Neonatal hyperbilirubinemia and Gly71Arg mutation of UGT1A1 gene: a Chinese case–control study followed by systematic review of existing evidence
Article first published online: 25 FEB 2011
© 2011 The Author(s)/Acta Pædiatrica © 2011 Foundation Acta Pædiatrica
Volume 100, Issue 7, pages 966–971, July 2011
How to Cite
Long, J., Zhang, S., Fang, X., Luo, Y. and Liu, J. (2011), Neonatal hyperbilirubinemia and Gly71Arg mutation of UGT1A1 gene: a Chinese case–control study followed by systematic review of existing evidence. Acta Paediatrica, 100: 966–971. doi: 10.1111/j.1651-2227.2011.02176.x
- Issue published online: 2 JUN 2011
- Article first published online: 25 FEB 2011
- Accepted manuscript online: 27 JAN 2011 01:53PM EST
- Received 13 November 2010; revised 12 January 2011; accepted 19 January 2011.
Vol. 101, Issue 11, 1184, Article first published online: 1 OCT 2012
- Case–control study;
- Genetic polymorphisms;
- Neonatal hyperbilirubinemia;
- UDP-glucuronosyltransferase 1A1
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.