Combined effect of regulatory polymorphisms on transcription of UGT1A1 as a cause of Gilbert syndrome

BMC Gastroenterology

Volumn 10, Issue , 2010, Pages

  Matsui, Katsuyuki ^a   Maruo, Yoshihiro ^a   Sato, Hiroshi ^a   Takeuchi, Yoshihiro ^a  

^a SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CONSTITUTIVE ANDROSTANE RECEPTOR; GLUCURONOSYLTRANSFERASE 1A1; GUANINE; PHENOBARBITAL; THYMINE; BILIRUBIN URIDINE DIPHOSPHOGLUCURONOSYL TRANSFERASE 1A1; BILIRUBIN URIDINE-DIPHOSPHOGLUCURONOSYL TRANSFERASE 1A1; CELL RECEPTOR; GLUCURONOSYLTRANSFERASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; GENE EXPRESSION; GENETIC TRANSCRIPTION; GILBERT DISEASE; HAPLOTYPE; HUMAN; HUMAN CELL; IN VITRO STUDY; NUCLEOTIDE SEQUENCE; REGULATOR GENE; TATA BOX; WILD TYPE; ASIAN; CASE CONTROL STUDY; CAUCASIAN; GENETIC POLYMORPHISM; GENETICS; JAPAN; METABOLISM;

ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; GILBERT DISEASE; GLUCURONOSYLTRANSFERASE; HAPLOTYPES; HUMANS; JAPAN; POLYMORPHISM, GENETIC; RECEPTORS, CYTOPLASMIC AND NUCLEAR; TRANSCRIPTION, GENETIC;

EID: 77953126166     PISSN: None     EISSN: 1471230X     Source Type: Journal    
DOI: 10.1186/1471-230X-10-57     Document Type: Article

References (35)

