Gilbert syndrome: The UGT1A1*28 promoter polymorphism as a biomarker of multifactorial diseases and drug metabolism

Biomarkers in Medicine

Volumn 6, Issue 2, 2012, Pages 223-230

  Gil, Justyna ^a   Sa̧siadek, Maria M ^a  

^a WROCLAW MEDICAL UNIVERSITY   (Poland)

Author keywords

*28 polymorphism; Gilbert syndrome; UGT1A1gene

Indexed keywords

7 ETHYL 10 HYDROXYCAMPTOTHECIN; ANTHRACYCLINE DERIVATIVE; ATAZANAVIR; ATORVASTATIN; BILIRUBIN; BIOLOGICAL MARKER; DASATINIB; DNA; ERLOTINIB; EZETIMIBE; GEFITINIB; GLUCURONOSYLTRANSFERASE 1A1; INDINAVIR; IRINOTECAN; LEVOTHYROXINE; NILOTINIB; PAZOPANIB; PEGVISOMANT;

5' UNTRANSLATED REGION; ACROMEGALY; BONE MARROW SUPPRESSION; BONE MARROW TRANSPLANTATION; BREAST CANCER; CANCER RISK; DIARRHEA; DNA DETERMINATION; DRUG METABOLISM; DRUG TOLERANCE; ENZYME INHIBITION; GENE; GENE INSERTION; GENE LINKAGE DISEQUILIBRIUM; GENETIC POLYMORPHISM; GENOTYPE; GILBERT DISEASE; GLUCURONIDATION; HEAD AND NECK CANCER; HODGKIN DISEASE; HOMOZYGOSITY; HUMAN; HYPERBILIRUBINEMIA; HYPERCHOLESTEROLEMIA; JAUNDICE; LIVER BIOPSY; MEDICAL RESEARCH; MOLECULAR DIAGNOSIS; NEUTROPENIA; NONHUMAN; OVERALL SURVIVAL; PATIENT CARE; PROGNOSIS; PROMOTER REGION; REVIEW; THYROID CANCER; UGT1A1 GENE;

ANTINEOPLASTIC AGENTS; BIOLOGICAL MARKERS; GILBERT DISEASE; GLUCURONOSYLTRANSFERASE; HUMANS; NEOPLASMS; POLYMORPHISM, GENETIC; PROMOTER REGIONS, GENETIC;

EID: 84859067335     PISSN: 17520363     EISSN: 17520371     Source Type: Journal    
DOI: 10.2217/bmm.12.4     Document Type: Review

References (58)

