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Bilirubin uridine diphosphate-glucuronosyltransferase polymorphism as a risk factor for prolonged hyperbilirubinemia in Japanese preterm infants

The Journal of Pediatrics Sep 09, 2017

Yanagi T, et al. – The researchers performed this study to determine whether a variant of the bilirubin uridine diphosphate-glucuronosyltransferase gene (UGT1A1*6) was a risk factor for prolonged hyperbilirubinemia in preterm infants. They discovered that UGT1A1*6 was a risk factor for prolonged unconjugated hyperbilirubinemia in preterm infants in Japan. However, further research was required to evaluate a definitive conclusion.

Methods

  • With the aid of polymerase chain reaction-direct sequencing, UGT1A1 genotypes in 46 Japanese preterm infants (<37 weeks of gestation) were compared with UGT1A1genotypes in 38 control infants.
  • Prolonged unconjugated hyperbilirubinemia was defined as serum total bilirubin concentration of >150 µmol/L (8.77 mg/dL) beyond 14 days of life.

Results

  • In the case group, 41 out of 46 infants (89.1%) had a polymorphic variant, c.211G>A, p.G71R (UGT1A1*6).
  • In the control group, 7 of 38 (18.4%) had UGT1A1*6.
  • In the prolonged hyperbilirubinemia group, the allele frequency of UGT1A1*6 was 0.641, which was significantly higher than in the control group (0.092; P < .001).
  • In total, 39 of 46 infants in the case group were breast fed, and only 10 infants in the control group were breast fed.

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