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Identification of DPYD variants and estimation of uracil and dihydrouracil in a healthy Indian population - Supplementary File

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posted on 2022-11-23, 13:55 authored by Poornima Sivamani, Vishnu Eriyat, Sumith K Mathew, Ashish Singh, Rekha Aaron, Raju Titus Chacko, Anjana Joel, Ratna Prabha, Binu Susan Mathew

Background: 5-fluorouracil (5-FU) is a medicine used in cancer treatment. It

is eliminated from body by the enzyme DPD. Identifying deficiency in DPD before initiating 5-FU can

save patients from oral, intestinal, and bone marrow toxic effects. Methods: The uracil and dihydrouracil

(DHU, produced by DPD enzyme action) levels were measured and DPD gene (for identifying defects)

was sequenced in 100 healthy adults. Results: Participants with DPD gene sequence that is known to be

defective had higher plasma uracil levels and a low DHU-to-uracil ratio compared with those who did

not have a defective gene. Conclusion: Measuring plasma uracil and DHU-to-uracil ratio can help identify

people with defective DPD genes.