Pharmacogenomics and genetic ancestry in Colombia: a study on all variant drug annotations of PharmGKB.

ABSTRACT:

Background

To generate an ancestry-resolved pharmacogenomic (PGx) landscape for Colombia by integrating all PharmGKB variant-drug annotations with local allele-frequency data, thereby quantifying inter-ancestry differences of clinical relevance and exposing evidence gaps that hinder equitable precision medicine.

Methods

We conducted a cross-sectional analysis of 4,462 PharmGKB variant annotations (1994-2024), retaining 1,216 significant single-nucleotide polymorphisms (SNPs) reported in 552 studies. Allele frequencies were extracted for five Colombian populations: two predominantly African (Palenque [PLQ], Chocó [CHG]) and three predominantly European (ATQCES, ATQPGC, CLM), from the CÓDIGO database. Spearman correlations compared population-specific PGx profiles; SNPs with >

SUBMITTER: Acosta-Monterrosa AA 

PROVIDER: S-EPMC12425994 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature