Summary
This large-scale genomic study identified protein quantitative trait loci for 90 cardiovascular proteins in over 30,000 individuals, generating 451 pQTLs across 85 proteins. The authors substantiated regulatory findings through mouse knockdown experiments and clinical trials, and used Mendelian randomization to identify 11 previously untargeted proteins with causal evidence of involvement in human disease. The work provides a genomic resource for precision studies of circulating proteins relevant to cardiovascular and metabolic health.
UK applicability
The findings are broadly applicable to UK biomedical research and may inform future clinical trial design and drug development strategies for cardiovascular disease. However, as a genomic mapping study in predominantly European ancestry populations, applicability to UK populations of non-European ancestry may require further investigation.
Key measures
Protein quantitative trait loci (pQTLs), trans-pQTL gene and regulatory designations, causal associations via Mendelian randomization
Outcomes reported
The study mapped protein quantitative trait loci (pQTLs) for 90 cardiovascular proteins across 30,931 individuals, identifying 451 pQTLs and 11 previously untargeted proteins with causal evidence of disease involvement. Findings were validated through mouse knockdown experiments and clinical trial evidence.
Topic tags
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