Clinical applicability of sequence variations in genes related to drug metabolism

Current Drug Metabolism

Volumn 12, Issue 5, 2011, Pages 445-454

  Stojiljkovic, Maja ^a   Patrinos, George P ^b   Pavlovic, Sonja ^a  

^a UNIVERSITY OF BELGRADE   (Serbia)

^b UNIVERSITY OF PATRAS   (Greece)

Author keywords

Drug metabolizing enzymes; Irinotecan; Pharmacogenomics; Single nucleotide polymorphism; Thiopurine drugs; Warfarin

Indexed keywords

AZATHIOPRINE; CYTOCHROME P450 2C9; DRUG METABOLIZING ENZYME; GLUCURONOSYLTRANSFERASE 1A1; IRINOTECAN; MERCAPTOPURINE; THIOPURINE METHYLTRANSFERASE; TIOGUANINE; WARFARIN;

ACUTE LEUKEMIA; ARTICLE; BONE MARROW TOXICITY; COLORECTAL CANCER; CROHN DISEASE; DIARRHEA; DRUG METABOLISM; ENZYME DEFICIENCY; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; GILBERT DISEASE; HUMAN; LUPUS VULGARIS; LYMPHOMA; PHARMACOGENETICS; PHARMACOGENOMICS; RHEUMATOID ARTHRITIS; SINGLE NUCLEOTIDE POLYMORPHISM; ULCERATIVE COLITIS;

ARYL HYDROCARBON HYDROXYLASES; DRUG THERAPY; GLUCURONOSYLTRANSFERASE; HUMANS; INDIVIDUALIZED MEDICINE; METABOLIC DETOXICATION, DRUG; METHYLTRANSFERASES; MIXED FUNCTION OXYGENASES; PHARMACEUTICAL PREPARATIONS; PHARMACOGENETICS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79955694748     PISSN: 13892002     EISSN: None     Source Type: Journal    
DOI: 10.2174/138920011795495277     Document Type: Article

References (92)

1. Feuk, L.; Carson, A.R.; Scherer, S.W. Structural variation in the human genome. Nat. Rev. Genet., 2006, 7, 85-97. (Pubitemid 43128895)
2. Kruglyak, L.; Nickerson, D.A. Variation is the spice of life. Nat. Genet, 2001, 27, 234-236. (Pubitemid 32201838)
3. Redon, R.; Ishikawa, S.; Fitch, K.R.; Feuk, L.; Perry, G.H.; Andrews, T.D.; Flegler, H.; Shapero, M.H.; Carson, A.R.; Chen, W.; Cho, E.K.; Dallaire, S; Freeman, J.L.; González, J.R.; Gratacòs, M.; Huang, J.; Kalaitzopoulos, D.; Komura, D.; MacDonald, J.R.; Marshall, C.R.; Mei, R.; Montgomery, L.; Nishimura, K.; Okamura, K.; Shen, F.; Somerville, M.J.; Tchinda, J.; Valsesia, A.; Woodwark, C.; Yang, F.; Zhang, J.; Zerjal, T.; Zhang, J.; Armengol, L.; Conrad, D.F.; Estivill, X.; Tyler-Smith, C.; Carter, N.P.; Aburatani, H.; Lee, C.; Jones, K.W.; Scherer, S.W.; Hurles, M.E. Global variation in copy number in the human genome. Nature, 2006, 444, 444-454. (Pubitemid 44809057)
4. Mehta, S.; Shelling, A.; Muthukaruppan, A.; Lasham, A.; Blenkiron, C.; Laking, G.; Print, C. Predictive and prognostic molecular markers for cancer medicine. Ther. Adv. Med. Oncol., 2010, 2, 125-148.
5. Eichelbaum, M.; Ingelman-Sundberg, M.; Evans, W.E. Pharmacogenomics and individualized drug therapy. Annu. Rev. Med., 2006, 57, 119-137. (Pubitemid 43261982)
6. Zhou, S.F.; Di, Y.M.; Chan, E.; Du, Y.M.; Chow, V.D.; Xue, C.C.; Lai, X.; Wang, J.C.; Li, C.G.; Tian, M.; Duan, W. Clinical pharmacogenetics and potential application in personalized medicine. Curr. Drug. Metab., 2008, 9(8), 738-784.
