Determining the driving factors shaping genetic architecture of complex traits in recently admixed populations
Kim, M. S.; Durvasula, A.; Zhang, X.
Show abstract
Understanding the genetic architecture of complex traits in admixed populations remains challenging due to heterogeneous genetic backgrounds and demographic histories. Mischaracterizing admixture can bias genetic association estimates and limit the generalizability of biomedical findings. Here, we systematically evaluate how evolutionary forces--including admixture, natural selection, and demographic history--jointly shape complex trait architecture and influence genome-wide association study (GWAS) outcomes using a simulation-based framework complemented by empirical analyses. We model five human admixture scenarios and vary the correlation between causal variant effect sizes and selection coefficients to reflect different trait-fitness relationships. This framework enables simulation of complex trait phenotypes with environmental variance, allowing comprehensive assessment of GWAS power and fine-mapping precision across evolutionary contexts. We find that GWAS power is strongly modulated by both genetic architecture and demographic history. Traits with weak coupling between fitness and effect size, such as anthropometric traits, exhibit higher GWAS power than traits under stronger negative selection, including early-onset diseases. Because rare variants contribute substantially to heritability yet are poorly captured by GWAS, bottlenecked populations with fewer rare variants show enhanced power. Despite large differences in GWAS power, fine-mapping precision remains relatively consistent across traits and populations, improving primarily in regions of high recombination. Empirical analyses of diverse cohorts, the All of Us Research Program, support these patterns. Our findings highlight how evolutionary and demographic forces shape the genetic basis of complex traits in admixed populations and underscore the need for tailored study designs to improve GWAS accuracy and fine-mapping performance in diverse cohorts.
Matching journals
The top 4 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- Evaluating Multi-Ancestry Genome-Wide Association Methods: Statistical Power, Population Structure, and Practical Implications 98%
- Disentangling selection on genetically correlated polygenic traits using whole-genome genealogies 97%
- Localizing components of shared transethnic genetic architecture of complex traits from GWAS summary data 97%
Similar papers in this journal
- Theoretical and empirical quantification of the accuracy of polygenic scores in ancestry divergent populations 97%
- Population-specific causal disease effect sizes in functionally important regions impacted by selection 97%
- Quantifying portable genetic effects and improving cross-ancestry genetic prediction with GWAS summary statistics 96%
Similar papers in this journal
- Leveraging functional genomic annotations and genome coverage to improve polygenic prediction of complex traits within and between ancestries 97%
- Improving fine-mapping by modeling infinitesimal effects 96%
- Adjusting for Common Variant Polygenic Scores Improves Yield in Rare Variant Association Analyses 96%
Similar papers in this journal
- Enhancing Portability of Trans-Ancestral Polygenic Risk Scores through Tissue-Specific Functional Genomic Data Integration 97%
- Mosaic patterns of selection in genomic regions associated with diverse human traits 97%
- From individuals to ancestries: towards attributing trait variation to haplotypes 97%
Similar papers in this journal
- Trait selection strategy in multi-trait GWAS: Boosting SNPs discoverability 96%
- Multivariate adaptive shrinkage improves cross-population transcriptome prediction for transcriptome-wide association studies in underrepresented populations 95%
- Inclusion of Variants Discovered from Diverse Populations Improves Polygenic Risk Score Transferability 95%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.