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ESR1 Variants and Subcontinental Genomic Ancestry: Insights from the 1000 Genomes Project and Native American
Mariana M Scudeler1, Caíque Manóchio1,2, Bruno Miwa2
1Pathology, Genetics and Evolution Department, Biological and Natural Sciences Institute, Federal University of Triângulo Mineiro, Uberaba, Brazil.
Clinical Pharmacology and Therapeutics
|April 18, 2025
Summary
Genomic differences in the ESR1 gene exist across global populations, impacting breast cancer pharmacogenetics. This study analyzed ESR1 variants in diverse groups, revealing population-specific frequencies crucial for tailored treatments.
Area of Science:
- Genomics
- Pharmacogenetics
- Population Genetics
Background:
- The ESR1 gene is critical for breast cancer treatment efficacy.
- Genomic studies often underrepresent Native, African, and mixed populations.
- Population-specific variant frequencies can lead to disparities in clinical outcomes.
Purpose of the Study:
- To infer genomic subcontinental ancestry and allele frequencies of ESR1 gene variants.
- To analyze ESR1 variants in 2,427 individuals from 26 populations and 125 Peruvian Natives.
- To identify population-specific implications for breast cancer pharmacogenetics.
Main Methods:
- Genomic ancestry inference using linear regression.
- Allele frequency analysis of ESR1 gene variants.
- Bonferroni correction for statistical significance.
Main Results:
- Significant subcontinental differentiation in ESR1 variant frequencies across African, Asian, European, and Native populations.
- 102 associations found for 68 clinically relevant ESR1 variants (P < 0.01).
- Specific variants (rs9349799, rs2234693) showed distinct associations with different ancestral components.
Conclusions:
- Subcontinental differences in ESR1 variants are significant and impact pharmacogenetic applications.
- Whole-genome analysis is essential, as many relevant variants are intronic.
- Inclusion of underrepresented populations is vital for equitable and effective pharmacogenetic implementation.
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