Association between inosine triphosphate pyrophosphohydrolase deficiency and azathioprine-related adverse drug reactions in the Chinese kidney transplant recipients

Fundamental and Clinical Pharmacology

Volumn 24, Issue 3, 2010, Pages 393-400

  Xin, Hua Wen ^a   Xiong, Hui ^a   Wu, Xiao Chun ^a   Li, Qing ^a   Xiong, Lei ^a   Yu, Ai Rong ^a  

^a WUHAN GENERAL HOSPITAL OF GUANGZHOU COMMAND   (China)

Author keywords

Adverse drug reactions; Azathioprine; Genetic polymorphisms; ITPA; Kidney transplantation; TPMT

Indexed keywords

AZATHIOPRINE; INORGANIC PYROPHOSPHATASE; INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE; THIOPURINE METHYLTRANSFERASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BLOOD TOXICITY; CHINESE; DRUG DOSE REDUCTION; DRUG WITHDRAWAL; FEMALE; FLU LIKE SYNDROME; GASTROINTESTINAL TOXICITY; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GRAFT VERSUS HOST REACTION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOSITY; HUMAN; KIDNEY TRANSPLANTATION; LIVER TOXICITY; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RISK FACTOR;

AGED; ASIAN CONTINENTAL ANCESTRY GROUP; AZATHIOPRINE; DRUG TOXICITY; FEMALE; GASTROINTESTINAL DISEASES; GENETIC VARIATION; GRAFT REJECTION; HEMATOLOGIC DISEASES; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; KIDNEY TRANSPLANTATION; MALE; MIDDLE AGED; PYROPHOSPHATASES; RETROSPECTIVE STUDIES;

EID: 77952555508     PISSN: 07673981     EISSN: 14728206     Source Type: Journal    
DOI: 10.1111/j.1472-8206.2009.00770.x     Document Type: Article

References (29)

