Exploratory experiment designed to discover new patterns targeting DPYD in human patients. Primary outcome: association between DPYD variants and adverse drug reactions
A retrospective genetic association study analyzing DPYD gene variants in 1254 patients treated with fluoropyrimidine-containing regimens to identify polymorphisms associated with adverse drug reactions (ADRs). The study compared two cohorts: cohort 1 with 982 patients experiencing gastrointestinal grade ≥2 and/or hematological grade ≥3 ADRs, and cohort 2 (control group) with 272 patients who did not require dose reduction, delay, or treatment discontinuation. Nine DPYD variants were screened using Real-Time PCR to assess their association with fluoropyrimidine toxicity. The goal was to identify additional DPYD polymorphisms beyond the classic deficient variants that could be used for pre-emptive screening to improve treatment safety.
Real-Time PCR analysis of DNA extracted from 3ml whole blood samples to genotype nine DPYD variants: c.496A>G, c.1236G>A/HapB3, c.1601G>A (DPYD4), c.1627A>G (DPYD5), c.1679T>G (DPYD13), c.1896T>C, c.1905+1G>A (DPYD2A), c.2194G>A (DPYD*6), and c.2846A>T. Univariate analysis was performed to assess association with toxicity.
identification of DPYD variants significantly associated with fluoropyrimidine ADRs that could be used for pre-emptive screening
statistical significance (p < 0.05) for association between DPYD variants and ADRs
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