Travan Laura, Lega Sara, Crovella Sergio, Montico Marcella, Panontin Elisa, Demarini Sergio
Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
University of Trieste, Trieste, Italy.
J Pediatr. 2014 Jul;165(1):42-5. doi: 10.1016/j.jpeds.2014.03.013. Epub 2014 Apr 14.
To assess whether UGT1A1 promoter polymorphisms associated with Gilbert Syndrome (GS) occur with a greater frequency in neonates with severe hyperbilirubinemia.
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.
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.
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.
评估与吉尔伯特综合征（GS）相关的UGT1A1启动子多态性在重度高胆红素血症新生儿中出现的频率是否更高。
在意大利一家单一医院中心进行的一项病例对照研究中，纳入了70例重度高胆红素血症病例（定义为胆红素水平≥20mg/dL或340μmol/L）和70例对照（胆红素水平<12mg/dL或210μmol/L）。病例组和对照组均为足月新生儿。对血斑进行聚合酶链反应分析，以确定病例组和对照组中UGTA1A1启动子多态性的频率。
病例组和对照组之间UGTA1A1基因变异的患病率无统计学差异（P = 1）。病例组中有13例婴儿为与GS相关的（TA）7多态性纯合子（18.6%），对照组中有14例（20.0%）。杂合子组在病例组（44.3%）和对照组（42.9%）之间分布也相等。两组中均未发现（TA）8重复。
在我们的研究人群中，单独的GS多态性似乎在无溶血迹象的新生儿重度高胆红素血症中不起主要作用。
