Neonatal hyperbilirubinemia and Gly71Arg mutation of UGT1A1 gene: a Chinese case-control study followed by systematic review of existing evidence

Acta Paediatr. 2011 Jul;100(7):966-71. doi: 10.1111/j.1651-2227.2011.02176.x. Epub 2011 Feb 25.


Aim: To determine whether the UDP-glucuronosyltransferase 1A1 gene (UGT1A1) Gly71Arg (211G>A) mutation is associated with neonatal hyperbilirubinemia.

Methods: The study consisted of two parts. The case-control study included 112 hyperbilirubinemic infants and 105 control subjects from the Fifth People's Hospital of Shenzhen. Polymerase chain reaction, restriction fragment length polymorphisms and agarose gel electrophoresis techniques were used to detect the UGT1A1 211G>A mutation. Meta-analyses was performed to assess the association between neonatal hyperbilirubinemia and UGT1A1 211G>A.

Results: Our case-control study revealed that the likelihood of developing neonatal hyperbilirubinemia was 2.65 times higher in the infants with the A allele in the UGT1A1 211G>A than in the infants with the G allele (95% CI, 1.60-4.39). Meta-analyses (including data from our study) revealed that UGT1A1 211G>A is associated with an increased risk of neonatal hyperbilirubinemia [odds ratio (OR), 2.37; 95% CI, 2.05-2.74]. In the subgroup analyses based on ethnicity, significantly elevated risks were found in Asian populations (OR, 2.45; 95% CI, 2.10-2.84), but no significant associations were present in Caucasian populations (OR, 1.54; 95% CI, 0.87-2.75).

Conclusion: The UGT1A1 211G>A mutation is associated with neonatal hyperbilirubinemia in Asians, but not in Caucasians.

Publication types

  • Meta-Analysis
  • Review
  • Systematic Review

MeSH terms

  • Asian Continental Ancestry Group / genetics*
  • Case-Control Studies
  • European Continental Ancestry Group / genetics
  • Female
  • Genetic Predisposition to Disease / ethnology
  • Genetic Predisposition to Disease / genetics*
  • Glucuronosyltransferase / genetics*
  • Humans
  • Hyperbilirubinemia, Neonatal / ethnology
  • Hyperbilirubinemia, Neonatal / genetics*
  • Infant, Newborn
  • Male
  • Mutation / genetics*
  • Risk Factors


  • UGT1A1 enzyme
  • Glucuronosyltransferase