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DPYD polymorphisms in Native populations from the Brazilian Amazon: the absence of the variants in currently recommended clinical genotyping panels

Suarez-Kurtz G, Basta PC, Perini JAPharmacogenet Genomics 2026 · June 2026
Relevance score
7/10
Disease / domain
Fluoropyrimidine toxicity — *DPYD* variants in indigenous populations
Source
PubMed
PMID 42329750
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Gene–drug pair / mechanism

Absence of CPIC-recommended *DPYD* variants in Yanomami and Munduruku indigenous populations of Brazil

Summary

A study genotypes clinically relevant DPYD variants (rs3918290, rs55886062, rs67376798, rs75017182) in Yanomami and Munduruku indigenous populations of the Brazilian Amazon (>90% indigenous ancestry). Results show near-complete absence of these variants in these populations, revealing a major gap in current CPIC genotyping panels for this ethnic group. These data have direct implications for fluoropyrimidine dosing (5-FU, capecitabine) if these populations access oncological treatments.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Analysis

This study perfectly illustrates the equity problem in pharmacogenetics: DPYD genotyping panels were developed on European populations and fail to capture variants prevalent in other groups. The implication for fluoropyrimidine safety in underrepresented indigenous populations is direct. A strong argument for diversifying CPIC reference panels.

Why this score?

Impact 2/3Evidence 2/3Novelty 1/2Sample 1/1Publication 1/1

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 7/10

Keywords

DPYDfluoropyrimidinesindigenous populationsequityCPIC

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