Influence of single-nucleotide polymorphisms on deferasirox C trough levels and effectiveness

Pharmacogenomics Journal

Volumn 15, Issue 3, 2015, Pages 263-271

  Cusato, J ^a   Allegra, S ^a   Massano, D ^b   De Francia, S ^b   Piga, A ^b   D'Avolio, A ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DEFERASIROX; ABC TRANSPORTER; ABCG2 PROTEIN, HUMAN; BENZOIC ACID DERIVATIVE; CYTOCHROME P450; GLUCURONOSYLTRANSFERASE; MULTIDRUG RESISTANCE PROTEIN; MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 2; TRIAZOLE DERIVATIVE; TUMOR PROTEIN;

ADOLESCENT; ARTICLE; BCRP1 GENE; CONTROLLED STUDY; CYP1A1 GENE; CYP1A2 GENE; CYP2D6 GENE; DRUG BLOOD LEVEL; DRUG EFFICACY; DRUG ELIMINATION; DRUG METABOLISM; FEASIBILITY STUDY; FEMALE; GENE; GENE LINKAGE DISEQUILIBRIUM; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MINIMUM PLASMA CONCENTRATION; MRP2 GENE; PHARMACOGENETICS; PREDICTIVE VALUE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RECEIVER OPERATING CHARACTERISTIC; RETROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; UGT1A1 GENE; UGT1A3 GENE; ADULT; ALLELE; COHORT ANALYSIS; GENETICS; GENOTYPE; IRON OVERLOAD; PROCEDURES;

ADULT; ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; BENZOATES; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; COHORT STUDIES; CYTOCHROME P-450 ENZYME SYSTEM; FEMALE; GENOTYPE; GLUCURONOSYLTRANSFERASE; HUMANS; IRON OVERLOAD; MALE; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; NEOPLASM PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; TRIAZOLES;

EID: 84929959628     PISSN: 1470269X     EISSN: 14731150     Source Type: Journal    
DOI: 10.1038/tpj.2014.65     Document Type: Article

References (57)

