TY  - JOUR
T1  - Pharmacogenomics and Ancestral Genetics in Colombia: An Analysis of All PharmGKB Drug Variant Annotations
A1  - David Wilson
A1  - Andrew Foster
A1  - Kevin Brooks
A1  - Daniel Hart
JF  - Specialty Journal of Pharmacognosy, Phytochemistry, and Biotechnology
JO  - Spec J Pharmacogn Phytochem Biotechnol
SN  - 3062-441X
Y1  - 2021
VL  - 1
IS  - 1
DO  - 10.51847/3wHgDGEBl1
SP  - 112
EP  - 122
N2  - This study aimed to map Colombia’s pharmacogenomic (PGx) landscape with respect to ancestry by combining all PharmGKB variant-drug annotations with local allele-frequency data, in order to measure clinically relevant differences among ancestral groups and identify gaps that limit fair access to precision medicine. We analyzed 4,462 PharmGKB variant annotations spanning 1994–2024, narrowing the dataset to 1,216 significant single-nucleotide polymorphisms (SNPs) reported in 552 studies. Allele frequencies were compiled for five Colombian populations: two largely African-descended (Palenque [PLQ], Chocó [CHG]) and three predominantly European-descended (ATQCES, ATQPGC, CLM) using the CÓDIGO database. Spearman correlation coefficients assessed similarities between population-specific PGx profiles, and SNPs with frequency differences exceeding 25 percentage points were cataloged. The global PGx literature is heavily skewed toward European ancestry, representing 51.5% of 651,532 participants, while African ancestry accounted for only 0.46% (n = 3,031). European-leaning Antioquian populations showed strong internal correlations (r² ≥ 0.90), whereas PLQ displayed weak or inverse correlations with these groups (r² = −0.20 to −0.02) and only minimal similarity with CHG (r² = 0.12). Among the SNPs, 28 were highly frequent in PLQ (>75%) but uncommon in Europeans (
UR  - https://galaxypub.co/article/pharmacogenomics-and-ancestral-genetics-in-colombia-an-analysis-of-all-pharmgkb-drug-variant-annota-nwysafrnkeadlad
ER  -