Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate‐glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese

  title={Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate‐glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese},
  author={Kazuhiro Akaba and T. Kimura and Ayako Sasaki and Saori Tanabe and Tohru Ikegami and M Hashimoto and Hideyuki Umeda and H Yoshida and Kazuo Umetsu and Hitochi Chiba and Isao Yuasa and Kiyoshi Hayasaka},
  journal={IUBMB Life},
We analyzed the bilirubin uridine diphosphate‐glucuronosyltransferase (B‐UGT) gene in 42 Japanese newborns with hyperbilirubinemia and determined that 21 infants were heterozygous while 3 was homozygous for Gly71Arg. Allele frequency of Gly71Arg was 0.32 in newborns with hyperbilirubinemia, which was significantly higher than 0.13 in healthy Japanese controls. This mutant allele is also prevalent among Korean and Chinese healthy controls with a frequency of 0.23 in both populations. However… Expand
Neonatal hyperbilirubinemia and the bilirubin uridine diphosphate‐glucuronosyltransferase gene: The common −3263T > G mutation of phenobarbital response enhancer module is not associated with the neonatal hyperbilirubinemia in Japanese
The gene frequency of the −3263T > G mutation was determined and the relation with neonatal hyperbilirubinemia in Japanese was studied. Expand
Genetic polymorphisms of bilirubin uridine diphosphate‐glucuronosyltransferase gene in Japanese patients with Crigler–Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects
The presence of UGT1A1 mutation was investigated in a group of Japanese patients with Crigler–Najjar syndrome type 2 (CNS2) and Gilbert's syndrome, as well as in healthy anicteric subjects. Expand
Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese
Evaluating the relationship between the B-UGT genotype and the severity of jaundice in Japanese full-term neonates suggested that the Gly71Arg mutation contributes to the high incidence of neonatal hyperbilirubinemia in Japanese. Expand
Analysis of uridine diphosphate glucuronosyl transferase 1A1 gene mutations in neonates with unconjugated hyperbilirubinemia.
The results reveal that the UGT1A1 mutant genotype is distributed differently in the case vs control groups, as well as in the Zhuang vs Han ethnic groups, and suggest that the 211G>A mutation in the first exon may be a risk factor for unconjugated hyperbilirubinemia in Zhuang and Han neonates. Expand
Gly71Arg mutation of the bilirubin UDP-glucuronosyltransferase 1A1 gene is associated with neonatal hyperbilirubinemia in the Japanese population.
The genotypic distribution of the G71R mutation was present significantly more frequently in the hyperbilirubinemia group than in the non-hyperbilirubsia group, and this finding strongly suggests that the presence of this mutation contributes to the development of neonatal hyperbilIRubinemi in the Japanese population. Expand
Neonatal hyperbilirubinemia and G71R mutation of the UGT1A1 gene in Turkish patients
  • F. Narter, G. Can, A. Ergen, T. İsbir, Z. Ince, A. Coban
  • Medicine
  • The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
  • 2011
The results suggest that G 71R mutation of UGT1A1 is not rare; however, an association between G71R mutation and hyperbilirubinemia of unexplained cause has not been shown in Turkish newborns. Expand
1828G>A polymorphism of the UDP-glucuronosyltransferase gene (UGT1A1) for neonatal hyperbilirubinemia in Koreans
The results indicated that the 1828G>A polymorphism of the UGT1A1 gene is not associated with the prevalence of hyperbilirubinemia in Koreans. Expand
Neonatal Hyperbilirubinemia in Japanese Neonates: Analysis of the Heme Oxygenase-1 Gene and Fetal Hemoglobin Composition in Cord Blood
Two notable factors associated with bilirubin production, heme oxygenase-1, a key enzyme of heme metabolism, and fetal Hb composition, a factor possibly associated with heme load in neonates are studied to elucidate the genetic factors causing severe hyperbilirubinemia in Japanese infants. Expand
Prevalence of uridine glucuronosyl transferase 1A1 (UGT1A1) mutations in Malay neonates with severe jaundice.
A number of genetic risk factors have been implicated in the development of neonatal severe hyperbilirubinaemia. This includes mutations in the uridine glucoronosyl transferase 1A1 (UGT1A1) geneExpand
Relation of Uridine Diphosphate Glucuronosyltransferase 1A1 Promoter Gene Polymorphism (211G>A) With Risk of Hyperbilirubinemia in Neonates
The findings added to the understanding of the significance of UGT1A1 in association with neonatal hyperbilirubinemia in East Delta of Egyptian population. Expand


Behrman's Neonatal-perinatal medicine: Diseases of the fetus and infant
The field of neonatal-perinatal medicine the foetus pregnancy disorders and their impact on the foetus the delivery room provisions for neonatal care development and disorders of organ systems.