Association of neonatal hyperbilirubinemia with bilirubin UDP- glucuronosyltransferase polymorphism

Pediatrics

Volumn 103, Issue 6 I, 1999, Pages 1224-1227

  Maruo, Yoshihiro ^a   Nishizawa, Kashiro ^b   Sato, Hiroshi ^a   Doida, Yukio ^a   Shimada, Morimi ^a  

^a SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^b Ohmihachiman Municipal Hospital   (Japan)

Author keywords

Bilirubin UDP glucuronosyltransferase; Gilbert's syndrome; Neonatal hyperbilirubinemia; Polymorphism; UGT1A1

Indexed keywords

BILIRUBIN DERIVATIVE; GLUCURONOSYLTRANSFERASE;

ALLELE; ARTICLE; BILIRUBIN BLOOD LEVEL; BILIRUBIN METABOLISM; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; ENZYME ACTIVITY; FEMALE; GENE FREQUENCY; GENETIC ANALYSIS; HETEROZYGOSITY; HIGH RISK POPULATION; HUMAN; INCIDENCE; MALE; MISSENSE MUTATION; NEWBORN; NEWBORN JAUNDICE; PRIORITY JOURNAL; RISK FACTOR;

ALLELES; CODON; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENOTYPE; GILBERT DISEASE; GLUCURONOSYLTRANSFERASE; HUMANS; HYPERBILIRUBINEMIA; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; PHOTOTHERAPY; POINT MUTATION; POLYMORPHISM, GENETIC; RETROSPECTIVE STUDIES; VARIATION (GENETICS);

EID: 0033001454     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: 10.1542/peds.103.6.1224     Document Type: Article

References (18)

1. Maisels MJ. Jaundice. In: Avery GB, Fletcher MA, MacDonald MG, eds. Neonatology. 4th ed. Philadelphia, PA: Lippincott; 1994:630-725
2. Newman MD, Easterling MJ, Goldman ES, Stevenson DK. Laboratory evaluation of jaundice in newborn. Am J Dis Child. 1990;144:364-365
3. Stevenson DK, Verman HJ, Fischer AF, Uetani Y, Nakamura H. Comparison of bilirubin production in Japanese and Caucasian infants. Pediatr Res. 1987;21:377A
4. Ritter JK, Crawford JM, Owens IS. Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells. J Biol Chem. 1991;266:1043-1047
5. Adachi Y, Kamisako T, Koiwai O, Yamamoto K, Sato H. Genetic background of constitutional unconjugated hyperbilirubinemia. Int Hepatol Commun. 1996;5:297-307
6. Aono S, Yamada Y, Keino Y, et al. A new type of defect in the gene for bilirubin uridine 5′-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I. Pediatr Res. 1994;35:629-632
7. Monaghan G, Ryan M, Seddon R, Hume R, Burchell B. Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet. 1996;347:578-581
8. Yamada Y, Goto H, Suzumori K, Adachi R, Ogasawara N. Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency. Hum Genet. 1992;90:379-384
9. Yamauchi Y, Yamanouchi Y. Transcutaneous bilirubinometry in neonatal Japanese infants. Acta Pediatr Jpn. 1989;31:65-71
10. Bosma PJ, Roy Chowdhury J, Bakker C, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med. 1995;333:1171-1175
11. Onishi S, Kawade N, Itoh S, Isobe K, Sugiyama S. Postnatal development of uridine diphosphate glucuronosyl transferase activity toward bilirubin and o-aminophenol in human liver. Biochem J. 1979;194:705-707
12. Bartoletti AL, Stevenson DK, Ostrander CR, Johnson JD. Pulmonary excretion of carbon monoxide in the human infant as an index of bilirubin production. 1. Effects of gestational and postnatal age and some common neonate abnormalities. J Pediatr. 1979;94:952-955
13. Yamamoto K, Sato H, Fujiyama Y, Doida Y, Bamba T. Contribution of two missense mutations (G71R and Y486D) of the UGT1A1 gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II. Biochim Biophys Acta. 1998;1406:267-273
14. Sato H, Adachi Y, Koiwai O. The genetic basis of Gilbert's syndrome. Lancet. 1996;347:557-558
15. Soeda Y, Yamamoto K, Adachi Y, et al. Predicted homozygous missense mutation in Gilbert's syndrome. Lancet. 1995;346:1494
16. Doyama H, Okada T, Kobayashi T, et al. Genetic analysis of Gilbert's syndrome in the Japanese population. Gastroenterology. 1997;112:A1258
17. Ueyama H, Koiwai O, Soeda Y, et al. Analysis of the promoter of human bilirubin UDP-glucuronosyltransferase gene (UGT1*1) in relevance to Gilbert's syndrome. Hepatol Res. 1997;9:152-163
18. Bancroft JD, Kreamer B, Gourley GR. Gilbert's syndrome accelerates development of neonatal jaundice. J Pediatr. 1998;132:656-660