Participation bias in the UK Biobank distorts genetic associations and downstream analyses.
Détails
Télécharger: 37106081_BIB_01935437E212.pdf (1993.23 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY 4.0
Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_01935437E212
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Participation bias in the UK Biobank distorts genetic associations and downstream analyses.
Périodique
Nature human behaviour
ISSN
2397-3374 (Electronic)
ISSN-L
2397-3374
Statut éditorial
Publié
Date de publication
07/2023
Peer-reviewed
Oui
Volume
7
Numéro
7
Pages
1216-1227
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.
Mots-clé
Humans, Genome-Wide Association Study, Biological Specimen Banks, Phenotype, United Kingdom/epidemiology
Pubmed
Web of science
Open Access
Oui
Création de la notice
02/05/2023 8:59
Dernière modification de la notice
23/01/2024 7:20