A vital proteogenomic tool for drug target discovery
Researchers now use protein quantitative trait loci (pQTLs) to link genetic variation, proteins, and disease. pQTLs are locations in the genome that contain one or more genetic variants associated with circulating protein levels. Genetic variants that are close to or within the same gene that makes the protein are called cis-pQTLs. Variants that are located in a more distant genomic location, which therefore affect levels of the selected protein indirectly, are called trans-pQTLs.
When cis-pQTL data is combined with phenotypic data in a Mendelian Randomization (MR) analysis, it provides extremely strong evidence that the protein plays a causal role in the disease or biological process being studied, critically important for reliable drug target identification.
When cis-pQTL data is combined with phenotypic data in a Mendelian Randomization (MR) analysis, it provides strong evidence to assess whether or not the protein plays a causal role in the disease or biological process being studied.
This powerful approach is being rapidly adopted by the scientific community and has also resulted in a major international consortium dedicated to large-scale collaboration and pQTL data sharing. SCALLOP is an independent collaborative framework for the discovery and follow-up of genetic associations with proteins for researchers generating data using the Olink platform. The aim of the SCALLOP consortium is to identify novel molecular connections and protein biomarkers that are causal in diseases, and to date, 35 PIs from 28 research institutions have joined the effort, which now comprises summary level data for almost 70,000 patients and controls from 45 cohort studies.