7. Furuya, H.; Fernandez-Salguero, P.; Gregory W.; Taber H.; Steward A.; Gonzalez F.J.; Idle J.R. Genetic polymorphism of CYP2C9 and its effect on warfarin maintenance dose requirement in patients undergoing anticoagulation therapy. Pharmacogenetics, 1995, 5, 389-392. (Pubitemid 26010117)
8. Aithal, G.P.; Day C.P.; Kesteven, P.J.; Daly, A.K. Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications. Lancet, 1999, 353, 717-719. (Pubitemid 29103806)
9. D'Andrea, G.; D'Ambrosio, R.L.; Di Perna, P.; Chetta, M.; Santacroce, R.; Brancaccio, V.; Grandone, E.; Margaglione, M. A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin. Blood, 2005, 105, 645-649. (Pubitemid 40070748)
10. Rieder, M.J.; Reiner, A.P.; Gage, B.F.; Nickerson, D.A.; Eby, C.S.; McLeod, H.L.; Blough, D.K.; Thummel, K.E.; Veenstra, D.L.; Rettie, A.E. Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N. Engl. J. Med., 2005, 352, 2285-2293. (Pubitemid 40740552)
11. Carlquist, J.F.; Horne, B.D.; Muhlestein, J.B.; Lappe, D.L.; Whiting, B.M.; Kolek, M.J.; Clarke, J.L.; James, B.C.; Anderson, J.L. Genotypes of the cytochrome p450 isoform, CYP2C9, and the vitamin K epoxide reductase complex subunit 1 conjointly determine stable warfarin dose: a prospective study. J. Thromb. Thrombolysis, 2006, 22, 191-197. (Pubitemid 44857780)
12. Sconce, E.A.; Khan, T.I.; Wynne, H.A.; Avery, P.; Monkhouse, L.; King, B.P.; Wood, P.; Kesteven, P.; Daly, A.K.; Kamali, F. The impact of CYP2C9 and VKORC1 genetic polymorphism and patient characteristics upon warfarin dose requirements: proposal for a new dosing regimen. Blood, 2005, 106, 2329-2333. (Pubitemid 41510803)
13. Aquilante, C.L.; Langaee, T.Y.; Lopez, L.M.; Yarandi, H.N.; Tromberg, J.S.; Mohuczy, D.; Gaston, K.L.; Waddell, C.D.; Chirico, M.J.; Johnson, J.A. Influence of coagulation factor, vitamin K epoxide reductase complex subunit 1, and cytochrome P450 2C9 gene polymorphisms on warfarin dose requirements. Clin. Pharmacol. Ther., 2006, 79, 291-302.
14. Rost, S.; Fregin, A.; Ivaskevicius, V.; Conzelmann, E.; Hortnagel, K.; Pelz, H.J.; Lappegard, K.; Seifried, E.; Scharrer, I.; Tuddenham, E.G.; Muller, C.R.; Strom, T.M.; Oldenburg, J. Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. Nature, 2004, 427, 537-41. (Pubitemid 38209110)
15. Chu, P.H.; Huang, T.Y.; Williams, J.; Stafford, D.W. Purified vitamin K epoxide reductase alone is sufficient for conversion of vitamin K epoxide to vitamin K and vitamin K to vitamin KH2. Proc. Natl. Acad. Sci. U S A., 2006; 103, 19308-19313. (Pubitemid 46026028)
16. Geisen, C.; Watzka, M.; Sittinger, K.; Steffens, M.; Daugela, L.; Seifried, E., Daugela, L., Seifried, E., Müller, C.R., Wienker, T.F., Oldenburg, J. VKORC1 haplotypes and their impact on the interindividual and inter-ethnical variability of oral anticoagulation. Thromb. Haemost., 2005, 94(4), 773-779. (Pubitemid 41489236)
17. Bodin, L.; Verstuyft, C.; Tregouet, D.A.; Robert, A.; Dubert, L.; Funck-Brentano, C.; Jaillon, P.; Beaune, P.; Laurent-Puig, P.; Becquemont, L.; Loriot, M.A. Cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase (VKORC1) genotypes as determinants of acenocumarol sensitivity. Blood, 2005, 106, 135-140. (Pubitemid 40967184)
18. Yuan, H.Y.; Chen, J.J.; Lee, M.T.; Wung, J.C.; Chen, Y.F.; Charng, M.J.; Lu, M.J; Hung, C.R.; Wei, C.R.; Chen C.H.; Wu, J.Y.; Chen, Y.T. A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity. Hum. Mol. Genet., 2005, 14(13), 1745-1751. (Pubitemid 41430097)
19. Ross, K.A.; Bigham, A.W.; Edwards, M.; Gozdzik, A.; Suarez- Kurtz, G.; Parra, E.J. Worldwide allele frequency distribution of four polymorphisms associated with warfarin dose requirements. J. Hum. Genet., 2010, 55(9), 582-589.