1. Bosma PJ, Seppen J, Goldhoorn B, Bakker C, Oude Elferink RP, Chowdhury JR, Chowdhury NR, Jansen PL. Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man. J Biol Chem 1994, 269:17960-17964.
2. Owens D, Evans J. Population studies on Gilbert's syndrome. J Med Genet 1975, 12:152-156. 10.1136/jmg.12.2.152, 1013257, 1142378.
3. Carey RG, Balistreri WF. Inherited Deficient Conjugation of Bilirubin (Familial Nonhemolytic Unconjugated Hyperbilirubinemia). Nelson textbook of pediatrics 2007, 1676-1677. Philadelphia: Saunders, Kliegman RM, Behrman RD, Jenson HB, Stanton BF, 18.
4. Pratt DS, Kaplan MM. Jaundice. Harrison's Principles of Internal Medicine 2008, 261-266. New York: McGraw-Hill, Fauci AS, Braunwald E, Kasper DL, Hauser SL, Longo DL, Jameson JL, Loscalzo J, 17.
5. Sieg A, Arab L, Schlierf G, Stiehl A, Kommerell B. Prevalence of Gilbert's syndrome in Germany. Deutsch Med Wochenschr 1987, 112:1206-1208.
6. Ritter JK, Chen F, Sheen YY, Tran HM, Kimura S, Yeatman MT, Owens IS. A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini. J Biol Chem 1992, 267:3257-3261.
7. Sugatani J, Kojima H, Ueda A, Kakizaki S, Yoshinari K, Gong QH, Owens IS, Negishi M, Sueyoshi T. The phenobarbital response enhancer module in the human bilirubin UDP-glucuronosyltransferase UGT1A1 gene and regulation by the nuclear receptor CAR. Hepatology 2001, 33:1232-1238. 10.1053/jhep.2001.24172, 11343253.
8. den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000, 15:7-12. 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N, 10612815.
9. Sato H, Adachi Y, Koiwai O. The genetic basis of Gilbert's syndrome. Lancet 1996, 34:557-558.
10. Sugatani J, Yamakawa K, Yoshinari K, Machida T, Takagi H, Mori M, Kakizaki S, Sueyoshi T, Negishi M, Miwa M. Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia. Biochem Biophys Res Commun 2002, 292:492-497. 10.1006/bbrc.2002.6683, 11906189.
11. Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP, Chowdhury NR. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 1995, 333:1171-1175. 10.1056/NEJM199511023331802, 7565971.
12. Innocenti F, Grimsley C, Das S, Ramirez J, Cheng C, Kuttab-Boulos H, Ratain MJ, Rienzo AD. Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups. Pharmacogenetics 2002, 12:725-733. 10.1097/00008571-200212000-00006, 12464801.
13. Monaghan G, Ryan M, Seddon R, Hume R, Burchell B. Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet 1996, 347:578-581. 10.1016/S0140-6736(96)91273-8, 8596320.
14. Beutler E, Gelbart T, Demina A. Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?. Proc Natl Acad Sci USA 1998, 95:8170-8174. 10.1073/pnas.95.14.8170, 20948, 9653159.
15. Maruo Y, Nishizawa K, Sato H, Sawa H, Shimada M. Association of neonatal hyperbilirubinemia with bilirubin UDP-glucuronosyltransferase polymorphism. Pediatrics 1999, 103:1224-1227. 10.1542/peds.103.6.1224, 10353933.
16. Black M, Billing BH. Hepatic bilirubin UDP-glucuronyl transferase activity in liver disease and Gilbert's syndrome. N Engl J Med 1969, 280:1266-1271.
17. Adachi Y, Yamamoto T. Hepatic bilirubin-conjugating enzymes of man in the normal state and in liver disease. Gastroenterol Jpn 1982, 17:235-240.
18. Raijmakers MT, Jansen PL, Steegers EA, Peters WH. Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene. J Hepatol 2000, 33:348-351. 10.1016/S0168-8278(00)80268-8, 11019988.
19. Fang JL, Lazarus P. Correlation between the UDP-glucuronosyltransferase (UGT1A1) TATAA box polymorphism and carcinogen detoxification phenotype significantly decreased glucuronidating activity against benzo(a)pyrene-7,8-dihydrodiol(-) in liver microsomes from subjects with the UGT1A1*28 variant. Cancer Epidemiology, Biomarkers & Prevention 2004, 13:102-109.
20. Girard H, Thibaudeau J, Court MH, Fortier LC, Villeneuve L, Caron P, Hao Q, von Moltke LL, Greenblatt DJ, Guillemette C. UGT1A1 polymorphisms are important determinants of dietary carcinogen detoxification in the liver. Hepatology 2005, 42:448-457. 10.1002/hep.20770, 15986396.
21. Ueyama H, Koiwai O, Soeda Y, Sato H, Satoh Y, Ohkubo I, Doida Y. Analysis of the promoter of human bilirubin UDP-glucuronosyltransferase gene (UGT1*1) in relevance to Gilbert's syndrome. Hepatol Res 1997, 9:152-163.
22. Brierley CH, Senafi SB, Clarke D, Hsu MH, Johnson EF, Burchell B. Regulation of the human bilirubin UDP-glucuronosyltransferase gene. Adv Enzyme Regul 1996, 36:85-97. 10.1016/0065-2571(95)00006-2, 8869742.
23. Sai K, Kaniwa N, Itoda M, Saito Y, Hasegawa R, Komamura K, Ueno K, Kamakura S, Kitakaze M, Kitamura Y, Kamatani N, Kamatani N, Minami H, Ohtsu A, Shirao K, Yoshida T, Saijo N. UGT1A1 haplotypes associated with reduced glucuronidation and increased serum bilirubin in irinotecan-administered Japanese patients with cancer. Clin Pharmacol Ther 2004, 75:501-15. 10.1016/j.clpt.2004.01.010, 15179405.
24. Maruo Y, D'Addario C, Mori A, Iwai M, Takahashi H, Sato H, Takeuchi Y. Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome. Hum Genet 2004, 115:525-526. 10.1007/s00439-004-1183-x, 15378351.
25. GeneSNPs. , http://www.genome.utah.edu/genesnps/
26. Auerbach SS, Ramsden R, Stoner MA, Verlinde C, Hassett C, Omiecinski CJ. Alternatively spliced isoforms of the human constitutive androstane receptor. Nucleic Acids Res 2003, 31:3194-3207. 10.1093/nar/gkg419, 162252, 12799447.
27. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265. 10.1093/bioinformatics/bth457, 15297300.
28. Sugatani J, Mizushima K, Osabe M, Yamakawa K, Kakizaki S, Takagi H, Mori M, Ikari A, Miwa M. Transcriptional regulation of human UGT1A1 gene expression through distal and proximal promoter motifs: implication of defects in the UGT1A1 gene promoter. Naunyn-Schmiedeberg's Arch Pharmacol 2008, 377:597-605.
29. Huang W, Zhang J, Chua SS, Qatanani M, Han Y, Granata R, Moore DD. Induction of bilirubin clearance by the constitutive androstane receptor (CAR). Proc Natl Acad Sci USA 2003, 100:4156-4161. 10.1073/pnas.0630614100, 153064, 12644704.
30. Huang YY, Huang MJ, Yang SS, Teng HC, Huang CS. Variations in the UDP- glucuronosyltransferase 1A1 gene for the development of unconjugated hyperbilirubinemia in Taiwanese. Pharmacogenomics 2008, 9:1229-1235. 10.2217/14622416.9.9.1229, 18781851.
31. Pascussi JM, Drocourt L, Gerbal-Chaloin S, Fabre JM, Maurel P, Vilarem MJ. Dual effect of dexamethasone on CYP3A4 gene expression in human hepatocytes. Sequential role of glucocorticoid receptor and pregnane × receptor. Eur J Biochem 2001, 268:6346-6358. 10.1046/j.0014-2956.2001.02540.x, 11737189.
32. Borucki K, Weikert C, Fisher E, Jakubiczka S, Luley C, Westphal S, Dierkes J. Haplotypes in the UGT1A1 gene and their role as genetic determinants of bilirubin concentration in healthy German volunteers. Clin Biochem 2009, (42:):1635-1641. 10.1016/j.clinbiochem.2009.08.011, 19732760.
33. Costa E, Vieira E, Dos Santos R. The polymorphism c.-3279T>G in the phenobarbital-responsive enhancer module of the bilirubin UDP-glucuronosyltransferase gene is associated with Gilbert syndrome. Clin Chem 2005, 21:2204-2206.
34. Jirsa M, Petrasek J, Vitek L. Linkage between A(TA)7TAA and -3279T>G mutations in UGT1A1 is not essential for pathogenesis of Gilbert syndrome. Liver Int 2006, 26:1302-1303. 10.1111/j.1478-3231.2006.01359.x, 17105600.
35. Yamada Y, Goto H, Suzumori K, Adachi R, Ogasawara N, Ogasawara N. Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency. Hum Genet 1992, 90:379-384. 10.1007/BF00220463, 1483694.