1. Sumi S., Marinaki A.M., Arenas M. et al. Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency. Hum. Genet. (2002) 111 360 367. (Pubitemid 36075062)
2. Marinaki A.M., Ansari A., Duley J.A. et al. Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPA). Pharmacogenetics (2004) 14 181 187. (Pubitemid 38373112)
3. Zelinkova Z., Derijks L.J., Stokkers P.C. et al. Inosine triphosphate pyrophosphatase and thiopurine s-methyltransferase genotypes relationship to azathioprine-induced myelosuppression. Clin. Gastroenterol. Hepatol. (2006) 4 44 49. (Pubitemid 43129523)
4. 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)
5. De Ridder L., Van Dieren J.M., Van Deventer H.J. et al. Pharmacogenetics of thiopurine therapy in paediatric IBD patients. Aliment. Pharmacol. Ther. (2006) 23 1137 1141. (Pubitemid 43779353)
6. Gearry R.B., Roberts R.L., Barclay M.L. et al. Lack of association between the ITPA 94C>A polymorphism and adverse effects from azathioprine. Pharmacogenetics (2004) 14 779 781.
7. Van Dieren J.M., Hansen B.E., Kuipers E.J. et al. Meta-analysis: Inosine triphosphate pyrophosphatase polymorphisms and thiopurine toxicity in the treatment of inflammatory bowel disease. Aliment. Pharmacol. Ther. (2007) 26 643 652.
8. Xin H.W., Xiong H., Wu X.C. et al. Relationships between thiopurine S-methyltransferase polymorphism and azathioprine-related adverse drug reactions in Chinese renal transplant recipients. Eur. J. Clin. Pharmacol. (2009) 65 249 255.
9. Holmes S.L., Turner B.M., Hirschhorn K. Human inosine triphosphatase: catalytic properties and population studies. Clin. Chim. Acta (1979) 97 143 153. (Pubitemid 10241614)
10. Lin S., McLennan A.G., Ying K. et al. Cloning expression and characterization of a human inosine triphosphate pyrophosphatase encoded by the itpa gene. J. Biol. Chem. (2001) 276 18695 18701. (Pubitemid 37411183)
11. Sumi S., Ueta A., Maeda T. et al. A Japanese case with inosine triphosphate pyrophosphohydrolase deficiency attributable to an enzymatic defect in white blood cells. J. Inherit. Metab. Dis. (2004) 27 277 278. (Pubitemid 38756344)
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. Indjova D., Shipkova M., Atanasova S. et al. Determination of thiopurine methyltransferase phenotype in isolated human erythrocytes using a new simple nonradioactive HPLC method. Ther. Drug Monit. (2003) 25 637 644. (Pubitemid 37238899)
14. Heller T., Oellerich M., Armstrong V.W., von Ahsen N. 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)
15. Maeda T., Sumi S., Ueta A. et al. Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population. Mol. Genet. Metab. (2005) 85 271 279. (Pubitemid 41074110)
16. Duley J.A., Simmonds H.A., Hopkinson D.A. et al. Inosine triphosphate pyrophosphohydrolase deficiency in a kindred with adenosine deaminase deficiency. Clin. Chim. Acta (1990) 188 243 252.
17. Holmes S.L., Turner B.M., Hirschhorn K. et al. Human inosine triphosphatase: catalytic properties and population studies. Clin. Chim. Acta (1979) 97 143 153. (Pubitemid 10241614)
18. Vanderheiden B.S. Purification and properties of human erythrocyte inosine triphosphate pyrophosphohydrolase. J. Cell. Physiol. (1979) 98 41 47.
19. Cao H., Hegele R.A. DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. J. Hum. Genet. (2002) 47 620 622. (Pubitemid 36083264)
20. Marsh S., King R.A., Ahluwalia R. et al. Distribution of ITPA P32T alleles in multiple world populations. J. Hum. Genet. (2004) 49 579 581. (Pubitemid 39506541)
21. Marsh S., Van Booven D.J. The increasing complexity of mercaptopurine pharmacogenomics. Clin. Pharmacol. Ther. (2009) 85 139 141.
22. von Ahsen N., Oellerich M., Armstrong VW. Characterization of the inosine triphosphatase (ITPA) gene: haplotype structure, haplotype-phenotype correlation and promoter function. Ther. Drug Monit. (2008) 30 16 22. (Pubitemid 351161094)
23. Stocco G., Cheok M.H., Crews K.R. 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.
24. Schwab M., Schaeffeler E., Marx C. et al. Shortcoming in the diagnosis of TPMT deficiency in a patient with Crohn's disease using phenotying only. Gastroenterology (2001) 121 498 499. (Pubitemid 32729396)
25. Schütz E., Gummert J., Mohr F. et al. Azathiopurine-induced myelosuppression in thiopurine methyltransferase deficient heart transplant recipient. Lancet (1993) 341 436. (Pubitemid 23048173)
26. Evans W.E., Hon Y.Y., Bomgaars L. et al. Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine. J. Clin. Oncol. (2001) 19 2293 2301. (Pubitemid 32366982)
27. Berkovitch M., Matsui D., Zipursky A. et al. Hapatotoxicity of 6-mercaptopurine in children acute lymphocytic leukemia: pharmacokinetic characteristics. Med. Pediatr. Oncol. (1996) 26 85 89. (Pubitemid 26010932)
28. Kader H.A., Wenner W.J., Telega G.W. et al. Normal thiopurine methyltransferase levels do not eliminate 6-mercaptopurine or azathioprine toxicity in children with inflammatory bowel disease. J. Clin. Gastroenterol. (2000) 30 409 413.
29. Dubinsky M.C., Lamoth S., Yang H.Y. et al. EG. Pharmacogenomics and metabolite measurement for 6-mercaptopurine therapy in inflammatory bowel disease. Gastroenterology (2000) 118 705 713. (Pubitemid 30171620)