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UGT1A1*6 mutation associated with the occurrence and severity in infants with prolonged jaundice

Zhe Yang1, Fen Lin2, Jia-Xin Xu2

  • 1Department of Pediatrics, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, China.

Frontiers in Pediatrics
|January 6, 2023
PubMed

Insights

The UGT1A1*6 gene variant is a significant risk factor for prolonged jaundice in exclusively breastfed Chinese infants. This genetic factor predicts severe cases of infant jaundice.

Area of Science:

  • Genetics
  • Neonatology
  • Pediatrics

Background:

  • Prolonged jaundice is a common concern in newborns.
  • The UGT1A1 gene plays a crucial role in bilirubin metabolism.
  • Genetic variations may influence jaundice severity in infants.

Purpose of the Study:

  • To investigate the association between UGT1A1 gene variants and prolonged jaundice in Chinese term infants.
  • To determine if UGT1A1*6 influences the occurrence and severity of prolonged jaundice.
  • To identify risk factors for prolonged and severe jaundice in this population.

Main Methods:

  • A retrospective case-control study involving 175 infants with prolonged jaundice and 149 controls.
  • Analysis of UGT1A1 and G6PD gene frequencies and genotypes.
  • Comparison of clinical parameters including feeding mode and jaundice severity (TSB levels).

Main Results:

  • Higher allele and genotype frequencies of UGT1A1*6 were observed in infants with prolonged jaundice compared to controls.
  • UGT1A1*6 was more prevalent in severe jaundice cases than mild-medium cases.
  • Exclusive breastfeeding and UGT1A1*6 (homozygous/heterozygous) were significant risk indicators for prolonged jaundice.

Conclusions:

  • The UGT1A1*6 variant is a risk factor for prolonged jaundice in exclusively breastfed Chinese term infants.
  • UGT1A1*6 is a key predictor of severe prolonged jaundice.
  • Genetic screening for UGT1A1*6 may aid in identifying at-risk infants.
Abstract

Keywords:
G6PD deficiencyUGT1A1breast feedingneonatal hyperbilirubinemiaprolonged jaundice

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