DPYD polymorphisms in Native populations from the Brazilian Amazon: the absence of the variants in currently recommended clinical genotyping panels
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?
Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 7/10
Keywords
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