Abstract
Neonatal hyperbilirubinemia, which is prevalent among Asian peoples, has been considered as a physiological phenomenon, and its metabolic basis has not been clearly explained. Gilbert syndrome is a common inherited disease of unconjugated hyperbilirubinemia due to decreased bilirubin uridine diphosphate-glucuronosyltransferase (B-UGT), and its role in neonatal jaundice has recently been considered. We have previously reported that the Gly71Arg mutation of the B-UGT gene associated with Gilbert syndrome is prevalent in Japanese, Korean, and Chinese populations and was more frequently detected in neonates with severe hyperbilirubinemia than in control subjects. We have studied 159 Japanese full-term neonates, evaluating the relationship between the B-UGT genotype and the severity of jaundice, as assessed with a transcutaneous bilirubinometer. The gene frequency of the Gly71Arg mutation in these neonates was 0.19, and neonates carrying the Gly71Arg mutation had significantly increased bilirubin levels on days 2–4, manifested in a gene dose-dependent manner. The frequency of the Gly71Arg mutation was 0.47 in the neonates who required phototherapy (i.e., those with more severe hyperbilirubinemia), significantly higher than 0.16 in the neonates who did not require the therapy. The gene frequency of the TA repeat promoter polymorphism, the (TA)7 mutation, was 0.07, and neonates carrying this mutation did not have an increase in bilirubin. These results suggested that the Gly71Arg mutation contributes to the high incidence of neonatal hyperbilirubinemia in Japanese.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Additional information
Received: June 16, 1998 / Accepted: August 5, 1998
Rights and permissions
About this article
Cite this article
Akaba, K., Kimura, T., Sasaki, A. et al. Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese. J Hum Genet 44, 22–25 (1999). https://doi.org/10.1007/s100380050100
Published:
Issue Date:
DOI: https://doi.org/10.1007/s100380050100
This article is cited by
-
Impact of single-heterozygous UGT1A1 on the clinical outcomes of irinotecan monotherapy after fluoropyrimidine and platinum-based combination therapy for gastric cancer: a multicenter retrospective study
International Journal of Clinical Oncology (2020)
-
High resolution melting curve analysis enables rapid and reliable detection of G6PD variants in heterozygous females
BMC Genetics (2018)
-
Inherited disorders of bilirubin clearance
Pediatric Research (2016)
-
Association of neonatal hyperbilirubinemia in breast-fed infants with UGT1A1 or SLCOs polymorphisms
Journal of Human Genetics (2015)
-
Development of icterus gravis in a preterm infant with G71R UGT1A1 polymorphism
BMC Research Notes (2013)