New major study now available on-line
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“, bioRxiv 2020.04.03.023804 – 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.
Highlights
- 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
- pathway mapping
- protein-centric polygenic risk scores