Literature DB >> 30447069

Clinical Pharmacogenetics Implementation Consortium Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2018 Update.

Mary V Relling1, Matthias Schwab2,3,4, Michelle Whirl-Carrillo5, Guilherme Suarez-Kurtz6, Ching-Hon Pui7, Charles M Stein8, Ann M Moyer9, William E Evans1, Teri E Klein4, Federico Guillermo Antillon-Klussmann10,11, Kelly E Caudle1, Motohiro Kato12, Allen E J Yeoh13,14, Kjeld Schmiegelow15,16, Jun J Yang1.   

Abstract

Thiopurine methyltransferase (TPMT) activity exhibits a monogenic codominant inheritance and catabolizes thiopurines. TPMT variant alleles are associated with low enzyme activity and pronounced pharmacologic effects of thiopurines. Loss-of-function alleles in the NUDT15 gene are common in Asians and Hispanics and reduce the degradation of active thiopurine nucleotide metabolites, also predisposing to myelosuppression. We provide recommendations for adjusting starting doses of azathioprine, mercaptopurine, and thioguanine based on TPMT and NUDT15 genotypes (updates on www.cpicpgx.org).
© 2018 The Authors Clinical Pharmacology & Therapeutics © 2018 American Society for Clinical Pharmacology and Therapeutics.

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Year:  2019        PMID： 30447069      PMCID： PMC6576267          DOI： 10.1002/cpt.1304

Source DB:  PubMed          Journal:  Clin Pharmacol Ther        ISSN： 0009-9236            Impact factor:   6.875


  38 in total

1.  Rational dosing of azathioprine and 6-mercaptopurine.

Authors:  W J Sandborn
Journal:  Gut       Date:  2001-05       Impact factor: 23.059

2.  Safe treatment of thiopurine S-methyltransferase deficient Crohn's disease patients with azathioprine.

Authors:  B A Kaskas; E Louis; U Hindorf; E Schaeffeler; J Deflandre; F Graepler; K Schmiegelow; M Gregor; U M Zanger; M Eichelbaum; M Schwab
Journal:  Gut       Date:  2003-01       Impact factor: 23.059

Review 3.  American Gastroenterological Association Institute technical review on corticosteroids, immunomodulators, and infliximab in inflammatory bowel disease.

Authors:  Gary R Lichtenstein; Maria T Abreu; Russell Cohen; William Tremaine
Journal:  Gastroenterology       Date:  2006-03       Impact factor: 22.682

Review 4.  Polymorphic variation in TPMT is the principal determinant of TPMT phenotype: A meta-analysis of three genome-wide association studies.

Authors:  R Tamm; R Mägi; R Tremmel; S Winter; E Mihailov; A Smid; A Möricke; K Klein; M Schrappe; M Stanulla; R Houlston; R Weinshilboum; Irena Mlinarič Raščan; A Metspalu; L Milani; M Schwab; E Schaeffeler
Journal:  Clin Pharmacol Ther       Date:  2017-02-01       Impact factor: 6.875

5.  Measurements of 6-thioguanine nucleotide levels with TPMT and NUDT15 genotyping in patients with Crohn's disease.

Authors:  Ji Hyeon Lee; Tae Jun Kim; Eun Ran Kim; Sung Noh Hong; Dong Kyung Chang; Li-Hwa Choi; Hye In Woo; Soo-Youn Lee; Young-Ho Kim
Journal:  PLoS One       Date:  2017-12-05       Impact factor: 3.240

6.  Identification of Patients With Variants in TPMT and Dose Reduction Reduces Hematologic Events During Thiopurine Treatment of Inflammatory Bowel Disease.

Authors:  Marieke J H Coenen; Dirk J de Jong; Corine J van Marrewijk; Luc J J Derijks; Sita H Vermeulen; Dennis R Wong; Olaf H Klungel; Andre L M Verbeek; Piet M Hooymans; Wilbert H M Peters; Rene H M te Morsche; William G Newman; Hans Scheffer; Henk-Jan Guchelaar; Barbara Franke
Journal:  Gastroenterology       Date:  2015-06-11       Impact factor: 22.682

7.  Further evidence that a variant of the gene NUDT15 may be an important predictor of azathioprine-induced toxicity in Chinese subjects: a case report.

Authors:  Z Ailing; Y Jing; L Jingli; X Yun; Z Xiaojian
Journal:  J Clin Pharm Ther       Date:  2016-07-06       Impact factor: 2.512

8.  Individualizing therapy with 6-mercaptopurine and 6-thioguanine related to the thiopurine methyltransferase genetic polymorphism.

Authors:  L Lennard; J S Lilleyman
Journal:  Ther Drug Monit       Date:  1996-08       Impact factor: 3.681

9.  NUDT15 R139C-related thiopurine leukocytopenia is mediated by 6-thioguanine nucleotide-independent mechanism in Japanese patients with inflammatory bowel disease.

Authors:  Ayumi Asada; Atsushi Nishida; Makoto Shioya; Hirotsugu Imaeda; Osamu Inatomi; Shigeki Bamba; Katsuyuki Kito; Mitsushige Sugimoto; Akira Andoh
Journal:  J Gastroenterol       Date:  2015-11-21       Impact factor: 7.527

10.  Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants.

