Relationship between bilirubin UDP-glucuronosyl transferase 1A1 gene and neonatal hyperbilirubinemia

Pediatric Research

Volumn 52, Issue 4, 2002, Pages 601-605

  Huang, Ching Shan ^a   Chang, Pi Feng ^a   Huang, May Jen ^a   Chen, En Sung ^a   Hung, Kun Long ^a   Tsou, Kuo Inn ^a  

^a CATHAY GENERAL HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN;

ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE EXPRESSION; GENETIC RISK; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; INTRON; MAJOR CLINICAL STUDY; MALE; NEWBORN; NEWBORN JAUNDICE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; RISK FACTOR; SEQUENCE ANALYSIS; TAIWAN;

EID: 0036787116     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-200210000-00022     Document Type: Article

References (28)

1. Ritter JK, Crawford JM, Owens IS 1991 Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells. J Biol Chem 266:1043-1047
2. Bosma PJ, Chowdhury RJ, Huang TJ, Lahiri P, Elferink RP, Van EH 1992 Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I. FASEB J 6:2859-2863
3. Aono S, Yamada Y, Keino H, Koiwai O 1993 Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II. Biochem Biophys Res Commun 197:1239-1244
4. Bosma PJ, Chowdhury RJ, Bakker C, Gantla S, Boer AD, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude ER, Chowdhury RN 1995 The genetic basis of the reduced expression of bilirubin UDP-glucuronosyl transferase 1 in Gilbert's syndrome. N Engl J Med 333:1171-1175
5. Clarke DJ, Moghrabi N, Monaghan G, Cassidy A, Boxer M, Hume R, Burchell B 1997 Genetic defects of the UDP-glucuronosyltransferase-1 gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias. Clin Chim Acta 266:63-74
6. Aono S, Adachi Y, Uyama E, Yamada Y, Keino H, Sanno T, Koiwai O, Sato H 1995 Analysis of genes for bilirubin UDP-glucuronosyl transferase in Gilbert's syndrome. Lancet 345:958-959
7. Koiwai O, Aono S, Yukihiko A, Kamisako T, Yasui Y, Nishizawa M, Sato H 1996 Crigler-Najjar syndrome type 2 is inherited both as a dominant and as a recessive trait. Hum Mol Genet 5:645-647
8. Halamek LP, Stevenson D 1997 Diseases of the fetus and infants. In: Fanaroff AA, Martin RJ (eds) Neonatal-Perinatal Medicine. Mosby Co, St. Louis, pp 1345-1389
9. Maisels MJ 1994 Jaundice. In: Avery GB, Fletechen MA, MacDonald MG (eds) Neonatology, Pathophysiology and Management of the Newborn. 4th ed. New York, JB Lippincott Co, New York, pp 630-675
10. Kaplan M, Renbaum P, Levy-Lahad E, Hammerman C, Lahad A, Beutler E 1997 Gilbert's syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia Proc Natl Acad Sci USA 94:12128-12132
11. Bancroft JD, Kreamer B, Gourley GR 1998 Gilbert's syndrome accelerates development of neonatal jaundice. J Pediatr 132:656-660
12. Iolascon A, Faienza MF, Moretti A, Perrotta S, del Giudice EM 1998 UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. Blood 91:1093
13. Cappellini MD, Martinez di Montemuns F, Sampietro M, Tarazzi D, Fiorelli G 1999 The interaction between Gilbert's syndrome and G6PD deficiency influences bilirubin levels. Br J Haematol 104:928-929
14. Monaghan G, Mclellan A, Mcgeeban A, Li VS, Mollica F, Salemi I, Din Z, Cassidy A, Hume R, Burchell B 1999 Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn. J Pediatr 134:441-446
15. Akaba K, Kimura T, Sasaki A, Tanabe S, Ikegami T, Hashimoto M, Umeda H, Yoshida H, Umetsu K, Chiba H, Yuasa I, Hayasaka K 1998 Neonatal hyperbilirubinemia and mutation of the bilirubin uridine-diphosphate glucuronosyl transferase gene: a common missense mutation among Japanese, Koreans and Chinese. Biochem Mol Biol Int 46:21-26
16. Maruo Y, Nishizawa K, Sato H, Doida Y, Shimada M 1999 Association of neonatal hyperbilirubinemia with bilirubin UDP-glucuronosyltransferase polymorphism. Pediatrics 103:1224-1227
17. Huang CS, Luo GA, Huang MJ, Yu SC, Yang SS 2000 Variations of the bilirubin uridine-diphosphoglucuronosyl transferase 1 A1 gene in healthy Taiwanese. Pharmacogenetics 10:539-544
18. Huang CS, Luo GA, Huang MJ, Chen ES, Young TH, Chao YC 2001 A novel compound heterozygous variation of the uridine-diphosphoglucuronosyl transferase 1A1 gene that causes Crigler-Najjar syndrome type II. Pharmacogenetics 11:639-642
19. Huang CS, Hung KL, Huang MJ, Li YC, Liu TH, Tang TK 1996 Neonatal jaundice and molecular mutations in glucose-6-phosphate dehydrogenase deficient newborn infants. Am J Hematol 51:19-25
20. Huang CS, Chen TH, Wei C, Chein TY, Jang JF 1982 The clinical application of glucose-6-phosphate dehydrogenase quantitative test. J Formos Med Assoc 81:938-944
21. Ives NK 1999 Gastroenterology Part 1. Neonatal jaundice. In: Rennie JM, Roberton NRC (eds) Textbook of neonatology, 3rd ed. Churchill-Livingston, New York, pp 715-732
22. Sampietro M, Iolascon A 1999 Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes. Haematologica 84:150-157
23. Maruo Y, Nishizawa K, Sato H, Sawa H, Shimada M 2000 Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine-diphosphate glucuronosyltransferase gene. Pediatrics 106:1127
24. Monaghan G, Ryan M, Seddon R, Hume R, Burchell B 1996 Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet 347:578-581
25. Monaghan G, Foster B, Jurima-Romet M, Hume R, Burchell B, Owens IS 1997 UGT1 *1 genotyping in a Canadian Inuit population. Pharmacogenetics 7:153-156
26. Beutler E, Gelbart T, Demina 1998 A Racial variability in the UDP-glucuronosyl transferase (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? Proc Natl Acad Sci USA 95:8170-8174
27. Yamamoto K, Sato H, Fujiyama Y, Doida YU, Bamba T 1998 Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II. Biochim Biophys Acta 1406:267-273
28. Huang CS, Chang PF, Huang MJ, Chen ES, Chen WC 2002 Glucose-6-phosphate dehydrogenase deficiency, the UDP-glucuronosyl transferase 1A1 gene, and neonatal hyperbilirubinemia. Gastroenterology 123:127-133