1. Matsui K, Maruo Y, Sato H, Takeuchi Y. Combined effect of regulatory polymorphisms on transcription of UGT1A1 as a cause of Gilbert syndrome. BMC Gastroenterol. 10, 57 (2010).
2. Guillemette C, Bélanger A, Lépine J. Metabolic inactivation of estrogens in breast tissue by UDP-glucuronosyltransferase enzymes: an overview. Breast Cancer Res. 6(6), 246-254 (2004).
3. Strassburg CP. Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome). Best Pract. Res. Clin. Gastroenterol. 24(5), 555-571 (2010).
4. Girard H, Thibaudeau J, Court MH et al. UGT1A1 polymorphisms are important determinants of dietary carcinogen detoxification in the liver. Hepatology 42, 448-457 (2005).
5. Kadakol A, Ghosh SS, Sappal BS et al. Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype. Hum. Mutat. 16(4), 297-306 (2000).
6. Yao L, Qiu LX, Yu L et al. The association between TA-repeat polymorphism in the promoter region of UGT1A1 and breast cancer risk: a meta-analysis. Breast Cancer Res. Treat. 122(3), 879-882 (2010).
7. Maruo Y, D'Addario C, Mori A et al. Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome. Hum. Genet. 115(6), 525-526 (2004).
8. Johnson AD, Kavousi M, Smith AV et al. Genome-wide association meta-analysis for total serum bilirubin levels. Hum. Mol. Genet. 18(14), 2700-2710 (2009).
9. 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. 33(3), 348-351 (2000).
10. Bosma PJ, Chowdhury JR, Bakker C et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N. Engl. J. Med. 333, 1171-1175 (1995).
11. Strassburg CP. Gilbert-Meulengracht's syndrome and pharmacogenetics: is jaundice just the tip of the iceberg? Drug Metab. Rev. 42(1), 168-181 (2010).
12. Strassburg CP. Pharmacogenetics of Gilbert's syndrome. Pharmacogenomics 9(6), 703-715. (2008).
13. Smitherman H, Stark AR, Bhutani VK. Early recognition of neonatal hyperbilirubinemia and its emergent management. Semin. Fetal Neonatal Med. 11(3), 214-224 (2006).
14. Long J, Zhang S, Fang X, Luo Y, Liu J. Association of neonatal hyperbilirubinemia with uridine diphosphate-glucuronosyltransferase 1A1 gene polymorphisms: meta-analysis. Pediatr. Int. 53(4), 530-540 (2011).
15. Ferraris A, D'Amato G, Nobili V et al. Combined test for UGT1A1 -3279T-G and A(TA)nTAA polymorphisms best predicts Gilbert's syndrome in Italian pediatric patients. Genet. Test. 10(2), 121-125 (2006).
16. Kitsiou-Tzeli S, Kanavakis E, Tzetis M et al. Gilbert's syndrome as a predisposing factor for idiopathic cholelithiasis in children. Haematologica 88(10), 1193-1194 (2003).
17. Wasmuth HE, Keppeler H, Herrmann U, et al. Coinheritance of Gilbert syndrome-associated UGT1A1 mutation increases gallstone risk in cystic fibrosis. Hepatology 43(4), 738-741 (2006).
18. del Giudice EM, Perrotta S, Nobili B et al. Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. Blood 94(7), 2259-2262 (1999).
19. Galanello R, Piras S, Barella S et al. Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia. Br. J. Haematol. 115(4), 926-928 (2001).
20. Passon RG, Howard TA, Zimmerman SA et al. Influence of bilirubin uridine diphosphate-glucuronosyltransferase 1A promoter polymorphisms on serum bilirubin levels and cholelithiasis in children with sickle cell anemia. J. Pediatr. Hematol. Oncol. 23(7), 448-451 (2001).
21. Floreani A, Corsi N, Martines D et al. No effect of endurance exercise on serum bilirubin in healthy athletes and with congenital hyperbilirubinemia (Gilbert's syndrome). J. Sports Med. Phys. Fitness 33(1), 79-82 (1993).
22. Guillemette C, Millikan RC, Newman B, Housman DE. Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 and association with breast cancer among African Americans. Cancer Res. 60(4), 950-956 (2000).
23. Guillemette C, De Vivo I, Hankinson SE et al. Association of genetic polymorphisms in UGT1A1 with breast cancer and plasma hormone levels. Cancer Epidemiol. Biomarkers Prev. 10(6), 711-714 (2001).
24. Adegoke OJ, Shu XO, Gao YT et al. Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 (UGT1A1) and risk of breast cancer. Breast Cancer Res. Treat. 85(3), 239-245 (2004).
25. Ando Y, Fujita K, Sasaki Y, Hasegawa Y. UGT1A1.6 and UGT1A1.27 for individualized irinotecan chemotherapy. Curr. Opin. Mol. Ther. 9(3), 258-262 (2007).
26. Justenhoven C, Winter S, Dünnebier T et al. Combined UGT1A1 and UGT1A6 genotypes together with a stressful life event increase breast cancer risk. Breast Cancer Res. Treat. 124(1), 289-292 (2010).
27. Trontelj J, Marc J, Zavratnik A et al. Effects of UGT1A1*28 polymorphism on raloxifene pharmacokinetics and pharmacodynamics. Br. J. Clin. Pharmacol. 67(4), 437-444 (2009).
28. Holt SK, Rossing MA, Malone KE et al. Ovarian cancer risk and polymorphisms involved in estrogen catabolism. Cancer Epidemiol. Biomarkers Prev. 16(3), 481-489 (2007).
29. Duguay Y, McGrath M, Lépine J et al. The functional UGT1A1 promoter polymorphism decreases endometrial cancer risk. Cancer Res. 64(3), 1202-1207 (2004).
30. Lépine J, Bernard O, Plante M et al. Specificity and regioselectivity of the conjugation of estradiol, estrone, and their catecholestrogen and methoxyestrogen metabolites by human uridine diphospho-glucuronosyltransferases expressed in endometrium. J. Clin. Endocrinol. Metab. 89(10), 5222-5232 (2004).
