Apr 6, 2020

Genomic evaluation of circulating proteins for drug target characterisation and precision medicine

BioRxiv : the Preprint Server for Biology
Lasse FolkersenLubitz

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. By mapping and replicating protein quantitative trait loci (pQTL) for 90 cardiovascular proteins in over 30,000 individuals, we identified 467 pQTLs for 85 proteins. The pQTLs were used in combination with other sources of information to evaluate known drug targets, and suggest new target candidates or repositioning opportunities, underpinned by a) causality assessment using Mendelian randomization, b) pathway mapping using trans-pQTL gene assignments, and c) protein-centric polygenic risk scores enabling matching of plausible target mechanisms to sub-groups of individuals enabling precision medicine.

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Mentioned in this Paper

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Cardinalis cardinalis
Phylogenetic Analysis
CARD8
CARD8 wt Allele
Adaptation
CARD8 gene
Species
Caspase Recruitment Domain-Containing Protein 8
Branching (Qualifier Value)

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