Translating DPYD Genotype into DPD Phenotype: Using the DPYD Gene Activity Score | Zendy

Linda M. Henricks | Zendy; Carin ATC Lunenburg | Zendy; Didier Meulendijks | Zendy; Hans Gelderblom | Zendy; Annemieke Cats | Zendy; Jesse J. Swen | Zendy; Jan H.M. Schellens | Zendy; HenkJan Guchelaar | Zendy

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Translating DPYD Genotype into DPD Phenotype: Using the DPYD Gene Activity Score

Author(s) -

Linda M. Henricks,

Carin ATC Lunenburg,

Didier Meulendijks,

Hans Gelderblom,

Annemieke Cats,

Jesse J. Swen,

Jan H.M. Schellens,

HenkJan Guchelaar

Publication year - 2015

Publication title -

pharmacogenomics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.541

H-Index - 91

eISSN - 1744-8042

pISSN - 1462-2416

DOI - 10.2217/pgs.15.70

Subject(s) - dpyd , dihydropyrimidine dehydrogenase , genotype , single nucleotide polymorphism , pharmacogenetics , haplotype , phenotype , pharmacology , medicine , biology , fluorouracil , oncology , genetics , gene , cancer , thymidylate synthase

The dihydropyrimidine dehydrogenase enzyme (DPD, encoded by the gene DPYD) plays a key role in the metabolism of fluoropyrimidines. DPD deficiency occurs in 4–5% of the population and is associated with severe fluoropyrimidine-related toxicity. Several SNPs in DPYD have been described that lead to absent or reduced enzyme activity, including DPYD*2A, DPYD*13, c.2846A>T and c.1236G>A/haplotype B3. Since these SNPs differ in their effect on DPD enzyme activity, a differentiated dose adaption is recommended. We propose the gene activity score for translating DPYD genotype into phenotype, accounting for differences in functionality of SNPs. This method can be used to standardize individualized fluoropyrimidine dose adjustments, resulting in optimal safety and effectiveness.

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