Evidence map›Paper›PMID 40234401›Full record

ArticleNature communications2025

Correcting for volunteer bias in GWAS increases SNP effect sizes and heritability estimates.

Sjoerd van Alten, Benjamin W Domingue, Jessica Faul, Titus Galama, Andries T Marees

Abstract read
In one paragraph

Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. 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. Article
  5. Article
  6. Science and sensitivity in the study of not having sex.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  7. Genetics and Socioeconomic Status: Some Preliminary Evidence on Mechanisms.Journal of political economy microeconomics · 2025
    Article
  8. Article
  9. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Sjoerd van AltenVrije Universiteit Amsterdam, Amsterdam, Netherlands. s.j.d.van.alten@vu.nl.ORCID http://orcid.org/0000-0003-0602-8760
Benjamin W DomingueStanford University, California, US.
Jessica FaulUniversity of Michigan, Ann Arbor, US.
Titus GalamaVrije Universiteit Amsterdam, Amsterdam, Netherlands.
Andries T MareesVrije Universiteit Amsterdam, Amsterdam, Netherlands.

Funding

Enhancing engagement and participation of marginalized community residents in the UASU01AG077280 · NIA · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Arie Kapteyn · 2023 to 2026
$50.9M
Toward Next Generation Data on Health and Life Changes at Older Ages: Administrative Supplement to track the effects of the COVID-19 pandemic on American familiesU01AG054580 · NIA · UNIVERSITY OF SOUTHERN CALIFORNIA · PI KAPTEYN, ARIE · 2017 to 2022
$27.3M
Genotyping the Understanding America Study to generate novel opportunities for research on cognitive functioning and dementiaR01AG079554 · NIA · UNIVERSITY OF SOUTHERN CALIFORNIA · PI FAUL, JESSICA, GALAMA, TITUS JOHANNES · 2023 to 2025
$7.6M
Genetic Differences in the Causal Effect of Education Quantity and Quality on Cognitive Functioning and Dementia Diagnosis Later in LifeR01AG078522 · NIA · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Silvia Helena Barcellos · 2022 to 2026
$3.9M
Identifying gene-by-environment interplay in health behaviorR56AG058726 · NIA · UNIVERSITY OF SOUTHERN CALIFORNIA · PI GALAMA, TITUS JOHANNES · 2020 to 2020
$842k
EC | Horizon 2020 Framework Programme (EU Framework Programme for Research and Innovation H2020) ESSGN 101073237Nederlandse Organisatie voor Wetenschappelijk Onderzoek (Netherlands Organisation for Scientific Research) 016.VIDI.185.044NIA NIH HHS R01 AG078522NIA NIH HHS R01 AG079554NIA NIH HHS R56 AG058726NIA NIH HHS U01 AG054580NIA NIH HHS U01 AG077280U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) R01AG078522U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) R01AG079554U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) R56AG058726U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) RF1055654
6 · The paper itself

Abstract

Selection bias in genome-wide association studies (GWASs) due to volunteer-based sampling (volunteer bias) is poorly understood. The UK Biobank (UKB), one of the largest and most widely used cohorts, is highly selected. Using inverse probability (IP) weights we estimate inverse probability weighted GWAS (WGWAS) to correct GWAS summary statistics in the UKB for volunteer bias. Our IP weights were estimated using UK Census data - the largest source of population-representative data - made representative of the UKB's sampling population. These weights have a substantial SNP-based heritability of 4.8% (s.e. 0.8%), suggesting they capture volunteer bias in GWAS. Across ten phenotypes, WGWAS yields larger SNP effect sizes, larger heritability estimates, and altered gene-set tissue expression, despite decreasing the effective sample size by 62% on average, compared to GWAS. The impact of volunteer bias on GWAS results varies by phenotype. Traits related to disease, health behaviors, and socioeconomic status are most affected. We recommend that GWAS consortia provide population weights for their data sets, or use population-representative samples.

Indexed as

Genome-Wide Association StudyPolymorphism, Single NucleotideVolunteersBiological Specimen BanksHumansPhenotypeSelection BiasUnited Kingdom

Identifiers

PMID40234401
PMCPMC12000612

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.