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Cross-Population Effect Heterogeneity

Definition
AI-generated

Cross-population effect heterogeneity describes differences in the estimated (or true) causal effect of a variant or locus on a trait between ancestry groups—distinct from discovering different loci altogether (genetic heterogeneity) or from statistical artifacts of LD and tagging.

Topics
Population genetics
Related
Ancestry Genetic Heterogeneity Multi-Ancestry Fine-Mapping

Why it matters in GWAS

Trans-ancestry meta-analyses must decide whether to assume homogeneous effects; heterogeneity affects which loci replicate, how summary statistics are combined, and how well polygenic scores transfer. Loci with population-specific causal alleles can yield unique biological insight.

Example usage

"We tested cross-population effect heterogeneity to identify loci with ancestry-specific effect sizes."

Ancestry Genetic Heterogeneity Multi-Ancestry Fine-Mapping Polygenic Risk Score Portability Trans-Ancestry GWAS
Related-term network

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References

  • Koyama S, et al. (2024). Population-specific putative causal variants shape quantitative traits. Nat Genet.
  • Shi H, et al. (2021). Population-specific causal disease effect sizes in functionally important regions impacted by selection. Nat Commun.
  • Kuchenbaecker K, Navoly G. (2026). Ancestral diversity in complex disease genetics: from discovery to translation. Nat Rev Genet. https://doi.org/10.1038/s41576-025-00921-3
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