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Bilirubin Uridine Diphosphate-glucuronosyltransferase Polymorphism as a Risk Factor for Prolonged Hyperbilirubinemia

Takahide Yanagi1, Sayuri Nakahara1, Yoshihiro Maruo1

  • 1Department of Pediatrics, Shiga University of Medical Science, Otsu, Shiga, Japan.

The Journal of Pediatrics
|September 11, 2017
PubMed

Insights

The UGT1A1*6 gene variant is a significant risk factor for prolonged hyperbilirubinemia in Japanese preterm infants. Further research is needed to confirm these findings, considering breastfeeding differences.

Area of Science:

  • Neonatal Medicine
  • Genetics
  • Pediatrics

Background:

  • Prolonged hyperbilirubinemia is a common concern in preterm infants.
  • The uridine diphosphate-glucuronosyltransferase 1A1 (UGT1A1) gene plays a crucial role in bilirubin metabolism.
  • Genetic variations in UGT1A1 may influence bilirubin levels in neonates.

Purpose of the Study:

  • To investigate the association between the UGT1A1*6 gene variant and prolonged unconjugated hyperbilirubinemia in preterm infants.
  • To determine if UGT1A1*6 acts as a risk factor for this condition in a Japanese population.

Main Methods:

  • Genotyping of the UGT1A1 gene was performed using polymerase chain reaction-direct sequencing.
  • UGT1A1 genotypes of 46 Japanese preterm infants with prolonged hyperbilirubinemia were compared to 38 control infants.
  • Prolonged unconjugated hyperbilirubinemia was defined as serum total bilirubin >150 µmol/L beyond 14 days of life.

Main Results:

  • The UGT1A1*6 variant (c.211G>A, p.G71R) was present in 89.1% of infants with prolonged hyperbilirubinemia versus 18.4% of controls.
  • The allele frequency of UGT1A1*6 was significantly higher in the case group (0.641) compared to the control group (0.092; P < .001).
  • Breastfeeding rates differed between groups, with 89.1% of cases and 26.3% of controls being breastfed.

Conclusions:

  • The UGT1A1*6 variant is strongly associated with prolonged unconjugated hyperbilirubinemia in Japanese preterm infants.
  • UGT1A1*6 is suggested to be a risk factor for this condition.
  • Further studies are required to confirm these findings, accounting for potential confounding factors like breastfeeding.
Abstract

Keywords:
UGT1A1jaundiceneonatal hyperbilirubinemiap.G71Rpremature baby

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