Titre
Participation bias in the UK Biobank distorts genetic associations and downstream analyses.
Type
article
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Auteur(s)
Schoeler, T.
Auteure/Auteur
Speed, D.
Auteure/Auteur
Porcu, E.
Auteure/Auteur
Pirastu, N.
Auteure/Auteur
Pingault, J.B.
Auteure/Auteur
Kutalik, Z.
Auteure/Auteur
Liens vers les personnes
Liens vers les unités
ISSN
2397-3374
Statut éditorial
Publié
Date de publication
2023-07
Volume
7
Numéro
7
Première page
1216
Dernière page/numéro d’article
1227
Peer-reviewed
Oui
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Publication Status: ppublish
Résumé
While volunteer-based studies such as the UK Biobank have become the cornerstone of genetic epidemiology, the participating individuals are rarely representative of their target population. To evaluate the impact of selective participation, here we derived UK Biobank participation probabilities on the basis of 14 variables harmonized across the UK Biobank and a representative sample. We then conducted weighted genome-wide association analyses on 19 traits. Comparing the output from weighted genome-wide association analyses (n <sub>effective</sub> = 94,643 to 102,215) with that from standard genome-wide association analyses (n = 263,464 to 283,749), we found that increasing representativeness led to changes in SNP effect sizes and identified novel SNP associations for 12 traits. While heritability estimates were less impacted by weighting (maximum change in h <sup>2</sup> , 5%), we found substantial discrepancies for genetic correlations (maximum change in r <sub>g</sub> , 0.31) and Mendelian randomization estimates (maximum change in β <sub>STD</sub> , 0.15) for socio-behavioural traits. We urge the field to increase representativeness in biobank samples, especially when studying genetic correlates of behaviour, lifestyles and social outcomes.
PID Serval
serval:BIB_01935437E212
PMID
Open Access
Oui
Date de création
2023-05-02T07:59:47.637Z
Date de création dans IRIS
2025-05-20T17:58:45Z
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Nom
37106081_BIB_01935437E212.pdf
Version du manuscrit
published
Licence
https://creativecommons.org/licenses/by/4.0
Taille
1.95 MB
Format
Adobe PDF
PID Serval
serval:BIB_01935437E212.P001
URN
urn:nbn:ch:serval-BIB_01935437E2120
Somme de contrôle
(MD5):567a8c7509e5ee9d6e0a01931d7221a4