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. 2019 May;105(5):1091-1094.
doi: 10.1002/cpt.1268. Epub 2018 Dec 4.

Pharmacogene Variation Consortium Gene Introduction: NUDT15

Jun J Yang  1 , Michelle Whirl-Carrillo  2 , Stuart A Scott  3   4 , Amy J Turner  5   6 , Matthias Schwab  7   8 , Yoichi Tanaka  9 , Guilherme Suarez-Kurtz  10 , Elke Schaeffeler  6   11 , Teri E Klein  2 , Neil A Miller  12   13 , Andrea Gaedigk  13   14
Affiliations

Pharmacogene Variation Consortium Gene Introduction: NUDT15

Jun J Yang et al. Clin Pharmacol Ther. 2019 May.
No abstract available

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Conflict of interest statement

A.J.T.'s efforts are supported in part by RPRD Diagnostics, an independent clinical laboratory offering pharmacogenetic testing services, including NUDT15; and S.A.S. is a paid employee of Sema4, a clinical laboratory that performs pharmacogenetic testing, including NUDT15. None of the other authors declare any conflicts of interest.

Figures

Figure 1
Figure 1
Allele nomenclature summary. The graph contains a graphical summary of all NUDT15 allelic variants described to date. Of the published variants now designated NUDT*1 through NUDT*19, eight have been published using star nomenclature (*1‐*6, *10, and *11); those designated *7 to *9 were named as such post hoc. Six novel haplotypes were designated *14 to *19. Red boxes indicate SNVs that confer an amino acid change; black boxes indicate SNVs in noncoding regions of unknown functional consequence or synonymous SNPs in coding regions. Gray shaded boxes indicate the gene regions not covered by sequencing. SNV rs IDs, their positions on the cDNA reference sequence, nucleotide changes, and impact (amino acid change, frameshift (fs), or stop codon (X)) within a haplotype are shown in the top panels and the right‐hand column. An extended figure with additional information, including references, and PharmVar IDs is provided as Supplemental Material .
See this image and copyright information in PMC

Comment in

References

    1. Gaedigk, A. et al The Pharmacogene Variation (PharmVar) Consortium: incorporation of the human cytochrome P450 (CYP) allele nomenclature database. Clin. Pharmacol. Ther. 103, 399–401 (2018). - PMC - PubMed
    1. Moriyama, T. et al NUDT15 polymorphisms alter thiopurine metabolism and hematopoietic toxicity. Nat. Genet. 48, 367–373 (2016). - PMC - PubMed
    1. Relling, M.V. et al Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for thiopurine dosing based on TPMT and NUDT15 genotypes: 2018 update. Clin. Pharmacol. Ther. 105, 1095–1105. - PMC - PubMed
    1. Yang, J.J. et al Inherited NUDT15 variant is a genetic determinant of mercaptopurine intolerance in children with acute lymphoblastic leukemia. J. Clin. Oncol. 33, 1235–1242 (2015). - PMC - PubMed
    1. Kalman, L.V. et al Pharmacogenetic allele nomenclature: international workgroup recommendations for test tesult teporting. Clin. Pharmacol. Ther. 99, 172–185 (2016). - PMC - PubMed

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