Title : Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.

Pub. Date : 2016 Apr

PMID : 26804652






5 Functional Relationships(s)
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1 Dihydropyrimidine dehydrogenase (DPD) is the initial and rate-limiting enzyme in the catabolism of the pyrimidine bases uracil, thymine and the antineoplastic agent 5-fluorouracil. Uracil dihydropyrimidine dehydrogenase Homo sapiens
2 DPD activity was significantly associated with the plasma concentrations of uracil, the presence of a specific DPYD mutation (c.1905+1G>A) and the combined presence of three risk variants in DPYD (c.1905+1G>A, c.1129-5923C>G, c.2846A>T), but not with an altered uracil/dihydrouracil (U/UH2) ratio. Uracil dihydropyrimidine dehydrogenase Homo sapiens
3 DPD activity was significantly associated with the plasma concentrations of uracil, the presence of a specific DPYD mutation (c.1905+1G>A) and the combined presence of three risk variants in DPYD (c.1905+1G>A, c.1129-5923C>G, c.2846A>T), but not with an altered uracil/dihydrouracil (U/UH2) ratio. Uracil dihydropyrimidine dehydrogenase Homo sapiens
4 DPD activity was significantly associated with the plasma concentrations of uracil, the presence of a specific DPYD mutation (c.1905+1G>A) and the combined presence of three risk variants in DPYD (c.1905+1G>A, c.1129-5923C>G, c.2846A>T), but not with an altered uracil/dihydrouracil (U/UH2) ratio. Uracil dihydropyrimidine dehydrogenase Homo sapiens
5 Our studies showed that the endogenous levels of uracil and the U/UH2 ratio are poor predictors of an impaired DPD activity. Uracil dihydropyrimidine dehydrogenase Homo sapiens