title: Glucose-6-phosphate dehydrogenase deficiency, the UDP-glucuronosyl transferase 1A1 gene, and neonatal hyperbilirubinemia.
abstract: OBJECTIVE
  Coinheritance of the A(TA)7TAA promoter variant in the uridine 5'-diphosphate-glucuronosyl transferase 1A1 (UGT1A1) gene and glucose-6-phosphate dehydrogenase (G6PD) deficiency is crucial to hyperbilirubinemia in white male neonates. A variation rate of 29.3% was determined within the coding region of the UGT1A1 gene in Taiwanese subjects, suggesting the hypothesis that this variation may influence incidence of hyperbilirubinemia in male neonates with G6PD deficiency.
  
  
  METHODS
  The full sequence of the UGT1A1 gene was identified for 212 G6PD-deficient and 232 control male neonates by using polymerase chain reaction (PCR).
  
  
  RESULTS
  Both study and control groups were divided into 5 subgroups according to their UGT1A1 genotypes. Most subjects carried G to A variation at nucleotide 211 for both genotypes of heterozygous variation within coding region and homozygous variation. No significant differences were noted for the frequencies of the 5 UGT1A1 genotypes, gestation age, and birth weight comparing the G6PD-deficient and control groups. The incidence of hyperbilirubinemia, however, was significantly higher for the study group than for the controls. This difference was noted only for the subgroup bearing the homozygous variant of the UGT1A1 gene. In the subgroup of homozygous variation, the serum bilirubin value was significantly higher for G6PD-deficient neonates than for controls. All 11 G6PD-deficient neonates with the homozygous 211 G to A variation suffered from hyperbilirubinemia.
  
  
  CONCLUSIONS
  The results indicate that carriage of the homozygous 211 G to A variation within the coding region in the UGT1A1 gene is an additive risk factor for neonatal hyperbilirubinemia in G6PD-deficient Taiwanese male neonates.
authors.affiliation: Department of Laboratory Medicine, Cathay General Hospital, Taipei, Taiwan. pcsh@ms1.cgh.org
authors.forename: Ching-Shan
authors.initials: CS
authors.lastname: Huang
authors.forename: Pi-Feng
authors.initials: PF
authors.lastname: Chang
authors.forename: May-Jen
authors.initials: MJ
authors.lastname: Huang
authors.forename: En-Sung
authors.initials: ES
authors.lastname: Chen
authors.forename: Wu-Charng
authors.initials: WC
authors.lastname: Chen
mesh_terms: D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics / Q000378:metabolism*; D014453:Glucuronosyltransferase / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000201:enzymology* / Q000235:genetics*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D009154:Mutation; D012016:Reference Values; D000099148:UGT1A1 Enzyme
chemical_list: D005954:Glucosephosphate Dehydrogenase; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme