Risk assessment of gene variants for neonatal hyperbilirubinemia in Taiwan

Yi Hao Weng, Ya Wen Chiu, Shao Wen Cheng, Chun Yuh Yang

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23 Citations (Scopus)


Background: Hyperbilirubinemia is a common disorder during neonatal period in Taiwan. Gene variants may play an important role in the development of neonatal hyperbilirubinemia. The current study investigated the association between neonatal hyperbilirubinemia and common gene variants involving the production and metabolism of bilirubin. Methods: This prospective study enrolled 444 healthy infants born in the Chang Gung Memorial Hospital at Taipei from 2013-2015. Hyperbilirubinemia was defined as a total bilirubin = 15 mg/dL. A log-binomial model was used to assess the risk of gene variants. Results: The most common genetic variant was short heme oxygenase (HO)-1 promoter GT-allele (<24 repeats) (39.4 %), followed by GA at nt388 in hepatic solute carrier organic anion transporter 1B1 (SLCO1B1) (31.1 %), GA at nt211 in UDP-glucuronosyltransferase 1A1 (UGT1A1) (29.3 %), ABO incompatibility (16.2 %), alpha thalassemia (5.0 %), and G6PD deficiency (3.2 %). The log-binomial analysis demonstrated greater risks of hyperbilirubinemia in infants with GA at nt211 in UGT1A1 (RR = 1.548; 95 % CI = 1.096-2.187), short HO-1 promoter GT-repeat (RR = 2. 185; 95 % CI = 1.527-3.125), and G6PD deficiency (RR = 1.985; 95 % CI = 1.010-3.901). The other gene variants - including blood type, alpha thalassemia, and SLCO1B1 - carried no significant risk. Conclusions: G6PD deficiency, short HO-1 promoter GT-repeat and GA at nt211 in UGT1A1 are risk factors of neonatal hyperbilirubinemia. The data provide clinical evidence to explain the high incidence of neonatal hyperbilirubinemia in Taiwan.

Original languageEnglish
Article number144
JournalBMC Pediatrics
Issue number1
Publication statusPublished - 2016


  • Heme oxygenase-1
  • Hepatic solute carrier organic anion transporter 1B1
  • Neonatal hyperbilirubinemia
  • Thalassemia
  • UDP-glucuronosyltransferase 1A1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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