Gly71Arg mutation of the bilirubin UDP-glucuronosyltransferase 1A1 gene is associated with neonatal hyperbilirubinemia in the Japanese population
Yamamoto, A.; Nishio, H.; Waku, S.; Yokoyama, N.; Yonetani, M.; Uetani, Y.; Nakamura, H.
Kobe Journal of Medical Sciences 48(3-4): 73-77
2002
ISSN/ISBN: 0023-2513 PMID: 12502904 Document Number: 545309
The serum bilirubin level of Japanese neonates in their first few days is significantly higher than that in Caucasian neonates, suggesting that there might be genetic risk factors for the development of neonatal hyperbilirubinaemia in the Japanese population. Recently, it has been reported that a variant TATA box in the promoter region of the bilirubin UDP-glucuronosyltransferase 1 (UGT1A1) gene is associated with the development of neonatal hyperbilirubinaemia. This finding led us to the idea that a mutation, glycine to arginine at codon 71 (G71R), in the coding region of the UGT1A1 gene can cause neonatal hyperbilirubinaemia. In this study, we determined the genotypic distribution of the G71R mutation in 72 Japanese neonates: 23 infants with hyperbilirubinaemia and 49 infants without hyperbilirubinaemia . In the hyperbilirubinaemia group, 15 of 23 neonates had the G71R mutation (3 homozygotes and 12 heterozygotes); whereas in the non-hyperbilirubinaemia group, 16 of 49 neonates had the G71R mutation (1 homozygote and 15 heterozygotes). Therefore, the G71R mutation was present significantly more frequently in the hyperbilirubinaemia group than in the non-hyperbilirubinaemia group. This finding strongly suggests that the presence of the G71R mutation contributes to the development of neonatal hyperbilirubinaemia in the Japanese population.