UGT1A1, UGT1A6 and UGT1A7 genetic analysis: Repercussion for irinotecan pharmacogenetics in the São Miguel Island population (Azores, Portugal)

Molecular Diagnosis and Therapy

Volumn 13, Issue 4, 2009, Pages 261-268

  Pacheco, Paula R ^a,b   Brilhante, Maria J ^a   Ballart, Cristina ^a   Sigalat, Francesc ^a   Polena, Helena ^a   Cabral, Rita ^a,b   Branco, Claudia C ^a,b   Mota Vieira, Luisa ^a,b  

^a HOSPITAL DO DIVINO ESPÍRITO SANTO   (Portugal)

^b INSTITUTO GULBENKIAN DE CIÊNCIA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCURONOSYLTRANSFERASE 1A1; GLUCURONOSYLTRANSFERASE 1A6; GLUCURONOSYLTRANSFERASE 1A7; IRINOTECAN;

AFRICA; AMINO ACID SEQUENCE; ARTICLE; CANCER RISK; CANCER SUSCEPTIBILITY; ENZYME ACTIVITY; GENE; GENE ACTIVITY; GENE EXPRESSION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; GLUCURONIDATION; GLUCURONOSYLTRANSFERASE 1A1 GENE; GLUCURONOSYLTRANSFERASE 1A6 GENE; GLUCURONOSYLTRANSFERASE 1A7 GENE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; PHARMACOGENETICS; POLYMERASE CHAIN REACTION; PORTUGAL; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS;

ALLELES; ANTINEOPLASTIC AGENTS; CAMPTOTHECIN; GENE FREQUENCY; GENOTYPE; GLUCURONOSYLTRANSFERASE; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; PHARMACOGENETICS; POLYMORPHISM, GENETIC;

EID: 69349095224     PISSN: 11771062     EISSN: 11792000     Source Type: Journal    
DOI: 10.2165/11317170-000000000-00000     Document Type: Article

References (40)

