Fine-scale population structure and widespread conservation of genetic effect sizes between human groups across traits

Understanding genetic differences between populations is essential for avoiding confounding in genome-wide association studies and improving polygenic score (PGS) portability. We developed a statistical pipeline to infer fine-scale Ancestry Components and applied it to UK Biobank data. Ancestry Components identify population structure not captured by widely used principal components, improving stratification correction for geographically correlated traits. To estimate the similarity of genetic effect sizes between groups, we developed ANCHOR, which estimates changes in the predictive power of an existing PGS in distinct local ancestry segments. ANCHOR infers highly similar (estimated correlation 0.98 ± 0.07) effect sizes between UK Biobank participants of African and European ancestry for 47 of 53 quantitative phenotypes, suggesting that gene-environment and gene-gene interactions do not play major roles in poor cross-ancestry PGS transferability for these traits in the United Kingdom, and providing optimism that shared causal mutations operate similarly in different populations.

Authors

Institutions

Publication Details

Journal
Nature Genetics
Published
2025-02-01
DOI
https://doi.org/10.1038/s41588-024-02035-8
Citations
45
Primary Topic
Genetic Associations and Epidemiology
Type
article
Field-Weighted Citation Impact
79.96

Funders

Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Fine-scale population structure and widespread conservation of genetic effect sizes between human groups across traits

Lino A. F. Ferreira, Daniel J. Lawson, Sile Hu, Jonathan Marchini et al.
45 citations
Nature Genetics
Genetic Associations and Epidemiology
79.96
article

Fine-scale population structure and widespread conservation of genetic effect sizes between human groups across traits

Lino A. F. Ferreira, Daniel J. Lawson, Sile Hu, Jonathan Marchini, Simon Myers, Sinan Shi, Garrett Hellenthal
article en
45 citations

Abstract

Understanding genetic differences between populations is essential for avoiding confounding in genome-wide association studies and improving polygenic score (PGS) portability. We developed a statistical pipeline to infer fine-scale Ancestry Components and applied it to UK Biobank data. Ancestry Components identify population structure not captured by widely used principal components, improving stratification correction for geographically correlated traits. To estimate the similarity of genetic effect sizes between groups, we developed ANCHOR, which estimates changes in the predictive power of an existing PGS in distinct local ancestry segments. ANCHOR infers highly similar (estimated correlation 0.98 ± 0.07) effect sizes between UK Biobank participants of African and European ancestry for 47 of 53 quantitative phenotypes, suggesting that gene-environment and gene-gene interactions do not play major roles in poor cross-ancestry PGS transferability for these traits in the United Kingdom, and providing optimism that shared causal mutations operate similarly in different populations.

Nature GeneticsVol. 57(2)
Centre for Human Genetics (GB), Regeneron (United States) (US), University of Bristol (GB), University of Oxford (GB), Novo Nordisk (Finland) (FI), Novo Nordisk (United Kingdom) (GB), University College London (GB)
Wellcome
No poverty
Openalex Percentile: Top 0%
Genetic Associations and Epidemiology
79.96
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.