20. Miners, J.O.; Birkett, D.J. Cytochrome P4502C9: an enzyme of major importance in human drug metabolism. Br. J. Clin. Pharmacol., 1998, 45(6), 525-538. (Pubitemid 28270907)
21. Rettie, A.E.; Jones, J.P. Clinical and toxicological relevance of CYP2C9: drug-drug interactions and pharmacogenetics. Annu. Rev. Pharmacol. Toxicol., 2005, 45, 477-494. (Pubitemid 40267790)
22. Rettie, A.E.; Wienkers, L.C.; Gonzalez, F.J.; Trager, W.F.; Korzekwa, K.R. Impaired (S)-warfarin metabolism catalysed by the R144C allelic variant of CYP2C9. Pharmacogenetics, 1994, 4(1), 39-42. (Pubitemid 24106122)
23. Sullivan-Klose, T.H.; Ghanayem, B.I.; Bell, D.A.; Zhang, Z.Y.; Kaminsky, L.S.; Shenfield, G.M.; Miners, J.O.; Birkett, D.J.; Goldstein, J.A. The role of the CYP2C9-Leu359 allelic variant in the tolbutamide polymorphism. Pharmacogenetics, 1996, 6(4), 341-349. (Pubitemid 26288624)
24. Kamali, F.; Pirohamed, M. The future prospects of pharmacogenetics in oral anticoagulation therapy. Br. J. Clin. Pharmacol., 2006, 61(6), 746-751. (Pubitemid 43794805)
25. Gage, B.F.; Lesko, L.J. Pharmacogenetics of warfarin: regulatory, scientific, and clinical issues. J. Thromb. Thrombo., 2008, 25(1), 45-51.
26. Takahashi, H.; Echizen, H. Pharmacogenetics of warfarin elimination and its clinical implications. Clin. Pharmacokinet., 2001, 40(8), 587-603. (Pubitemid 32758581)
27. Daly, A.K. Pharmacogenomics of anticoagulants: steps toward personal dosage. Genome. Med., 2009, 1, 10.
28. Peyvandi, F.; Spreafico, M.; Siboni, S.M.; Moia, M.; Mannucci, P.M. CYP2C9 genotypes and dose requirements during the induction phase of oral anticoagulant therapy. Clin. Pharmacol. Ther., 2004, 75(3), 198-203. (Pubitemid 38314869)
29. Spreafico, M.; Lodigiani, C.; van Leeuwen, Y.; Pizzotti, D.; Rota, L.L.; Rosendaal, F.; Mannucci, P.M., Peyvandi, F. Effects of CYP2C9 and VKORC1 on INR variations and dose requirements during initial phase of anticoagulant therapy. Pharmacogenomics, 2008, 9(9), 1237-50.
30. Klein, T.E.; Altman, R.B.; Eriksson, N.; Gage, B.F.; Kimmel, S.E.; Lee, M.T.; Limdi, N.A.; Page, D.; Roden, D.M.; Wagner, M.J.; Caldwell, M.D.; Johnson, J.A. Estimation of the warfarin dose with clinical and pharmacogenetic data. N. Engl. J. Med. 2009, 360, 753-764.