1. Kalow W, Tang BK, Endrenyi I. Hypothesis: comparisons of inter- and intra-individual variations can substitute for twin studies in drug research. Pharmacogenetics 1998; 8: 283-289 (Pubitemid 28372321)
2. McLeod HL, Evans WE. Pharmacogenomics: unlocking the human genome for better drug therapy. Annu Rev Pharmacol Toxicol 2001; 41: 101-121 (Pubitemid 32385884)
3. Dutton GJ. Glucuronidation of drugs and other compounds. Boca Raton (FL): CRC Press Inc, 1980
4. Finel M, Li X, Gardner-Stephen D, et al. Human UDP-glucuronosyltranferase 1A5: identification, expression and activity. J Pharmacol Exp Ther 2005; 315: 1143-1149 (Pubitemid 41635401)
5. Mackenzie PI, Owens IS, Burchell B, et al. The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence. Pharmacogenetics 1997; 7: 255-269 (Pubitemid 27358064)
6. Strassburg CP, Manns MP, Tukey RH. Differential down-regulation of the UDP-glucuronosyltransferase 1A locus is an early event in human liver and biliary cancer. Cancer Res 1997; 57: 2979-2985
7. Strassburg CP, Oldhafer K, Manns MP, et al. Differential expression of the UGT1A locus in human liver, biliary, and gastric tissue: identification of UGT1A7 and UGT1A10 transcripts in extrahepatic tissues. Mol Pharmacol 1997; 52: 212-220 (Pubitemid 27349612)
8. Strassburg CP, Nguyen N, Manns MP, et al. UDP-glucuronosyltransferase activity in human liver and colon. Gastroenterology 1999; 116: 149-160 (Pubitemid 29013504)
9. Strassburg CP, Kneip S, Topp J, et al. Polymorphic gene regulation and interindividual variation of UDP-glucuronosyltransferase activity in human small intestine. J Biol Chem 2000; 275: 36164-36171 (Pubitemid 30841165)
10. Tukey RH, Strassburg CP, MacKenzie PI. Pharmacogenomics of human UDP-glucuronosyltransferases and irinotecan toxicity. Mol Pharmacol 2002; 62: 446-450
11. Carlini LE, Meropol NJ, Chen Y-M, et al. Pharmacogenetic analysis of UGT1A1, UGT1A6, UGT1A7 and thymidylate synthase in a phase II study of capecitabine plus irinotecan in patients with metastatic colorectal cancer. J Clin Oncol 2004; 22 (Meeting Abstracts): 3623
12. Gagne JF, Montminy V, Belanger P, et al. Common human UGT1A polymorphisms and the altered metabolism of irinotecan active metabolite 7-ethyl-10- hydroxycamptothecin (SN-38). Mol Pharmacol 2002; 62: 608-617 (Pubitemid 36329379)
13. Tukey RH, Strassburg CP. Human UDP glucuronosyltransferase: metabolism, expression, and disease. Ann Rev Pharmacol Toxicol 2000; 40: 571-616
14. Guill JH. A history of the Azores Islands. Tulare (CA): Golden Shield, 1993
15. Pacheco PR, Branco CC, Cabral R, et al. The Y-chromosomal heritage of the Azores Islands population. Ann Hum Genet 2005; 69: 145-156
16. Spínola H, BrehmA, Bettencourt B, et al. HLAclass I and II polymorphisms in Azores show different settlements in Oriental and Central islands. Tissue Antigens 2005; 66: 217-230 (Pubitemid 41243310)
17. Branco CC, Bento MS, Gomes CT, et al. Azores Islands: genetic origin, gene flow and diversity pattern. Ann Hum Biol 2008; 35: 65-74
18. Amorim A, Corte-Real C, Morling N, editors. Human DNA bank in São Miguel Island (Azores): a resource for genetic diversity studies. 21st International ISFG Congress; 2005 Sep 13-16; Ponta Delgada
19. Monaghan G, Ryan M, Seddon R, et al. Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet 1996; 347: 578-581 (Pubitemid 26070740)
20. Ciotti M, Marrone A, Potter C, et al. Genetic polymorphism in the human UGT1A6 (planar phenol) UDP-glucuronosyltransferase: pharmacological implications. Pharmacogenetics 1997; 7: 485-495 (Pubitemid 27517577)
21. Guillemette C,Ritter JK, Auyeung DJ, et al. Structural heterogeneity at the UDP-glucuronosyltransferase 1 locus: functional consequences of three novel missense mutations in the human UGT1A7 gene. Pharmacogenetics 2000; 10: 629-644
22. van der Logt EMJ, Bergevoet SM, Roelofs HMJ, et al. Genetic polymorphism in UDP-glucuronosyltransferases and glutathione S-transferases and colorectal cancer risk. Carcinogenesis 2004; 12: 2407-2415 (Pubitemid 39625181)
23. 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 U S A 1998; 95: 8170-8174
24. Nagar S, Zalatoris J, Blanchard R. Human UGT1A6 pharmacogenetics: identification of a novel SNP, characterization of allele frequencies and functional analysis of recombinant allozymes in human liver tissue and in cultured cells. Pharmacogenetics 2004; 14: 487-499 (Pubitemid 39100001)
25. Strassburg CP, Vogel A, Kneip S, et al. Polymorphisms of the human UDP-glucuronosyltransferase (UGT) 1A7 gene in colorectal cancer. Gut 2002; 50: 851-856 (Pubitemid 34539049)
26. Innocenti F, Ratain MJ. "Irinogenetics" and UGT1A: from genotypes to haplotypes. Clin Pharmacol Ther 2004; 75: 495-500
27. Kadakol A, Ghosh SS, Sappal BS, et al. Genetic lesions of bilirubin uridinediphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype. Hum Mutat 2000; 16: 297-306 (Pubitemid 30740441)
28. Ando Y, Saka H, Ando M, et al. Polymorphisms of the UDP- glucuronosyltransferase gene and irinotecan toxicity: a pharmacogenetic analysis. Cancer Res 2000; 60: 6921-6926 (Pubitemid 32059164)
29. Köhle C, Möhrle B, Münzel PA, et al. Frequent co-occurrence of the TATA box mutation associated with Gilbert's syndrome (UGT1A1*28) with other polymorphisms of the UDP-glucuronosyltransferase-1 locus (UGT1A6*2 and UGT1A7*3) in Caucasians and Egyptians. Biochem Pharmacol 2003; 65: 1521-1527
30. Lampe JW, Bigler J, Horner NK, et al. UDP-glucuronosyltransferase (UGT1A*28 and UGT1A6*2) polymorphisms in Caucasians and Asians: relationships to serum bilirubin concentrations. Pharmacogenetics 1999; 9: 341-349 (Pubitemid 29376378)
31. Strassburg CP, Manns MP, Tukey RH. Expression of the UDP- glucuronosyltransferase 1A locus in human colon: identification and characterization of the novel extrahepatic UGT1A8. J Biol Chem 1998; 273: 8719-8726
32. Strassburg CP, Strassburg A, Nguyen N, et al. Regulations and function of family 1 and 2 UDP-glucuronosyltransferese genes (UGT1A, UGT2B) in human oesophagus. Biochem J 1999; 338: 489-498 (Pubitemid 129512275)
33. Zheng Z, Park JY, Guillemette C, et al. Tobacco carcinogen-detoxifying enzyme UGT1A7 and its association with orolaryngeal cancer risk. J Natl Cancer Inst 2001; 93: 1411-1418 (Pubitemid 32936819)
34. Ockenga J, Vogel A, Teich N, et al. UDP-glucuronosyltransferase (UGT1A7) gene polymorphisms increase the risk of chronic pancreatitis and pancreatic cancer. Gastroenterology 2003; 124: 1802-1808
35. Wang Y, Kato N, Hoshida Y, et al. UDP-glucuronosyltransferase 1A7 genetic polymorphisms are associated with hepatocellular carcinoma in Japanese patients with hepatitis C virus infection. Clin Cancer Res 2004; 10: 2441-2446 (Pubitemid 38445704)
36. Tang KS, Chiu HF, Chen HH, et al. Link between colorectal cancer and polymorphisms in the uridine diphosphoglucuronosyltransferase 1A7 and 1A1 genes. World J Gastroenterol 2005; 11: 3250-3254 (Pubitemid 40973894)
37. Innocenti F, Undevia SD, Iyer L, et al. Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan. J Clin Oncol 2004; 22: 1382-1388 (Pubitemid 41103619)
38. Iyer L, Hall D, Das S, et al. Phenotype-genotype correlation of in-vitro SN-38 (active metabolite of irinotecan) and bilirubin glucuronidation in human liver tissuewith UGT1A1 promoter polymorphism. Clin Pharmacol Ther 1999; 65: 576-582 (Pubitemid 29237332)
39. Odeberg JM, Andrade J, Holmberg K, et al. UGT1A polymorphisms in a Swedish cohort and a human diversity panel, and the relation to bilirubin plasma levels in males and females. Pharmacogenetics 2006; 62: 829-837 (Pubitemid 44521431)
40. Urawa N, Kobayashi Y, Araki J, et al. Linkage disequilibrium of UGT1A1*6 and UGT1A1*28 in relation to UGT1A6 and UGT1A7 polymorphisms. Oncol Rep 2006; 16: 801-806