The SCALLOP consortium have recently completed a combined study that looks at protein quantitative trait loci (pQTL) for 90 cardiovascular proteins in over 30,000 individuals, identifying 467 pQTLs for 85 proteins: Folkerson et al, “Genomic evaluation of circulating proteins for drug target characterisation and precision medicine“, bioRxiv2020.04.03.023804 – link
The article is in the final stages of review for a major journal, but the authors have made the pre-print available on-line at bioRxiv so that the scientific community can access the important findings from this study as soon as possible.
Genome-wide meta-analysis of 85 cardiovascular-related proteins (Olink CVD I panel) in 30,931 subjects, data combined from 14 studies
primary cis-pQTLs identified for 75 proteins (88%), trans-pQTLs identified for 73 proteins (86%)
very high % of proteins with cis-pQTLs indicates robust specificity of protein detection method
large number of primary trans-pQTLs (269), which have lower effects on protein levels, aided by large SCALLOP discovery sample size
pQTLs used in combination with other information to evaluate known drug targets, and suggest new target candidates or repositioning opportunities, underpinned by:
causality assessment using Mendelian randomization