Determination of inosine triphosphate pyrophosphatase phenotype in human red blood cells using HPLC

Therapeutic Drug Monitoring

Volumn 34, Issue 4, 2012, Pages 477-480

  Citterio Quentin, Antony ^a,b   Salvi, Jean Paul ^a   Boulieu, Roselyne ^a,b  

^a UNIVERSITÉ LYON 1   (France)

^b EDOUARD HERRIOT HOSPITAL   (France)

Author keywords

HPLC; ITPase; phenotype

Indexed keywords

AZATHIOPRINE; INOSINE DIPHOSPHATE; INOSINE PHOSPHATE; INOSINE TRIPHOSPHATE; INOSINE TRIPHOSPHATE PYROPHOSPHATASE; UNCLASSIFIED DRUG;

ACCURACY; ANION EXCHANGE CHROMATOGRAPHY; ARTICLE; CELL LYSATE; CONCENTRATION (PARAMETERS); ENZYME ACTIVITY; ERYTHROCYTE; FEMALE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYDROPHOBICITY; IONIC STRENGTH; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL;

AZATHIOPRINE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; ERYTHROCYTES; HUMANS; INOSINE TRIPHOSPHATE; PHENOTYPE; PYROPHOSPHATASES;

EID: 84863822807     PISSN: 01634356     EISSN: 15363694     Source Type: Journal    
DOI: 10.1097/FTD.0b013e31825c2703     Document Type: Article

References (23)

1. Shipkova M, Franz J, Abe M, et al. Association between adverse effects under azathioprine therapy and inosine triphosphate pyrophosphatase activity in patients with chronic inflammatory bowel disease. Ther Drug Monit. 2011;33:321-328.
2. Atanasova S, Shipkova M, Svinarov D, et al. Analysis of ITPA phenotype-genotype correlation in the Bulgarian population revealed a novel gene variant in exon 6. Ther Drug Monit. 2007;29:6-10. (Pubitemid 46279870)
3. Dorababu P, Nagesh N, Linga VG, et al. Epistatic interactions between thiopurine methyltransferase (TPMT) and inosine triphosphate pyrophosphatase (ITPA) variations determine 6-mercaptopurine toxicity in Indian children with acute lymphoblastic leukemia. Eur J Clin Pharmacol. 2012;68:379-387.
4. Marinaki AM, Ansari A, Duley JA, et al. Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase). Pharmacogenetics. 2004;14:181-187. (Pubitemid 38373112)
5. Stocco G, Cheok MH, Crews KR, et al. Genetic polymorphism of inosine triphosphate pyrophosphatase is a determinant of mercaptopurine metabolism and toxicity during treatment for acute lymphoblastic leukemia. Clin Pharmacol Ther. 2009;85:164-172.
6. von Ahsen N, Armstrong VW, Behrens C, et al. Association of inosine triphosphatase 94C>A and thiopurine S-methyltransferase deficiency with adverse events and study drop-outs under azathioprine therapy in a prospective Crohn disease study. Clin Chem. 2005;51:2282-2288. (Pubitemid 41692571)
7. Xiong H, Xin HW, Wu XC, et al. Association between inosine triphosphate pyrophosphohydrolase deficiency and azathioprine-related adverse drug reactions in the Chinese kidney transplant recipients. Fund Clin Pharmacol. 2009;24:393-400.
8. Zabala-Fernandez W, Barreiro-de Acosta M, Echarri A, et al. A pharmacogenetics study of TPMT and ITPA genes detects a relationship with side effects and clinical response in patients with inflammatory bowel disease receiving Azathioprine. J Gastrointest Liver Dis. 2011;20:247-253.
9. Zelinkova Z, Derijks LJ, Stokkers PC, et al. Inosine triphosphate pyrophosphatase and thiopurine s-methyltransferase genotypes relationship to azathioprine-induced myelosuppression. Clin Gastroenterol Hepatol. 2006;4:444-449.
10. Heller T, Oellerich M, Armstrong VW, et al. Rapid detection of ITPA 94C>A and IVS2 + 21A>C gene mutations by real-time fluorescence PCR and in vitro demonstration of effect of ITPA IVS2 + 21A>C polymorphism on splicing efficiency. Clin Chem. 2004;50:2182-2184. (Pubitemid 39425868)
11. Lin S, McLennan AG, Ying K, et al. Cloning, expression, and characterization of a human inosine triphosphate pyrophosphatase encoded by the itpa gene. J Biol Chem. 2001;276:695-701.
12. Shipkova M, Lorenz K, Oellerich M, et al. Measurement of erythrocyte inosine triphosphate pyrophosphohydrolase (ITPA) activity by HPLC and correlation of ITPA genotype-phenotype in a Caucasian population. Clin Chem. 2006;52:240-247. (Pubitemid 43185485)
13. Sumi S, Marinaki AM, Arenas M, et al. Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency. Hum Genet. 2002;111:360-367. (Pubitemid 36075062)
14. Allorge D, Hamdan R, Broly F, et al. ITPA genotyping test does not improve detection of Crohn's disease patients at risk of azathioprine/6- mercaptopurine induced myelosuppression. Gut. 2005;54:565. (Pubitemid 40395509)
15. De Ridder L, Van Dieren JM, Van Deventer HJ, et al. Pharmacogenetics of thiopurine therapy in paediatric IBD patients. Aliment Pharmacol Ther. 2006;23:1137-1141. (Pubitemid 43779353)
16. Gearry RB, Roberts RL, Barclay ML, et al. Lack of association between the ITPA 94C>A polymorphism and adverse effects from azathioprine. Pharmacogenetics. 2004;14:779-781. (Pubitemid 39552794)
17. Hindorf U, Lindqvist M, Peterson C, et al. Pharmacogenetics during standardised initiation of thiopurine treatment in inflammatory bowel disease. Gut. 2006;55:1423-1431. (Pubitemid 44476786)
18. Kurzawski M, Dziewanowski K, Lener A, et al. TPMT but not ITPA gene polymorphism influences the risk of azathioprine intolerance in renal transplant recipients. Eur J Clin Pharmacol. 2009;65:533-540.
19. Duley JA, Simmonds HA, Hopkinson DA, et al. Inosine triphosphate pyrophosphohydrolase deficiency in a kindred with adenosine deaminase deficiency. Clin Chim Acta. 1990;188:243-252. (Pubitemid 20176149)
20. Boulieu R, Sauviat M, Dervieux T, et al. Phenotype determination of thiopurine methyltransferase in erythrocytes by HPLC. Clin Chem. 2001;47:956-958. (Pubitemid 32398056)
21. Bierau J, Lindhout M, Baker JA. Pharmacogenetic significance of inosine triphosphatase. Pharmacogenomics. 2007;8:1221-1228. (Pubitemid 47578231)
22. Stepchenkova EI, Tarakhovskaya ER, Spitler K, et al. Functional study of the P32T ITPA variant associated with drug sensitivity in humans. J Biol Mol. 2009;392:602-613.
23. Herting G, Barber K, Zappala MR, et al. Quantitative in vitro and in vivo characterisation of the human P32T mutant ITPase. Biochim Biophys Acta. 2010;1802:262-274.