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Association of UGT1A1 variants and hyperbilirubinemia in breast-fed full-term Chinese infants

Youyou Zhou1, San-nan Wang2, Hong Li3

  • 1Institutes of Biomedical Sciences, State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.

Plos One
|August 8, 2014
PubMed

Insights

Genetic variants in Uridine Diphosphate Glucuronosyl Transferase 1A1 (UGT1A1) are linked to neonatal hyperbilirubinemia in breast-fed infants. Specific UGT1A1 variants influence bilirubin levels, while Heme Oxygenase-1 (HMOX1) showed no association.

Area of Science:

  • Genetics
  • Neonatology
  • Biochemistry

Background:

  • Neonatal hyperbilirubinemia is a common condition in newborns.
  • Genetic factors, including variants in UGT1A1 and HMOX1 genes, are implicated in bilirubin metabolism.
  • Understanding these genetic associations can aid in predicting and managing hyperbilirubinemia.

Purpose of the Study:

  • To investigate the association between genetic variants in UGT1A1 and HMOX1 and the risk of neonatal hyperbilirubinemia in breast-fed infants.
  • To identify specific genetic markers that may predict higher or lower bilirubin levels.

Main Methods:

  • A retrospective case-control study was conducted.
  • 170 hyperbilirubinemic newborns and 779 controls were genotyped for eight UGT1A1 and three HMOX1 variants.
  • Statistical analyses, including False Discovery Rate (FDR) correction, were applied to assess associations.

Main Results:

  • Five significant associations were found with UGT1A1 variants and breast-fed hyperbilirubinemia.
  • rs887829 and (TA)n repeat variants in UGT1A1 showed a protective effect, associated with lower peak bilirubin.
  • rs4148323 variant in UGT1A1 was associated with significantly higher peak bilirubin.
  • No significant associations were identified for HMOX1 variants.

Conclusions:

  • UGT1A1 gene variants play a significant role in neonatal hyperbilirubinemia among East Asian breast-fed infants.
  • Specific UGT1A1 variants, rs887829 and (TA)n repeat, may offer protection against high bilirubin levels.
  • Further research is needed to elucidate the precise mechanisms underlying these protective genetic effects.

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