ArticleBritish journal of clinical pharmacology2021
Haplotype structure defines effects of common DPYD variants c.85T > C (rs1801265) and c.496A > G (rs2297595) on dihydropyrimidine dehydrogenase activity: Implication for 5-fluorouracil toxicity.
Article in British journal of clinical pharmacology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 32 citations in OpenAlex.
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- Pharmacogenetic exploration of buprenorphine and related metabolites in umbilical cord blood.Toxicology reports · 2025Article
- Personalizing cancer therapy: the role of pharmacogenetics in overcoming drug resistance and toxicity.Molecular biology reports · 2025Review
- Lethal 5-Fluorouracil Toxicity in a Carrier ofJCO precision oncology · 2024Article
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- Approach for Phased Sequence-Based Genotyping of the Critical Pharmacogene Dihydropyrimidine Dehydrogenase (International journal of molecular sciences · 2024Article
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- GermlineeLife · 2024Article
- Assessing the Occurrence and Influence of Cancer Chemotherapy-Related Pharmacogenetic Alleles in the Chilean Population.Pharmaceutics · 2024Article
- GermlinebioRxiv : the preprint server for biology · 2024Article
- Clinical Implementation of Rare and NovelInternational journal of biological sciences · 2024Review
- Clinical implications of a gain-of-function genetic polymorphism in DPYD (rs4294451) in colorectal cancer patients treated with fluoropyrimidines.Frontiers in pharmacology · 2024Article
- Testing for Dihydropyrimidine Dehydrogenase Deficiency to Individualize 5-Fluorouracil Therapy.Cancers · 2022Review
- Genetic Variations of theJournal of personalized medicine · 2022Article
- Article
- Haplotype structure defines effects of common DPYD variants c.85T > C (rs1801265) and c.496A > G (rs2297595) on dihydropyrimidine dehydrogenase activity: Implication for 5-fluorouracil toxicity.British journal of clinical pharmacology · 2021Article
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Authors and funding
11 authors at 4 institutions in 4 countries.
Funding
Abstract
aimsThe aim of this study was to identify risk variants and haplotypes that impair dihydropyrimidine dehydrogenase (DPD) activity and are, therefore, candidate risk variants for severe toxicity to 5-fluorouracil (5-FU) chemotherapy.
methodsPlasma dihydrouracil/uracil (UH
resultsSignificantly lower UH
conclusionsBased on our data, DPYD-c.496A > G is a strong candidate risk allele for 5-FU toxicity. Our data suggest that DPYD-c.85T > C might be protective; however, the deleterious impacts of the linked alleles c.496A > G and c.1129-5923C > G likely limit this effect in patients. The possible protective effect of c.85T > C and linkage disequilibrium with c.496A > G and c.1129-5923C > G may have hampered prior association studies and should be considered in future clinical studies.
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