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 mmol/L) and 70 controls (bilirubin level <12 mg/dL or
210 mmol/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 groups 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.