1. Cappellini MD, Cohen A, Piga A, Bejaoui M, Perrotta S, Agaoglu L et al. A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia. Blood 2006; 107: 3455-3462.
2. Nisbet-Brown E, Olivieri NF, Giardina PJ, Grady RW, Neufeld EJ, Sechaud R et al. Effectiveness and safety of ICL670 in iron-loaded patients with thalassaemia: a randomised, double-blind, placebo-controlled, dose-escalation trial. Lancet 2003; 361: 1597-1602.
3. Waldmeier F, Bruin GJ, Glaenzel U, Hazell K, Sechaud R, Warrington S et al. Pharmacokinetics, metabolism, and disposition of deferasirox in beta-thalassemic patients with transfusion-dependent iron overload who are at pharmacokinetic steady state. Drug Metab Dispos 2010; 38: 808-816.
4. Bruin GJ, Faller T, Wiegand H, Schweitzer A, Nick H, Schneider J et al. Pharmacokinetics, distribution, metabolism, and excretion of deferasirox and its iron complex in rats. Drug Metab Dispos 2008; 36: 2523-2538.
5. Taher A, Hershko C, Cappellini MD. Iron overload in thalassaemia intermedia: reassessment of iron chelation strategies. Br J Haematol 2009; 147: 634-640.
6. Chirnomas D, Smith AL, Braunstein J, Finkelstein Y, Pereira L, Bergmann AK et al. Deferasirox pharmacokinetics in patients with adequate versus inadequate response. Blood 2009; 114: 4009-4013.
7. Cappellini M, Giardina P, Porter J. Long-term safety and tolerability of the oncedaily, oral iron chelator deferasirox (Exjade®, ICL670) in patients with transfusional iron overload. Blood 2006; 108: 501a.
8. EPAR E. Exjade (deferasirox) Prescribing Information. Novartis Pharmaceuticals Corporation: East Hanover, NJ, 2007.
9. Bennett W, Ponticelli C, Piga A. Summanry of long-term renal safety data in transfused patients with secondary iron overload receiving deferasirox (ExjadeR, ICL670). Blood 2006; 108: 30b.
10. Cappellini MD. Exjade(R) (deferasirox, ICL670) in the treatment of chronic iron overload associated with blood transfusion. Ther Clin Risk Manag 2007; 3: 291-299.
11. Galanello R, Piga A, Alberti D, Rouan MC, Bigler H, Sechaud R. Safety, tolerability, and pharmacokinetics of ICL670, a new orally active iron-chelating agent in patients with transfusion-dependent iron overload due to beta-thalassemia. J Clin Pharmacol 2003; 43: 565-572.
12. Hershko C, Konijn AM, Nick HP, Breuer W, Cabantchik ZI, Link G. ICL670A: a new synthetic oral chelator: evaluation in hypertransfused rats with selective radioiron probes of hepatocellular and reticuloendothelial iron stores and in iron-loaded rat heart cells in culture. Blood 2001; 97: 1115-1122.
13. Nick H, Acklin P, Lattmann R, Buehlmayer P, Hauffe S, Schupp J et al. Development of tridentate iron chelators: from desferrithiocin to ICL670. Curr Med Chem 2003; 10: 1065-1076.
14. Mao Q, Unadkat JD. Role of the breast cancer resistance protein (ABCG2) in drug transport. AAPS J 2005; 7: E118-E133.
15. Iyer L, Das S, Janisch L, Wen M, Ramirez J, Karrison T et al. UGT1A128 polymorphism as a determinant of irinotecan disposition and toxicity. Pharmacogenomics J 2002; 2: 43-47.
16. De Francia S, Massano D, Piccione FM, Pirro E, Racca S, Di Carlo F et al. A new HPLC UV validated method for therapeutic monitoring of deferasirox in thalassaemic patients. J Chromatogr B Analyt Technol Biomed Life Sci 2012; 893-894: 127-133.
17. Lee JW, Kang HJ, Choi JY, Kim NH, Jang MK, Yeo CW et al. Pharmacogenetic study of deferasirox, an iron chelating agent. PLoS ONE 2013; 8: e64114.
18. Novartis Pharmaceuticals. Exjade (deferasirox) Tablets for Oral Suspension (Prescribing Information). Novartis Pharmaceuticals: East Hanover (NJ), 2006.
19. Brittenham GM, Badman DG. Noninvasive measurement of iron: report of an NIDDK workshop. Blood 2003; 101: 15-19.
20. Jensen PD. Evaluation of iron overload. Br J Haematol 2004; 124: 697-711.
21. Galanello R, Piga A, Forni GL, Bertrand Y, Foschini ML, Bordone E et al. Phase II clinical evaluation of deferasirox, a once-daily oral chelating agent, in pediatric patients with beta-thalassemia major. Haematologica 2006; 91: 1343-1351.
22. Chaudhary P, Pullarkat V. Deferasirox: appraisal of safety and efficacy in long-term therapy. J Blood Med 4: 101-110.
23. Lai YR, Liu RR, Li CF, Huang SL, Li Q, Habr D et al. Efficacy of Deferasirox for the treatment of iron overload in Chinese thalassaemia major patients: results from a prospective, open-label, multicentre clinical trial. Transfus Med 2013; 23: 389-396.
24. Naderi M, Sadeghi-Bojd S, Valeshabad AK, Jahantigh A, Alizadeh S, Dorgalaleh A et al. A prospective study of tubular dysfunction in pediatric patients with Beta thalassemia major receiving deferasirox. Pediatr Hematol Oncol 2013; 30: 748-754.
25. Galanello R, Origa R. Beta-thalassemia. Orphanet J Rare Dis 2010; 5: 11.
26. Cunningham MJ, Macklin EA, Neufeld EJ, Cohen AR. Complications of betathalassemia major in North America. Blood 2004; 104: 34-39.
27. Pennell DJ, Berdoukas V, Karagiorga M, Ladis V, Piga A, Aessopos A et al. Randomized controlled trial of deferiprone or deferoxamine in beta-thalassemia major patients with asymptomatic myocardial siderosis. Blood 2006; 107: 3738-3744.
28. Taher A, Sheikh-Taha M, Sharara A, Inati A, Koussa S, Ellis G et al. Safety and effectiveness of 100 mg/kg/day deferiprone in patients with thalassemia major: a two-year study. Acta Haematol 2005; 114: 146-149.
29. Neufeld EJ. Oral chelators deferasirox and deferiprone for transfusional iron overload in thalassemia major: new data, new questions. Blood 2006; 107: 3436-3441.
