Summary
This large consortium study presents a comprehensive proteomic and genetic characterisation of 54,219 UK Biobank participants, identifying 14,287 genetic associations across 2,923 plasma proteins, of which 81% are previously unreported. The work contextualises the genetic architecture of the plasma proteome through ancestry-specific analyses, trans-acting effects, and epistatic interactions, with particular focus on gastrointestinal, immune, and complement pathways. The resource facilitates mechanistic discovery, biomarker development, and therapeutic target validation across multiple disease domains.
Regional applicability
As a UK Biobank resource, these findings are directly applicable to understanding genetic and proteomic signatures of health and disease in the UK population and support the development of domestically relevant biomarkers and predictive models. The open-access nature of the resource enables UK researchers and healthcare organisations to interrogate proteomic associations with UK-specific health outcomes and policy priorities.
Key measures
Protein quantitative trait loci (pQTLs); genetic associations; ancestry-specific pQTL mapping; trans-pQTL effects; ligand–receptor interactions; pathway perturbations; epistatic effects; protein target effects on disease endpoints; proteomic disease signatures
Outcomes reported
The study characterised plasma proteomic profiles and identified genetic associations across 2,923 proteins in 54,219 UK Biobank participants. It mapped 14,287 protein quantitative trait loci (pQTLs), of which 81% were previously undescribed, and explored trans-acting genetic effects, epistatic interactions, and applications to biomarker and therapeutic development.
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