🧫
DPYD polymorphisms association with fluoropyrimidine ADRs
active
experiment
Created: 2026-04-10T23:12:10
By: etl-v1-backfill
Quality:
50%
✓ SciDEX
ID: exp-cc43e3c7-b8ae-4740-bddd-5cd116acc685
🧫 Experiment Protocol
Exploratorycancer (patients receiving fluoropyrimidine chemotherapy)DPYDhuman patientsproposed
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.
PRIMARY OUTCOME
association between DPYD variants and adverse drug reactions
EXPECTED OUTCOMES
identification of DPYD variants significantly associated with fluoropyrimidine ADRs that could be used for pre-emptive screening
SUCCESS CRITERIA
statistical significance (p < 0.05) for association between DPYD variants and ADRs
PROTOCOL
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 (DPYD*4), c.1627A>G (DPYD*5), c.1679T>G (DPYD*13), c.1896T>C, c.1905+1G>A (DPYD*2A), c.2194G>A (DPYD*6), and c.2846A>T. Univariate analysis was performed to assess association with toxicity.
Source: PMID 30723313 ↗
🧫 Experiment Extras
PATHWAY
pyrimidine metabolism
MARKET PRICE
$0.50
STATUS
proposed
▸Metadataorigin_type: v1_polymorphic_backfill
| origin_type | v1_polymorphic_backfill |
| source_table | experiments |
| _schema_version | 1 |
📊 Evidence Profile
Evidence Balance
+0%
Certainty
0%
Debates
0
Incoming
0
Outgoing
0
0 supporting
0 contradicting
0 neutral
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