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Open Access 01-12-2021 | Research article

UGT1A1 mutation association with increased bilirubin levels and severity of unconjugated hyperbilirubinemia in ABO incompatible newborns of China

Authors: Hui Yang, Fen Lin, Zi-kai Chen, Lin Zhang, Jia-Xin Xu, Yong-Hao Wu, Jing-Ying Gu, Yu-Bin Ma, Jian-Dong Li, Li-Ye Yang

Published in: BMC Pediatrics | Issue 1/2021

Abstract

Background

Neonatal hyperbilirubinemia causing jaundice is common in East Asian population. Uridine diphosphate glucuronosyltransferase isoenzyme (UGT1A1) glucuronidates bilirubin and converts the toxic form of bilirubin to its nontoxic form.

Method

A retrospective study was conducted to review clinical information of ABO hemolysis neonates (ABO HDN) admitted to the Department of Neonatology, referred for neonatal hyperbilirubinemia, in a large general hospital of southern China from 2011 to 2017. Variation status of UGT1A1 was determined by direct sequencing or genotype assays.

Result

Sixty-nine ABO HDNs were included into the final analysis. UGT1A1 c.211 G > A mutation (UGT1A1*6, p.Arg71Gly, rs4148323) was significantly associated with the increased bilirubin level in ABO HDNs, after adjusted by age, sex and feeding method (P = 0.019 for TBIL, P = 0.02 for IBIL). Moreover, heterozygous and/or homozygous UGT1A1 mutations in the coding sequence region were significantly associated with the increased risk of developing hazardous hyperbilirubinemia (as defined by TSB > 427 umol/L) as compared those with a normal UGT1A1 genotype (OR_adj = 9.16, 95%CI 1.99–42.08, P = 0.002) in the study cohort.

Conclusion

UGT1A1 variant in coding region is actively involved in the pathogenesis of ABO hemolysis related neonatal hyperbilirubinemia. Genetic assessment of UGT1A1 may be useful for clinical diagnosis of neonatal unconjugated hyperbilirubinemia.

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Title: UGT1A1 mutation association with increased bilirubin levels and severity of unconjugated hyperbilirubinemia in ABO incompatible newborns of China
Authors: Hui Yang
Fen Lin
Zi-kai Chen
Lin Zhang
Jia-Xin Xu
Yong-Hao Wu
Jing-Ying Gu
Yu-Bin Ma
Jian-Dong Li
Li-Ye Yang
Publication date: 01-12-2021
Publisher: BioMed Central
Published in: BMC Pediatrics / Issue 1/2021
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-021-02726-9

Keynote webinar | Spotlight on medication adherence

Springer Medicine

UGT1A1 mutation association with increased bilirubin levels and severity of unconjugated hyperbilirubinemia in ABO incompatible newborns of China

Abstract

Background

Method

Result

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Method

Result

Conclusion

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