31. Daly, A.K. Pharmacogenetics and human genetic polymorphisms. Biochem. J. 2010, 429, 435-449.
32. Jonas, D.E.; McLeod, H.L. Genetic and clinical factors relating to warfarin dosing. Trends. Pharmacol. Sci., 2009, 30, 375-386
33. Flockhart, D.A.; O'Kane, D.; Williams, M.S.; Watson, M.S.; Flockhart, D.A.; Gage, B.; Gandolfi, R.; King, R.; Lyon, E.; Nussbaum, R.; O'Kane, D.; Schulman, K.; Veenstra, D.; Williams, M.S.; Watson M.S. Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin. Genet. Med., 2008, 10(2), 139-150. (Pubitemid 351271726)
34. Tanizawa, A.; Fujimori, A.; Fujimori, Y.; Pommier, Y. Comparison of topoisomerase I inhibition, DNA damage, and cytotoxicity of camptothecin derivatives presently in clinical trials. J. Natl. Cancer. Inst., 1994, 86(11), 836-842. (Pubitemid 24164661)
35. Slatter, J.G.; Su, P.; Sams, J.P.; Schaaf, L.J.; Wienkers, L.C. Bioactivation of the anticancer agent CPT-11 to SN38 by human hepatic microsomal carboxylesterases and the in vitro assessment of potential drug interactions. Drug Metab. Dispos., 1997, 25, 1157-1164. (Pubitemid 27446586)
36. Iyer, L.; King, C.D.; Whitington, P.F.; Green, M.D.; Roy, S.K.; Tephly, T.R.; Coffman, B.L.; Ratain, M.J. Genetic predisposition to the metabolism of irinotecan (CPT-11). Role of uridine diphosphate glucuronosyltransferase isoform 1A1 in the glucuronidation of its active metabolite (SN38) in human liver microsomes. J. Clin. Invest., 1998, 101, 847-854. (Pubitemid 28096082)
37. Ando, Y.; Saka, H.; Asai, G.; Sugiura, S.; Shimokata, K.; Kamataki, T. UGT1A1 genotypes and glucuronidation of SN-38, the active metabolite of irinotecan. Ann. Oncol., 1998, 9, 845-847. (Pubitemid 28440442)
38. Iyer, L.; Hall, D.; Das, S.; Mortell, M.A.; Ramirez, J.; Kim, S.; Di, Rienzo, A.; Ratain, M.J. Phenotype-genotype correlation of in vitro SN-38 (active metabolite of irinotecan) and bilirubin glucuronidation in human liver tissue with UGT1A1 promoter polymorphism. Clin. Pharmacol. Ther., 1999, 65, 576-582. (Pubitemid 29237332)
39. Van der Bol, J.M.; De Jong, F.A.; Van Schaik, R.H.; Sparreboom, A.; Van Fessem, M.A.; Van de Geijn, F.E.; Van Daele, P.L.; Verweij, J.; Sleijfer, S.; Mathijssen, R.H. Effects of mannose-binding lectin polymorphisms on irinotecan-induced febrile neutropenia. Oncologist, 2010, 15(10), 1063-1072.
40. Innocenti, F.; Undevia, S.D.; Iyer, L.; Chen, P.X.; Das, S.; Kocherginsky, M.; Karrison, T.; Janisch, L.; Ramirez, J.; Rudin, C.M.; Vokes, E.E.; Ratain, M.J. Genetic variants in the UDPglucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan. J. Clin. Oncol., 2004, 22, 1382-1388. (Pubitemid 41103619)
41. Wasserman, E.; Mijara, A.; Lokiec, F.; Goldwasser, F.; Trivin, F.; Mahjoubi, M.; Misset, J.L.; Cvitkovic, E. Severe CPT-11 toxicity in patients with Gilbert's syndrome: two case reports. Ann. Oncol., 1997, 10, 1049-1051. (Pubitemid 27475739)
