Severe neonatal hyperbilirubinemia and UGT1A1 promoter polymorphism.
作者： Laura Travan , Sara Lega , Sergio Crovella , Marcella Montico , Elisa Panontin
DOI: 10.1016/J.JPEDS.2014.03.013
关键词: Promoter polymorphism 、 Polymorphism (computer science) 、 Medicine 、 Statistical difference 、 Population study 、 Hemolysis 、 Gilbert Disease 、 Pediatrics 、 Gilbert Syndrome 、 Internal medicine 、 Bilirubin levels 、 Gastroenterology
摘要: Objective To assess whether UGT1A1 promoter polymorphisms associated with Gilbert Syndrome (GS) occur a greater frequency in neonates severe hyperbilirubinemia. Study design In case-control study performed at single hospital center Italy, 70 case subjects hyperbilirubinemia (defined as bilirubin level ≥20 mg/dL or 340 μmol/L) and controls (bilirubin Results No statistical difference the prevalence of UGTA1A1 gene variants was found between cases ( P = 1). Thirteen infants homozygous for (TA)7 polymorphism GS were group (18.6%) 14 control (20.0%). A heterozygous also equally distributed (44.3%) (42.9%). (TA)8 repeat 2 groups. Conclusions our population, alone does not appear to play major role neonatal without signs hemolysis.
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