶1A1基因、葡萄糖-6-磷酸脱氢酶缺乏症和地中海贫血对胆结石的影响。

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

作者信息

Huang Yang-Yang, Huang Ching-Shui, Yang Sien-Sing, Lin Min-Shung, Huang May-Jen, Huang Ching-Shan

机构信息

Department of Laboratory Medicine, Cathay General Hospital, Taipei, Taiwan, China.

出版信息

World J Gastroenterol. 2005 Sep 28;11(36):5710-3. doi: 10.3748/wjg.v11.i36.5710.

DOI:10.3748/wjg.v11.i36.5710

PMID:16237771

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4481494/

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)(7)TAA (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, chi(2) 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 micromol/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.

摘要

目的

检验变异型尿苷二磷酸葡萄糖醛酸基转移酶1A1（UGT1A1）基因、葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症和地中海贫血影响胆红素代谢并在胆结石形成中起作用这一假说。

方法

总共372例接受胆囊切除术的台湾胆结石患者和293例健康个体分别分为病例组和对照组。采用聚合酶链反应（PCR）和限制性片段长度多态性分析所有受试者UGT1A1基因的启动子区域以及第211、686、1091和1456位核苷酸，以及地中海贫血和G6PD缺乏症的基因变异情况。

结果

胆结石患者中，UGT1A1基因的A(TA)(6)TAA/A(TA)(7)TAA（6/7）、编码区内杂合性、复合杂合性和纯合性的变异频率分别为16.1%、25.8%、5.4%和4.3%。病例组与对照组比较，UGT1A1基因纯合变异的频率差异具有统计学意义（P = 0.012，卡方检验），但其他变异无此差异。此外，G6PD缺乏症和地中海贫血的发病率在组间比较中无差异（分别为2.7%对2.4%和5.1%对5.1%）。携带UGT1A1基因纯合变异的胆结石患者的胆红素水平与对照组相比有显著差异（分别为18.0±6.5和12.7±2.9微摩尔/升；P<0.001，学生t检验）。