42. Tukey, R.H.; Strassburg, C.P. Human UDPglucuronosyltransferases: metabolism, expression, and disease. Annu. Rev. Pharmacol. Toxicol., 2000, 40, 581-616. (Pubitemid 30340694)
43. King, C.D.; Green, M.D.; Rios, G.R.; Coffman, B.L.; Owens, I.S.; Bishop, W.P.; Tephly, T.R. The glucuronidation of exogenous and endogenous compounds by stably expressed rat and human UDPglucuronosyltransferase 1.1. Arch. Biochem. Biophys., 1996, 332(1), 92-100. (Pubitemid 26286137)
44. Bock, K.W.; Forster, A.; Gschaidmeier, H.; Bruck, M.; Munzel, P.; Schareck, W.; Fournel-Gigleux, S.; Burchell, B. Paracetamol glucuronidation by recombinant rat and human phenol UDPglucuronosyltransferases. Biochem. Pharmacol., 1993, 45(9), 1809-1814. (Pubitemid 23150970)
45. Ohno, A.; Saito, Y.; Hanioka, N.; Jinno, H.; Saeki, M.; Ando, M.; Ozawa, S.; Sawada, J. Involvement of human hepatic UGT1A1, UGT2B4, and UGT2B7 in the glucuronidation of carvedilol. Drug Metab. Dispos., 2004, 32(2), 235-239. (Pubitemid 38176941)
46. Takekuma, Y.; Takenaka, T.; Yamazaki, K.; Ueno, K.; Sugawara, M. Stereoselective metabolism of racemic carvedilol by UGT1A1 and UGT2B7, and effects of mutation of these enzymes on glucuronidation activity. Biol. Pharm. Bull., 2007, 30(11), 2146-2153. (Pubitemid 350097059)
47. Katoh, M.; Matsui, T.; Yokoi, T. Glucuronidation of antiallergic drug, Tranilast: identification of human UDPglucuronosyltransferase isoforms and effect of its phase I metabolite. Drug Metab. Dispos., 2007, 35(4), 583-589. (Pubitemid 46513260)
48. Chouinard, S.; Tessier, M.; Vernouillet, G.; Gauthier, S.; Labrie, F.; Barbier, O.; Belanger, A. Inactivation of the pure antiestrogen fulvestrant and other synthetic estrogen molecules by UDPglucuronosyltransferase 1A enzymes expressed in breast tissue. Mol. Pharmacol., 2006, 69(3), 908-920. (Pubitemid 43363865)
49. Borlak, J.; Gasparic, A.; Locher, M.; Schupke, H.; Hermann, R. NGlucuronidation of the antiepileptic drug retigabine: results from studies with human volunteers, heterologously expressed human UGTs, human liver, kidney, and liver microsomal membranes of Crigler-Najjar type II. Metabolism, 2006, 55(6), 711-721.
50. Mano, Y.; Usui, T.; Kamimura, H. The UDPglucuronosyltransferase 2B7 isozyme is responsible for gemfibrozil glucuronidation in the human liver. Drug Metab. Dispos., 2007, 35(11), 2040-2044. (Pubitemid 350005193)
51. Kerdpin, O.; Knights, K.M.; Elliot, D.J.; Miners, J.O. In. vitro characterisation of human renal and hepatic frusemide glucuronidation and identification of the UDP-glucuronosyltransferase enzymes involved in this pathway. Biochem. Pharmacol., 2008, 76(2), 249-257.
