Language
English
Publication Date
10-1-2025
Journal
Nature Genetics
DOI
10.1038/s41588-025-02335-7
PMID
40968291
PMCID
PMC13192283
PubMedCentral® Posted Date
5-22-2026
PubMedCentral® Full Text Version
Author MSS
Abstract
Large biobanks, such as the UK Biobank (UKB), enable massive phenome by genome-wide association studies that elucidate genetic etiology of complex traits. However, individuals from diverse genetic ancestry groups are often excluded from association analyses due to concerns about population structure introducing false positive associations. Here, we generate mixed model associations and meta-analyses across genetic ancestry groups, inclusive of a larger fraction of the UKB than previous efforts, to produce freely-available summary statistics for 7,266 traits. We build a quality control and analysis framework informed by genetic architecture. Overall, we identify 14,676 significant loci (p < 5 × 10−8) in the meta-analysis that were not found in the EUR genetic ancestry group alone, including novel associations for example between CAMK2D and triglycerides. We also highlight associations from ancestry-enriched variation, including a known pleiotropic missense variant in G6PD associated with several biomarker traits. We release these results publicly alongside FAQs that describe caveats for interpretation of results, enhancing available resources for interpretation of risk variants across diverse populations.
Keywords
Humans, Genome-Wide Association Study, Biological Specimen Banks, United Kingdom, Polymorphism, Single Nucleotide, Genetic Predisposition to Disease, Phenotype, UK Biobank
Published Open-Access
yes
Recommended Citation
Karczewski, Konrad J; Gupta, Rahul; Kanai, Masahiro; et al., "Pan-UK Biobank Genome-Wide Association Analyses Enhance Discovery and Resolution of Ancestry-Enriched Effects" (2025). Faculty, Staff and Students Publications. 7111.
https://digitalcommons.library.tmc.edu/baylor_docs/7111