30. Sheth S. Iron chelation: an update. Curr Opin Hematol 2014; 21: 179-185.
31. Daar S, Pathare A, Nick H, Kriemler-Krahn U, Hmissi A, Habr D et al. Reduction in labile plasma iron during treatment with deferasirox, a once-daily oral ironchelator, in heavily iron-overloaded patients with beta-thalassaemia. Eur J Haematol 2009; 82: 454-457.
32. Schulz C, Heinemann V, Schalhorn A, Moosmann N, Zwingers T, Boeck S et al. UGT1A1 gene polymorphism: impact on toxicity and efficacy of irinotecan-based regimens in metastatic colorectal cancer. World J Gastroenterol 2009; 15: 5058-5066.
33. Kang TW, Kim HJ, Ju H, Kim JH, Jeon YJ, Lee HC et al. Genome-wide association of serum bilirubin levels in Korean population. Hum Mol Genet 19: 3672-3678.
34. Johnson AD, Kavousi M, Smith AV, Chen MH, Dehghan A, Aspelund T et al. Genome-wide association meta-analysis for total serum bilirubin levels. Hum Mol Genet 2009; 18: 2700-2710.
35. Sanna S, Busonero F, Maschio A, McArdle PF, Usala G, Dei M et al. Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. Hum Mol Genet 2009; 18: 2711-2718.
36. Rotunno M, Yu K, Lubin JH, Consonni D, Pesatori AC, Goldstein AM et al. Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression. PLoS One 2009; 4: e5652.
37. Wang S, Chanock S, Tang D, Li Z, Jedrychowski W, Perera FP. Assessment of interactions between PAH exposure and genetic polymorphisms on PAH-DNA adducts in African American, Dominican, and Caucasian mothers and newborns. Cancer Epidemiol Biomarkers Prev 2008; 17: 405-413.
38. Grover S, Talwar P, Gourie-Devi M, Gupta M, Bala K, Sharma S et al. Genetic polymorphisms in sex hormone metabolizing genes and drug response in women with epilepsy. Pharmacogenomics 11: 1525-1534.
39. Singh AP, Pant MC, Ruwali M, Shah PP, Prasad R, Mathur N et al. Polymorphism in cytochrome P450 1A2 and their interaction with risk factors in determining risk of squamous cell lung carcinoma in men. Cancer Biomark 8: 351-359.
40. B'Chir F, Pavanello S, Knani J, Boughattas S, Arnaud MJ, Saguem S. CYP1A2 genetic polymorphisms and adenocarcinoma lung cancer risk in the Tunisian population. Life Sci 2009; 84: 779-784.
41. Nakajima M, Yokoi T, Mizutani M, Kinoshita M, Funayama M, Kamataki T. Genetic polymorphism in the 5'-flanking region of human CYP1A2 gene: effect on the CYP1A2 inducibility in humans. J Biochem 1999; 125: 803-808.
42. Sachse C, Bhambra U, Smith G, Lightfoot TJ, Barrett JH, Scollay J et al. Polymorphisms in the cytochrome P450 CYP1A2 gene (CYP1A2) in colorectal cancer patients and controls: allele frequencies, linkage disequilibrium and influence on caffeine metabolism. Br J Clin Pharmacol 2003; 55: 68-76.
43. Luna-Tortos C, Fedrowitz M, Loscher W. Evaluation of transport of common antiepileptic drugs by human multidrug resistance-associated proteins (MRP1, 2 and 5) that are overexpressed in pharmacoresistant epilepsy. Neuropharmacology 58: 1019-1032.
44. Catterall WA. Molecular properties of brain sodium channels: an important target for anticonvulsant drugs. Adv Neurol 1999; 79: 441-456.
45. Lipkind GM, Fozzard HA. Molecular model of anticonvulsant drug binding to the voltage-gated sodium channel inner pore. Mol Pharmacol 78: 631-638.
46. Koopmann TT, Bezzina CR, Wilde AA. Voltage-gated sodium channels: action players with many faces. Ann Med 2006; 38: 472-482.
47. Meisler MH, O'Brien JE, Sharkey LM. Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. J Physiol 588 (Pt 11)1841-1848.
48. Popat RA, Van Den Eeden SK, Tanner CM, Kamel F, Umbach DM, Marder K et al. Coffee, ADORA2A, and CYP1A2: the caffeine connection in Parkinson's disease. Eur J Neurol 2011; 18: 756-765.
49. Tiwari AK, Deshpande SN, Lerer B, Nimgaonkar VL, Thelma BK. Genetic susceptibility to Tardive Dyskinesia in chronic schizophrenia subjects: V. Association of CYP1A2 1545 C4T polymorphism. Pharmacogenomics J 2007; 7: 305-311.
50. Grover S, Kukreti R. A systematic review and meta-analysis of the role of ABCC2 variants on drug response in patients with epilepsy. Epilepsia 54: 936-945.
51. Engstrom K, Ameer S, Bernaudat L, Drasch G, Baeuml J, Skerfving S et al. Polymorphisms in genes encoding potential mercury transporters and urine mercury concentrations in populations exposed to mercury vapor from gold mining. Environ Health Perspect 121: 85-91.
52. Gonzalez de Requena D, Calcagno A, Bonora S, Ladetto L, D'Avolio A, Sciandra M et al. Unexpected drug-drug interaction between tipranavir/ritonavir and enfuvirtide. AIDS 2006; 20: 1977-1979.
53. Canta F, Marrone R, Bonora S, D'Avolio A, Sciandra M, Sinicco A et al. Pharmacokinetics and hepatotoxicity of lopinavir/ritonavir in non-cirrhotic HIV and hepatitis C virus (HCV) co-infected patients. J Antimicrob Chemother 2005; 55: 280-281.
54. Chen G, Ramos E, Adeyemo A, Shriner D, Zhou J, Doumatey AP et al. UGT1A1 is a major locus influencing bilirubin levels in African Americans. Eur J Hum Genet 2012; 20: 463-468.
55. Grover S, Kukreti R. A systematic review and meta-analysis of the role of ABCC2 variants on drug response in patients with epilepsy. Epilepsia 2013; 54: 936-945.
56. Grover S, Talwar P, Gourie-Devi M, Gupta M, Bala K, Sharma S et al. Genetic polymorphisms in sex hormone metabolizing genes and drug response in women with epilepsy. Pharmacogenomics 2010; 11: 1525-1534.
57. Lin KM, Tsou HH, Tsai IJ, Hsiao MC, Hsiao CF, Liu CY et al. CYP1A2 genetic polymorphisms are associated with treatment response to the antidepressant paroxetine. Pharmacogenomics 2010; 11: 1535-1543.