52. Ghosal, A.; Hapangama, N.; Yuan, Y.; Achanfuo-Yeboah, J.; Iannucci, R.; Chowdhury, S.; Alton, K.; Patrick, J.E.; Zbaida, S. Identification of human UDP-glucuronosyltransferase enzyme(s) responsible for the glucuronidation of ezetimibe (Zetia). Drug Metab. Dispos., 2004, 32(3), 314-320. (Pubitemid 38263889)
53. Hagenauer, B.; Salamon, A.; Thalhammer, T.; Kunert, O.; Haslinger, E.; Klingler, P.; Senderowicz, A.M.; Sausville, E.A.; Jager, W. In vitro glucuronidation of the cyclin-dependent kinase inhibitor flavopiridol by rat and human liver microsomes: involvement of UDP-glucuronosyltransferases 1A1 and 1A9. Drug Metab. Dispos., 2001, 29(4 Pt 1), 407-414. (Pubitemid 32275554)
54. Watanabe, Y.; Nakajima, M.; Ohashi, N.; Kume, T.; Yokoi, T. Glucuronidation of etoposide in human liver microsomes is specifically catalyzed by UDP-glucuronosyltransferase 1A1. Drug Metab. Dispos., 2003, 31(5), 589-595. (Pubitemid 36444168)
55. Wen, Z.; Tallman, M.N.; Ali, S.Y.; Smith, P.C. UDPglucuronosyltransferase 1A1 is the principal enzyme responsible for etoposide glucuronidation in human liver and intestinal microsomes: structural characterization of phenolic and alcoholic glucuronides of etoposide and estimation of enzyme kinetics. Drug Metab. Dispos., 2007, 35(3), 371-380. (Pubitemid 46333899)
56. Mojarrabi, B.; Mackenzie, P.I. The human UDP glucuronosyltransferase, UGT1A10, glucuronidates mycophenolic acid. Biochem. Biophys. Res. Commun., 1997, 238(3), 775-778. (Pubitemid 27472651)
57. Miles, K.K.; Stern, S.T.; Smith, P.C.; Kessler, F.K.; Ali, S.; Ritter, J.K. An investigation of human and rat liver microsomal mycophenolic acid glucuronidation: evidence for a principal role of UGT1A enzymes and species differences in UGT1A specificity. Drug Metab. Dispos., 2005, 33(10), 1513-1520. (Pubitemid 41324000)
58. Monaghan, G.; Ryan, M.; Seddon, R.; Hume, R.; Burchell, B. Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet, 1996, 347(9001), 578-581. (Pubitemid 26070740)
59. Beutler E.; Gelbart T.; Demina A. Racial variability in the UDPglucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? Proc. Natl. Acad. Sci. U S A, 1998, 95(14), 8170-8174. (Pubitemid 28326085)
60. Bosma, P.J.; Chowdhury, J.R.; Bakker, C.; Gantla, S.; de Boer, A.; Oostra, B.A.; Lindhout, D.; Tytgat, G.N.; Jansen, P.L.; Oude Elferink, R.P. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N. Engl. J. Med., 1995, 333(18), 1171-1175.
61. Kaniwa, N.; Kurose, K.; Jinno, H.; Tanaka-Kagawa, T.; Saito, Y.; Saeki, M.; Sawada, J.; Tohkin, M.; Hasegawa, R. Racial variability in haplotype frequencies of UGT1A1 and glucuronidation activity of a novel single nucleotide polymorphism 686C>T (P229L) found in an African-American. Drug Metab. Dispos., 2005, 33(3), 458-465. (Pubitemid 40279948)
62. Araki, K.; Fujita, K.; Ando, Y.; Nagashima, F.; Yamamoto, W.; Endo, H. Miya, T.; Kodama, K.; Narabayashi, M.; Sasaki, Y. Pharmacogenetic impact of polymorphisms in the coding region of the UGT1A1 gene on SN-38 glucuronidation in Japanese patients with cancer. Cancer Sci., 2006, 97, 1255-1259. (Pubitemid 44430653)
63. Jada, S.R.; Lim, R.; Wong, C.I.; Shu, X.; Lee, S.C.; Zhou, Q.; Goh, B.C.; Chowbay, B. Role of UGT1A1*6, UGT1A1*28 and ABCG2 c.421C>A polymorphisms in irinotecan-induced neutropenia in Asian cancer patients. Cancer Sci., 2007, 98, 1461-1467. (Pubitemid 47241771)
64. Hoskins, J.M.; Goldberg, R.M.; Qu, P.; Ibrahim, J.G.; McLeod, H.L. UGT1A1*28 genotype and irinotecan-induced neutropenia: dose matters. J. Natl. Cancer Inst., 2007, 99(17), 1290-1295. (Pubitemid 47394168)
65. Schulz, C.; Boeck, S.; Heinemann, V.; Stemmler, H. UGT1A1 genotyping: a predictor of irinotecan-associated side effects and drug efficacy? Anti-Cancer Drugs, 2009, 20, 867-879.
66. Georgitsi, M.; Zukic, B.; Pavlovic, S.; Patrinos, G.P. Transcriptional regulation and pharmacogenomics. Pharmacogenomics, 2011, In press.
