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Pharmacogenetic Variation and Its Clinical Relevance in a Latin American Rural Population
Jordi Olloquequi1,2, Patricia Castro-Santos3, Roberto Díaz-Peña2,4
1Departament de Bioquímica i Fisiologia, Facultat de Farmàcia i Ciències de l'Alimentació, Universitat de Barcelona, 08028 Barcelona, Spain.
International Journal of Molecular Sciences
|October 14, 2022
Summary
This study analyzed a Chilean genome-wide dataset, revealing unique gene variant frequencies and highlighting the importance of considering ancestry in pharmacogenetic research for diverse populations.
Area of Science:
- Genomics
- Pharmacogenetics
- Population Genetics
Background:
- Latin American populations are underrepresented in genomic studies of drug response and disease susceptibility.
- Understanding genetic variations in diverse populations is crucial for personalized medicine.
Purpose of the Study:
- To present a genome-wide Chilean dataset for pharmacogenetic analysis.
- To compare gene variant frequencies in Chileans with global populations.
- To identify ancestry-specific genetic markers in a Latin American population.
Main Methods:
- Utilized the Illumina Global Screening Array for a genome-wide Chilean dataset from Talca.
- Compared allele frequencies with data from the 1000 Genomes Project.
- Analyzed single-nucleotide polymorphisms (SNPs) for associations with drug response and ancestry.
Main Results:
- Identified four SNPs (rs2819742, rs2631367, rs1063320, rs1042522) with low prevalence in Chileans compared to other global populations.
- Found significant differences in two markers (rs1719247, rs738409) between Mapuche ancestry groups.
- These variants are associated with various diseases and drug responses (e.g., metformin, statins).
Conclusions:
- The study provides a pharmacogenetic profile for an understudied rural Latin American population.
- Pharmacogenetic studies in admixed populations require consideration of ancestry for improved accuracy.
- Highlights the relevance of pharmacogenomics for personalized treatment in diverse ancestries.
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