Quantifying direct genetic signal captured by principal component adjustment

Contemporary genomic studies of complex traits, such as genome-wide association studies and polygenic index (PGI) analyses, frequently include the principal components of the genotype matrix (PCs) among their adjustments for population stratification. In this paper, we explore the extent to which we may be discounting direct genetic effects by adjusting for PCs. Using family-based models that control for parental genotype in the UK Biobank, we find that PCs capture direct genetic effects on all nine phenotypes we tested. These effects are generally small, and extremely similar to the population effects of the same PCs. This suggests that PC adjustment indeed diminishes, albeit very slightly, signals of direct genetic effects. Furthermore, we find that adjusting for PCs does not meaningfully alter estimates of the effect of the current PGIs within families. Our findings suggest that, for the phenotypes and populations studied here, direct genetic effects captured by PCs are modest, and adjusting for PCs does not seem to lead to meaningful attenuation in PGI estimates.

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Publication Details

Journal
Proceedings of the National Academy of Sciences
Published
2026-04-30
DOI
https://doi.org/10.1073/pnas.2525790123
Primary Topic
Genetic Associations and Epidemiology
Type
article
Field-Weighted Citation Impact
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article

Quantifying direct genetic signal captured by principal component adjustment

Sam Trejo, Ramina Sotoudeh, Arbel Harpak, Dalton Conley
Proceedings of the National Academy of Sciences
Genetic Associations and Epidemiology
article

Quantifying direct genetic signal captured by principal component adjustment

Sam Trejo, Ramina Sotoudeh, Arbel Harpak, Dalton Conley
article en

Abstract

Contemporary genomic studies of complex traits, such as genome-wide association studies and polygenic index (PGI) analyses, frequently include the principal components of the genotype matrix (PCs) among their adjustments for population stratification. In this paper, we explore the extent to which we may be discounting direct genetic effects by adjusting for PCs. Using family-based models that control for parental genotype in the UK Biobank, we find that PCs capture direct genetic effects on all nine phenotypes we tested. These effects are generally small, and extremely similar to the population effects of the same PCs. This suggests that PC adjustment indeed diminishes, albeit very slightly, signals of direct genetic effects. Furthermore, we find that adjusting for PCs does not meaningfully alter estimates of the effect of the current PGIs within families. Our findings suggest that, for the phenotypes and populations studied here, direct genetic effects captured by PCs are modest, and adjusting for PCs does not seem to lead to meaningful attenuation in PGI estimates.

Proceedings of the National Academy of SciencesVol. 123(18)
National Bureau of Economic Research (US), Princeton University (US), Yale University (US), New York Genome Center (US), The University of Texas at Austin (US)
Openalex Percentile: Top 13%
Genetic Associations and Epidemiology
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