67. Coulthard, S.; Hogarth, L. The thiopurines: an update. Invest. New. Drugs., 2005, 23(6), 523-532. (Pubitemid 43162471)
68. Lennard, L. The clinical pharmacology of 6-mercaptopurine. Eur. J. Clin. Pharmacol., 1992, 43(4), 329-339.
69. Maybaum, J., Mandel, H.G. Differential chromatid damage induced by 6-thioguanine in CHO cells. Exp. Cell. Res., 1981, 135(2), 465-468. (Pubitemid 12220377)
70. Maybaum, J.; Mandel, H.G. Unilateral chromatid damage: A new basis for 6-thioguanine cytotoxicity. Cancer Res., 1983, 43(8), 3852-3856. (Pubitemid 13077716)
71. Christie, N.T.; Drake, S.; Meyn, R.E.; Nelson, J.A. 6- Thioguanineinduced DNA damage as a determinant of cytotoxicity in cultured chinese hamster ovary cells. Cancer Res., 1984, 44(9), 3665-3671. (Pubitemid 14041572)
72. Pan, B.F.; Nelson, J.A. Characterization of the DNA damage in 6- thioguanine-treated cells. Biochem. Pharmacol., 1990, 40(5), 1063-1069. (Pubitemid 20259712)
73. Bodell, W.J. Molecular dosimetry of sister chromatid exchange induction in 9L cells treated with 6-thioguanine. Mutagenesis, 1991, 6(3), 175-177.
74. Weinshilboum, R. Inheritance and drug response. N. Engl. J. Med., 2003, 348(6), 529-537. (Pubitemid 36159889)
75. Kham, S.K.; Soh, C.K.; Aw, D.C.; Yeoh, A.E: TPMT*26 (208F-- >L), a novel mutation detected in a Chinese. Br. J. Clin. Pharmacol., 2009, 68, 120-123.
76. Krynetski, E.Y.; Krynetskaia, N.F.; Yanishevski, Y.; Evans, W.E. Methylation of mercaptopurine, thioguanine, and their nucleotide metabolites by heterologously expressed human thiopurine Smethyltransferase. Mol. Pharmacol., 1995, 47(6), 1141-1147.
77. Tai, H.L.; Krynetski, E.Y.; Yates, C.R.; Loennechen, T.; Fessing, M.Y.; Krynetskaia, N.F.; Evans, W.E. Thiopurine Smethyltransferase deficiency: two nucleotide transitions define the most prevalent mutant allele associated with loss of catalytic activity in Caucasians. Am. J. Hum. Genet., 1996, 58(4), 694-702. (Pubitemid 26086658)
78. Loennechen, T.; Yates, C.R.; Fessing, M.Y.; Relling, M.V.; Krynetski, E.Y.; Evans, W.E. Isolation of a human thiopurine Smethyltransferase (TPMT) complementary DNA with a single nucleotide transition A719G (TPMT*3C) and its association with loss of TPMT protein and catalytic activity in humans. Clin. Pharmacol. Ther., 1998, 64(1), 46-51. (Pubitemid 28377329)
79. Krynetski, E.Y.; Schuetz, J.D.; Galpin, A.J.; Pui, C.H.; Relling, M.V.; Evans, W.E. A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase. Proc. Natl. Acad. Sci. U S A, 1995, 92(4), 949-953.
