Evidence map›Paper›PMID 40902600›Full record

ArticleAmerican journal of human genetics2025

Evaluating multi-ancestry genome-wide association methods: Statistical power, population structure, and practical implications.

Julie-Alexia Dias, Tony Chen, Hua Xing, Xiaoyu Wang, Alex A Rodriguez, Ravi K Madduri, Peter Kraft, Haoyu Zhang

Erratum issuedAbstract read
In one paragraph

Article in American journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Review
  6. Type 2 diabetes mellitus.Nature reviews. Disease primers · 2026
    Review
  7. Article
  8. Review
  9. Admixture mapping identifies complex trait associations with local ancestry in themedRxiv : the preprint server for health sciences · 2025
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors.

Julie-Alexia DiasDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Tony ChenDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Hua XingDivision of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc., Rockville, MD, USA.
Xiaoyu WangDivision of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA; Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc., Rockville, MD, USA.
Alex A RodriguezData Science and Learning Division, Argonne National Laboratory, Lemont, IL, USA.
Ravi K MadduriData Science and Learning Division, Argonne National Laboratory, Lemont, IL, USA.
Peter KraftDivision of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: phillip.kraft@nih.gov.
Haoyu ZhangDivision of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: haoyu.zhang2@nih.gov.

Funding

General Studies of EpidemiologyZIACP010167 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI KRAFT, PETER · 2009 to 2025
$9.2M
Leveraging Prospective Cancer Epidemiology Cohorts and Novel Methods to Improve Polygenic Risk ScoresU01CA261339 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Fei Chen, David V Conti · 2021 to 2026
$5.2M
Interdisciplinary training: Statistical Genetics/Genomics and Computational BiologyT32GM135117 · NIGMS · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI Curtis Huttenhower, XIHONG LIN · 2020 to 2026
$3.1M
Intramural NIH HHS Z99 CA999999Intramural NIH HHS ZIA CP010167NCI NIH HHS U01 CA261339NIGMS NIH HHS T32 GM135117
6 · The paper itself

Abstract

The increasing availability of diverse biobanks has enabled multi-ancestry genome-wide association studies (GWASs) to enhance the discovery of genetic variants across traits and diseases. However, the choice of an optimal method remains debated, due to challenges in statistical power differences across ancestral groups and approaches to account for population structure. Two primary strategies exist: (1) pooled analysis, which combines individuals from all genetic backgrounds into a single dataset while adjusting for population stratification using principal components, increasing the sample size and statistical power but requiring careful control of population stratification; and (2) meta-analysis, which performs ancestry-group-specific GWASs and subsequently combines summary statistics, potentially capturing fine-scale population structure but facing limitations in handling admixed individuals. Using large-scale simulations with varying sample sizes and ancestry compositions, we compare these methods alongside real data analyses of eight continuous and five binary traits from the UK Biobank (N ≈ 324,000) and the All of Us Research Program (N ≈ 207,000). Our results demonstrate that pooled analysis generally exhibits better statistical power while effectively adjusting for population stratification. We further present a theoretical framework linking power differences to allele-frequency variations across populations. These findings, validated across both biobanks, highlight pooled analysis as a powerful and scalable strategy for multi-ancestry GWASs, improving genetic discovery while maintaining rigorous population structure control.

Indexed as

Genetics, PopulationGenome-Wide Association StudyBiological Specimen BanksComputer SimulationHumansPolymorphism, Single NucleotideSample SizeAll of Usgenome-wide association studiesGWASmeta-analysismulti-ancestrypopulation stratificationUK Biobank

Identifiers

PMID40902600
PMCPMC12416762

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.