Authors:  Elke Schaeffeler; Christine Fischer; Dierk Brockmeier; Dorothee Wernet; Klaus Moerike; Michel Eichelbaum; Ulrich M Zanger; Matthias Schwab
Journal:  Pharmacogenetics       Date:  2004-07
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  137 in total

Review 1.  Novel genetic and epigenetic factors of importance for inter-individual differences in drug disposition, response and toxicity.

Authors:  Volker M Lauschke; Yitian Zhou; Magnus Ingelman-Sundberg
Journal:  Pharmacol Ther       Date:  2019-01-22       Impact factor: 12.310

Review 2.  British Society of Gastroenterology consensus guidelines on the management of inflammatory bowel disease in adults.

Authors:  Christopher Andrew Lamb; Nicholas A Kennedy; Tim Raine; Philip Anthony Hendy; Philip J Smith; Jimmy K Limdi; Bu'Hussain Hayee; Miranda C E Lomer; Gareth C Parkes; Christian Selinger; Kevin J Barrett; R Justin Davies; Cathy Bennett; Stuart Gittens; Malcolm G Dunlop; Omar Faiz; Aileen Fraser; Vikki Garrick; Paul D Johnston; Miles Parkes; Jeremy Sanderson; Helen Terry; Daniel R Gaya; Tariq H Iqbal; Stuart A Taylor; Melissa Smith; Matthew Brookes; Richard Hansen; A Barney Hawthorne
Journal:  Gut       Date:  2019-09-27       Impact factor: 23.059

3.  Sources of Interindividual Variability.

Authors:  Yvonne S Lin; Kenneth E Thummel; Brice D Thompson; Rheem A Totah; Christi W Cho
Journal:  Methods Mol Biol       Date:  2021

4.  NUDT15 genotyping in Caucasian patients can help to optimise thiopurine treatment in patients with inflammatory bowel disease.

Authors:  Marieke J H Coenen
Journal:  Transl Gastroenterol Hepatol       Date:  2019-12-12

5.  Precision medicine and health disparities: The case of pediatric acute lymphoblastic leukemia.

Authors:  Wylie Burke; Kenneth Thummel
Journal:  Nurs Outlook       Date:  2019-05-14       Impact factor: 3.250

6.  Massively parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity.

Authors:  Chase C Suiter; Takaya Moriyama; Kenneth A Matreyek; Wentao Yang; Emma Rose Scaletti; Rina Nishii; Wenjian Yang; Keito Hoshitsuki; Minu Singh; Amita Trehan; Chris Parish; Colton Smith; Lie Li; Deepa Bhojwani; Liz Y P Yuen; Chi-Kong Li; Chak-Ho Li; Yung-Li Yang; Gareth J Walker; James R Goodhand; Nicholas A Kennedy; Federico Antillon Klussmann; Smita Bhatia; Mary V Relling; Motohiro Kato; Hiroki Hori; Prateek Bhatia; Tariq Ahmad; Allen E J Yeoh; Pål Stenmark; Douglas M Fowler; Jun J Yang
Journal:  Proc Natl Acad Sci U S A       Date:  2020-02-24       Impact factor: 11.205

Review 7.  The Clinical Pharmacogenetics Implementation Consortium: 10 Years Later.

Authors:  Mary V Relling; Teri E Klein; Roseann S Gammal; Michelle Whirl-Carrillo; James M Hoffman; Kelly E Caudle
Journal:  Clin Pharmacol Ther       Date:  2019-11-05       Impact factor: 6.875

8.  [Pharmacogenomics: precision tool in routine prescription].

Authors:  Bing Yu
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2020-11

9.  Effects of germline DHFR and FPGS variants on methotrexate metabolism and relapse of leukemia.

Authors:  Morten Tulstrup; Takaya Moriyama; Chuang Jiang; Marie Grosjean; Jacob Nersting; Jonas Abrahamsson; Kathrine Grell; Lisa Lyngsie Hjalgrim; Ólafur Gísli Jónsson; Jukka Kanerva; Bendik Lund; Stine Nygaard Nielsen; Rikke Linnemann Nielsen; Ulrik Overgaard; Petter Quist-Paulsen; Kaie Pruunsild; Goda Vaitkeviciene; Benjamin Ole Wolthers; Hui Zhang; Ramneek Gupta; Jun J Yang; Kjeld Schmiegelow
Journal:  Blood       Date:  2020-09-03       Impact factor: 22.113

10.  Childhood acute lymphoblastic leukemia mercaptopurine intolerance is associated with NUDT15 variants.

Authors:  Der-Shiun Wang; Chih-Hsiang Yu; Chien-Yu Lin; Ya-Hsuan Chang; Kai-Hsin Lin; Dong-Tsamn Lin; Shiann-Tarng Jou; Meng-Yao Lu; Hsiu-Hao Chang; Shu-Wha Lin; Hsuan-Yu Chen; Yung-Li Yang
Journal:  Pediatr Res       Date:  2020-03-27       Impact factor: 3.756
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