title: Effects of variant UDP-glucuronosyltransferase 1A1 gene, glucose-6-phosphate dehydrogenase deficiency and thalassemia on cholelithiasis.
abstract: OBJECTIVE
  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).
  
  
  CONCLUSIONS
  Our results show that the homozygous variation in the UGT1A1 gene is a risk factor for the development of cholelithiasis in Taiwan Chinese.
authors.affiliation: Department of Laboratory Medicine, Cathay General Hospital, Taipei, Taiwan, China.
authors.forename: Yang-Yang
authors.initials: YY
authors.lastname: Huang
authors.forename: Ching-Shui
authors.initials: CS
authors.lastname: Huang
authors.forename: Sien-Sing
authors.initials: SS
authors.lastname: Yang
authors.forename: Min-Shung
authors.initials: MS
authors.lastname: Lin
authors.forename: May-Jen
authors.initials: MJ
authors.lastname: Huang
authors.forename: Ching-Shan
authors.initials: CS
authors.lastname: Huang
mesh_terms: D000328:Adult; D001663:Bilirubin / Q000378:metabolism; D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D002769:Cholelithiasis / Q000150:complications* / Q000235:genetics* / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications* / Q000378:metabolism*; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D013624:Taiwan; D013789:Thalassemia / Q000150:complications* / Q000378:metabolism*; D000099148:UGT1A1 Enzyme
chemical_list: D001663:Bilirubin; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme