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GWAS

Do polygenic scores work equally within one ancestry?

Mostafavi H, Harpak A, Agarwal I, et al. · eLife · 2020

Open access · cc by · source: Europe PMC

Even within a relatively homogeneous ancestry group, PGS prediction accuracy differs substantially across socio-economic and related strata.

Study at a glance

Design
Computational / modelling — Within-ancestry stratification of PGS accuracy in UK Biobank (education, height, BMI, etc.)
N
N=408434 · 408,434 UK Biobank participants passing QC; analyses often within White British strata
Population
UK Biobank participants of broadly similar genetic ancestry
Outcome
Within-ancestry variation in polygenic score prediction accuracy

Structured fields used in claim comparison tables when every cited study has a complete layer.

Key findings

Major within-ancestry differences in PGS accuracy among groups with similar genetic ancestry; accuracy depends on ascertainment/SES-related structure, not ancestry labels alone.

Methodology

Evaluated PGS prediction accuracy across strata in UK Biobank individuals of similar ancestry, focusing on traits like education, height, and BMI.

Limitations

Does not claim PGS are clinically actionable for all traits.

How this study connects

Role on claims

Each row is a claim on a concept or method page where this paper supports, challenges, or qualifies the statement. Roles are hand-checked — not a model guess.

  • SupportsGWASconcept

    Polygenic score accuracy can differ a lot among groups that share a broad ancestry label.

    Polygenic score accuracy can differ substantially among groups that share a broad ancestry label; performance tracks ascertainment and SES-related structure, not ancestry labels alone.

    Evidence for the claim as stated.

  • QualifiesGWASconcept

    Rare variants can create synthetic GWAS signals at common markers when clustered.

    Rare variants can collectively create synthetic genome-wide association signals at common markers when they are not extremely numerous and evenly spread—so a GWAS peak is not automatically a single common causal allele.

    Scope note — different question — PGS transportability, not signal synthesis

    Limits the claim's scope: a different population, assay, or outcome.

  • QualifiesGWASconcept

    Mendelian randomisation on gut taxa reports a limited set of microbiome–cancer links.

    Using genetic instruments for gut microbiota taxa, Mendelian randomisation reported eleven stringent microbiome-to-cancer associations (directions sometimes opposing across cancers for related taxa)—an MR application that depends on GWAS-quality instruments and their assumptions.

    Scope note — different question — PGS accuracy within ancestry, not MR cancer odds

    Limits the claim's scope: a different population, assay, or outcome.

  • SupportsGWASconcept

    Human PGS accuracy, liver eQTLs, rare-variant synthetic-signal theory, livestock/plant GWAS, and microbiome–cancer MR all live under a GWAS umbrella, but they answer different estimands. Pooling them as one “GWAS finding” erases species, trait, and method limits.

    Evidence for the claim as stated.

  • SupportsGWASconcept

    A genome-wide significant hit is not the same claim as a portable polygenic score or an MR causal estimate. Synthetic-signal work limits naive readings of peaks; PGS work limits naive portability; MR adds instrument assumptions on top of association.

    Evidence for the claim as stated.

  • Polygenic scores are not equally accurate even inside one ancestry label. In UK Biobank individuals of similar genetic ancestry, prediction accuracy for traits such as education, height and BMI differed across strata; accuracy tracked ascertainment and SES-related structure rather than ancestry labels alone.

    Evidence for the claim as stated.

  • What GWAS is for splits across these papers: predicting a trait with a score, mapping breeding-relevant loci, or explaining why a common-SNP hit might not be the causal allele. The UK Biobank PGS paper is about within-ancestry transport of scores; the soybean and Holstein papers are about loci and networks for agronomy; the rare-variant paper is a caution about interpreting the hit itself. A student who treats 'GWAS' as one deliverable will mash those aims together.

    Evidence for the claim as stated.

Open questions

Tensions this paper is part of

From concept pages' “where studies disagree.” Disagreement means the same question; scope means different assays, populations, or outcomes.

History

When this study was placed

Dated entries from the concept change log — when this paper was added or removed as support, challenge, or qualifier on a claim.

  1. 2026-09-14

    Removed as supporting evidence on GWAS

    Human liver eQTL mapping links common variants to expression of disease-relevant metabolic pathway genes, showing one route from GWAS-scale variation to molecular intermediates.

  2. 2026-09-14

    Placed as supporting evidence on GWAS

    Polygenic score accuracy can differ substantially among groups that share a broad ancestry label; performance tracks ascertainment and SES-related structure, not ancestry labels alone.

  3. 2026-09-14

    Placed as a scope qualifier on GWAS

    Rare variants can collectively create synthetic genome-wide association signals at common markers when they are not extremely numerous and evenly spread—so a GWAS peak is not automatically a single common causal allele.

  4. 2026-09-14

    Placed as a scope qualifier on GWAS

    Using genetic instruments for gut microbiota taxa, Mendelian randomisation reported eleven stringent microbiome-to-cancer associations (directions sometimes opposing across cancers for related taxa)—an MR application that depends on GWAS-quality instruments and their assumptions.

  5. 2026-09-14

    Placed as supporting evidence on GWAS

    A genome-wide significant hit is not the same claim as a portable polygenic score or an MR causal estimate. Synthetic-signal work limits naive readings of peaks; PGS work limits naive portability; MR adds instrument assumptions on top of association.

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Same topic cluster — not a recommendation engine.