80. Yates, C.R.; Krynetski, E.Y.; Loennechen, T.; Fessing, M.Y.; Tai, H.L.; Pui, C.H.; Relling, M.V.; Evans, W.E: Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Ann. Intern. Med., 1997, 126, 608-614. (Pubitemid 27172187)
81. Spire-Vayron de la Moureyre, C.; Debuysere, H.; Mastain, B.; Vinner, E.; Marez, D.; Lo Guidice, J.M.; Chevalier, D.; Brique, S.; Motte, K.; Colombel, J.F.; Turck, D.; Noel, C.; Flipo, R.M.; Pol, A.; Lhermitte, M.; Lafitte, J.J.; Libersa, C.; Broly, F. Genotypic and phenotypic analysis of the polymorphic thiopurine Smethyltransferase gene (TPMT) in European population. Br. J. Pharmacol., 1998, 125(4), 879-887. (Pubitemid 28482633)
82. Yan, L.; Zhang, S.; Eiff, B.; Szumlanski, C.L.; Powers, M.; O'Brien, J.F.; Weinshilboum, R.M. Thiopurine methyltransferase polymorphic tandem repeat: genotype-phenotype correlation analysis. Clin. Pharmacol. Ther., 2000, 68(2), 210-219. (Pubitemid 30659176)
83. Alves, S.; Amorim, A.; Ferreira, F.; Prata, M.J. Pharmacogenetics and genomics: Influence of the variable number of tandem repeats located in the promoter region of the thiopurine methyltransferase gene on enzymatic activity. Clin. Pharmacol. Ther., 2001, 70, 165-174. (Pubitemid 32777769)
84. Dokmanovic, L.; Urosevic, J.; Janic, D.; Jovanovic, N.; Petrucev, B.; Tosic, N.; Pavlovic, S. Analysis of Thiopurine Smethyltransferase Polymorphism in the Population of Serbia and Montenegro and Mercaptopurine Therapy Tolerance in Childhood Acute Lymphoblastic Leukemia. Ther. Drug. Monit., 2006, 28, 800-806. (Pubitemid 44967661)
85. Fessing, M.Z.; Krynetski, E.Y.; Zambethi, G.P.; Evans, W.E. Functional characterization of the human thiopurin methyltransferase gene promoter. Eur. J. Biochem., 1998, 256, 510-517. (Pubitemid 28440416)
86. Spyre-Vayron de la Moureyre, C.; Debuysere, H.; Fazio, F.; Sergent, E.; Bernard, C.; Sabbagh, N.; Marez, D.; Lo Guidice, J.M.; D'halluin, J.C.; Broly, F. Characterization of variable number tandem repeat region in the thiopurine S-methyltransferase gene promoter. Pharmacogenetics, 1999, 9, 189-198. (Pubitemid 29359001)
87. Zukic, B.; Radmilovic, M.; Stojiljkovic, M.; Tosic, N.; Pourfarzad, F.; Dokmanovic, L.; Janic, D.; Colovic, N.; Philipsen, S.; Patrinos, G.P.; Pavlovic, S. Functional analysis of the role of the TPMT gene promoter VNTR polymorphism in TPMT gene transcription. Pharmacogenomics, 2010, 11, 547-557.
88. Otterness, D.; Szumlanski, C.; Lennard, L.; Klemetsdal, B.; Aarbakke, J.; Park-Hah, J.O.; Iven, H.; Schmiegelow, K.; Branum, E.; O'Brien, J.; Weinshilboum, R. Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms. Clin. Pharmacol. Ther., 1997, 62, 60-73. (Pubitemid 27327100)
89. Ng, S.B.; Buckingham, K.J.; Lee, C.; Bigham, A.W.; Tabor, H.K.; Dent, K.M.; Huff, C.D.; Shannon, P.T.; Jabs, E.W.; Nickerson, D.A.; Shendure, J.; Bamshad, M.J. Exome sequencing identifies the cause of a mendelian disorder. Nat. Genet., 2010, 42, 30-35.
90. Ashley, E.A.; Butte, A.J.; Wheeler, M.T.; Chen, R.; Klein, T.E.; Dewey, F.E.; Dudley, J.T.; Ormond, K.E.; Pavlovic, A.; Morgan, A.A.; Pushkarev, D.; Neff, N.F.; Hudgins, L.; Gong, L.; Hodges, L.M.; Berlin, D.S.; Thorn, C.F.; Sangkuhl, K.; Hebert, J.M.; Woon, M.; Sagreiya, H.; Whaley, R.; Knowles, J.W.; Chou, M.F.; Thakuria, J.V.; Rosenbaum, A.M.; Zaranek, A.W.; Church, G.M.; Greely, H.T.; Quake, S.R.; Altman, R.B. Clinical assessment incorporating a personal genome. Lancet, 2010, 375 (9725), 1525-1535.
91. Squassina, A.; Manchia, M.; Del Zompo, M. Pharmacogenomics of mood stabilizers in the treatment of bipolar disorder. Hum. Genomics Proteomics, 2010, 2010, 159761.
92. European Commission, DG Research; Summary report - Omics in personalized medicine. Workshop to explore the role of -omics in the development of personalised medicine; Brussels, 29-30 April 2010.