Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene

Journal of Hepatology - Tập 33 - Trang 348-351 - 2000
Maarten T.M Raijmakers1, Peter L.M Jansen2, Eric A.P Steegers3, Wilbert H.M Peters1
1Department of GastroenterologyThe Netherlands
2Department of Gastroenterology, University Hospital, Groningen, The Netherlands
3Obstetrics and Gynaecology, University Hospital St. Radboud, Nijmegen,The Netherlands

Tài liệu tham khảo

Gilbert, 1901, Travaux orginaux, Semaine Medicale, 21, 241 Bosma, 1995, The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome, N Engl J Med, 333, 1171, 10.1056/NEJM199511023331802 Monaghan, 1996, Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome, Lancet, 347, 578, 10.1016/S0140-6736(96)91273-8 Black, 1969, Hepatic bilirubin UDP-glucuronyltransferase activity in liver disease and Gilbert's syndrome, N Engl J Med, 280, 1266, 10.1056/NEJM196906052802303 De Morais, 1992, Decreased glucuronidation and increased bioactivation of acetaminophen in Gilbert's syndrome, Gastroenterology, 102, 577, 10.1016/0016-5085(92)90106-9 McGurk, 1998, Drug glucuronidation by human renal UDP-glucuronosyltransferases, Biochem Pharmacol, 55, 1005, 10.1016/S0006-2952(97)00534-0 Jansen, 1995, Molecular biology of bilirubin metabolism, Prog Liver Dis, 13, 125 Iyer, 1998, Genetic predisposition to the metabolism of irinotecan: role of UGT1A1 in the glucuronidation of its active metabolite (SN-38) in human liver microsomes, J Clin Invest, 101, 847, 10.1172/JCI915 Sieg, 1987, Prevalence of Gilbert's syndrome in Germany, Dtsch Med Wochenschr, 112, 1206, 10.1055/s-2008-1068222 Cuypers, 1983, Microsomal conjugation and oxidation of bilirubin, Biochim Biophys Acta, 758, 135, 10.1016/0304-4165(83)90294-5 Sampietro, 1997, The expression of uridine diphosphate glucuronyltransferase gene is a major determinant of bilirubin level in heterozygous β-thalassaemia and in glucose-6-phosphate dehydrogenase deficiency, Br J Haematol, 99, 437, 10.1046/j.1365-2141.1997.4113228.x Biondi, 1999, Contribution of the TATA-box genotype (Gilbert syndrome) to serum bilirubin concentrations in the Italian population, Clin Chem, 45, 897, 10.1093/clinchem/45.6.897 Bancroft, 1998, Gilbert syndrome accelerates development of neonatal jaundice, J Pediatr, 132, 656, 10.1016/S0022-3476(98)70356-7 Beutler, 1998, Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?, Proc Natl Acad Sci USA, 95, 8170, 10.1073/pnas.95.14.8170 Galanello, 1997, Hyperbilirubinaemia in heterozygous β-thalassaemia is related to co-inherited Gilbert's syndrome, Br J Haematol, 99, 433, 10.1046/j.1365-2141.1997.3703182.x Ishihara, 1999, Genetic basis of fasting hyperbilirubinemia, Gastroenterology, 116, 1272, 10.1016/S0016-5085(99)70038-7 Aono, 1995, Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome, Lancet, 345, 958, 10.1016/S0140-6736(95)90702-5 Peters, 1986, Microsomal UDP-glucuronyl-transferase catalyzed bilirubin diglucuronide formation in human liver, J Hepatol, 2, 182, 10.1016/S0168-8278(86)80077-0 Ciotti, 1998, Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease, Biochim Biophys Acta, 1407, 40, 10.1016/S0925-4439(98)00030-1 Sato, 1996, The genetic basis of Gilbert's syndrome, Lancet, 347, 557, 10.1016/S0140-6736(96)91266-0