Severe neonatal hyperbilirubinemia and UGT1A1 promoter polymorphism

J Pediatr. 2014 Jul;165(1):42-5. doi: 10.1016/j.jpeds.2014.03.013. Epub 2014 Apr 14.


Objective: To assess whether UGT1A1 promoter polymorphisms associated with Gilbert Syndrome (GS) occur with a greater frequency in neonates with severe hyperbilirubinemia.

Study design: In a case-control study performed at a single hospital center in Italy, 70 case subjects with severe hyperbilirubinemia (defined as bilirubin level ≥20 mg/dL or 340 μmol/L) and 70 controls (bilirubin level <12 mg/dL or 210 μmol/L) were enrolled. Both case and control subjects were full term newborns. Polymerase chain reaction analysis on blood spot was performed to determine the frequency of UGTA1A1 promoter polymorphisms in cases and controls.

Results: No statistical difference in the prevalence of UGTA1A1 gene variants was found between cases and controls (P = 1). Thirteen infants homozygous for (TA)7 polymorphism associated with GS were in the case group (18.6%) and 14 in the control group (20.0%). A heterozygous group was also equally distributed between cases (44.3%) and controls (42.9%). No (TA)8 repeat was found in the 2 groups.

Conclusions: In our study population, GS polymorphism alone does not appear to play a major role in severe neonatal hyperbilirubinemia in neonates without signs of hemolysis.

MeSH terms

  • Case-Control Studies
  • Female
  • Genotype
  • Gilbert Disease / genetics*
  • Glucuronosyltransferase / genetics*
  • Humans
  • Hyperbilirubinemia, Neonatal / genetics*
  • Infant, Newborn
  • Male
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Prevalence
  • Promoter Regions, Genetic*


  • UGT1A1 enzyme
  • Glucuronosyltransferase