31. Lacko M, Roelofs HM, Te Morsche RH et al. Genetic polymorphism in the conjugating enzyme UGT1A1 and the risk of head and neck cancer. Int. J. Cancer 127(12), 2815-2821 (2010).
32. Zheng Z, Fang JL, Lazarus P. Glucuronidation: an important mechanism for detoxification of benzo[a]pyrene metabolites in aerodigestive tract tissues. Drug Metab. Dispos. 30(4), 397-403 (2002).
33. Temme EH, Zhang J, Schouten EG, Kesteloot H. Serum bilirubin and 10 year mortality risk in a Belgian population. Cancer Causes Control 12(10), 887-894 (2001).
34. NovotnÝ L, Vítek L. Inverse relationship between serum bilirubin and atherosclerosis in men: a meta-analysis of published studies. Exp. Biol. Med. (Maywood) 228(5), 568-571 (2003).
35. Lin JP, O'Donnell CJ, Schwaiger JP et al. Association between the UGT1A1*28 allele, bilirubin levels, and coronary heart disease in the Framingham Heart Study. Circulation 114(14), 1476-1481 (2006).
36. Schwertner HA, Vítek L. Gilbert syndrome, UGT1A1*28 allele, and cardiovascular disease risk: possible protective effects and therapeutic applications of bilirubin. Atherosclerosis 198(1), 1-11 (2008).
37. Nolting PR, Kusters DM, Hutten BA, Kastelein JJ. Serum bilirubin levels in familial hypercholesterolemia: a new risk marker for cardiovascular disease? J. Lipid Res. 52(9), 1755-1759 (2011).
38. Ollinger R, Kogler P, Troppmair J et al. Bilirubin inhibits tumor cell growth via activation of ERK. Cell Cycle 6(24), 3078-3085 (2007).
39. Rao P, Suzuki R, Mizobuchi S, Yamaguchi T, Sasaguri S. Bilirubin exhibits a novel anti-cancer effect on human adenocarcinoma. Biochem. Biophys. Res. Commun. 342, 1279-1283 (2006).
40. KeshaVan P, Schwemberger SJ, Smith DL, Babcock GF, Zucker SD. Unconjugated bilirubin induces apoptosis in colon cancer cells by triggering mitochondrial depolarization. Int. J. Cancer 112, 433-445 (2004).
41. Bulmer AC, Ried K, Coombes JS et al. The anti-mutagenic and antioxidant effects of bile pigments in the Ames Salmonella test. Mutat. Res. 629(2), 122-132 (2007).
42. Peterson S, Bigler J, Horner NK et al. Cruciferae interact with the UGT1A1*28 polymorphism to determine serum bilirubin levels in humans. J. Nutr. 135(5), 1051-1055 (2005).
43. Saracino MR, Bigler J, Schwarz Y et al. Citrus fruit intake is associated with lower serum bilirubin concentration among women with the UGT1A1*28 polymorphism. J. Nutr. 139(3), 555-560 (2009).
44. Palomaki GE, Bradley LA, Douglas MP et al. Can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan? An evidence-based review. Genet. Med. 11(1), 21-34 (2009).
45. Hu ZY, Yu Q, Pei Q, Guo C. Dose-dependent association between UGT1A1*28 genotype and irinotecan-induced neutropenia: low doses also increase risk. Clin. Cancer Res. 16(15), 3832-3842 (2010).
46. Hoskins JM, Goldberg RM, Qu P, Ibrahim JG, McLeod HL. UGT1A1*28 genotype and irinotecan-induced neutropenia: dose matters. J. Natl Cancer Inst. 99(17), 1290-1295 (2007).
47. Shulman K, Cohen I, Barnett-Griness O et al. Clinical implications of UGT1A1*28 genotype testing in colorectal cancer patients. Cancer 117(14), 3156-3162 (2011).
48. Glimelius B, Garmo H, Berglund A et al. Prediction of irinotecan and 5-fluorouracil toxicity and response in patients with adVanced colorectal cancer. Pharmacogenomics J. 11(1), 61-71 (2011).
49. Braun MS, Richman SD, Thompson L et al. Association of molecular markers with toxicity outcomes in a randomized trial of chemotherapy for adVanced colorectal cancer: the FOCUS trial. J. Clin. Oncol. 27(33), 5519-5528 (2009).
50. Liu Y, Ramírez J, House L, Ratain MJ. Comparison of the drug-drug interactions potential of erlotinib and gefitinib via inhibition of UDP-glucuronosyltransferases. Drug Metab. Dispos. 38(1), 32-39 (2010).
51. Ribrag V, Koscielny S, Casasnovas O et al. Pharmacogenetic study in Hodgkin lymphomas reveals the impact of UGT1A1 polymorphisms on patient prognosis. Blood 113(14), 3307-3313 (2009).
52. Zhang D, Chando TJ, Everett DW et al. In vitro inhibition of UDP glucuronosyltransferases by atazanavir and other HIV protease inhibitors and the relationship of this property to in vivo bilirubin glucuronidation. Drug Metab. Dispos. 33(11), 1729-1739 (2005).
53. Rotger M, Taffe P, Bleiber G et al. Swiss HIV Cohort Study. Gilbert syndrome and the development of antiretroviral therapy-associated hyperbilirubinemia. J. Infect. Dis. 192(8), 1381-1386. (2005).
54. Lankisch TO, Moebius U, Wehmeier M et al. Gilbert's disease and atazanavir: from phenotype to UDP-glucuronosyltransferase haplotype. Hepatology 44(5), 1324-1332 (2006).
55. Bernabeu I, Marazuela M, Lucas T et al. Pegvisomant-induced liver injury is related to the UGT1A1*28 polymorphism of Gilbert's syndrome. J. Clin. Endocrinol. Metab. 95(5), 2147-2154. (2010).
56. Riedmaier S, Klein K, Hofmann U et al. UDP-glucuronosyltransferase (UGT) polymorphisms affect atorvastatin lactonization in vitro and in vivo. Clin. Pharmacol. Ther. 87(1), 65-73 (2010).
57. Bae JW, Choi CI, Lee JH et al. Effects of UDP-glucuronosyltransferase polymorphisms on the pharmacokinetics of ezetimibe in healthy subjects. Eur. J. Clin. Pharmacol. 67(1), 39-45 (2011
58. Vargens DD, Neves RR, Bulzico DA et al. Association of the UGT1A1-53(TA)n polymorphism with l-thyroxine doses required for thyrotropin suppression in patients with differentiated thyroid cancer. Pharmacogenet. Genomics 21(6), 341-343 (2011).