Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals

Nat Metab. 2020 Oct;2(10):1135-1148. doi: 10.1038/s42255-020-00287-2. Epub 2020 Oct 16.

Abstract

Circulating proteins are vital in human health and disease and are frequently used as biomarkers for clinical decision-making or as targets for pharmacological intervention. Here, we map and replicate protein quantitative trait loci (pQTL) for 90 cardiovascular proteins in over 30,000 individuals, resulting in 451 pQTLs for 85 proteins. For each protein, we further perform pathway mapping to obtain trans-pQTL gene and regulatory designations. We substantiate these regulatory findings with orthogonal evidence for trans-pQTLs using mouse knockdown experiments (ABCA1 and TRIB1) and clinical trial results (chemokine receptors CCR2 and CCR5), with consistent regulation. Finally, we evaluate known drug targets, and suggest new target candidates or repositioning opportunities using Mendelian randomization. This identifies 11 proteins with causal evidence of involvement in human disease that have not previously been targeted, including EGF, IL-16, PAPPA, SPON1, F3, ADM, CASP-8, CHI3L1, CXCL16, GDF15 and MMP-12. Taken together, these findings demonstrate the utility of large-scale mapping of the genetics of the proteome and provide a resource for future precision studies of circulating proteins in human health.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter 1 / genetics
  • Asthma / genetics
  • Cardiovascular System / metabolism*
  • Chromosome Mapping*
  • Drug Delivery Systems*
  • Gene Knockdown Techniques
  • Genome-Wide Association Study
  • Genomics*
  • Humans
  • Inflammatory Bowel Diseases / genetics
  • Interleukin-1 Receptor-Like 1 Protein / genetics
  • Intracellular Signaling Peptides and Proteins / genetics
  • Linkage Disequilibrium
  • Mendelian Randomization Analysis
  • Protein Serine-Threonine Kinases / antagonists & inhibitors
  • Protein Serine-Threonine Kinases / genetics
  • Proteome
  • Quantitative Trait Loci
  • Receptors, CCR2 / genetics
  • Receptors, CCR5 / genetics

Substances

  • ABCA1 protein, mouse
  • ATP Binding Cassette Transporter 1
  • CCR2 protein, human
  • CCR5 protein, human
  • IL1RL1 protein, human
  • Interleukin-1 Receptor-Like 1 Protein
  • Intracellular Signaling Peptides and Proteins
  • Proteome
  • Receptors, CCR2
  • Receptors, CCR5
  • Trib1 protein, mouse
  • Protein Serine-Threonine Kinases