The study used data from 50,000 people in the UK Biobank
AstraZeneca (AZ) researchers have revealed thousands of associations between rare genetic variants and plasma proteins, which could improve future drug discovery research and treatment approaches.
Results from the study were collated using data from over 50,000 individuals in the UK Biobank.
Published in Nature, AZ researchers analysed the effects of rare genetic variants on over 3,000 proteins in the body and identified over 4,400 significant protein quantitative trait loci, which are gene variants associated with protein function essential to health.
Proteins are the functional units of cells, which have a number of important roles throughout the body and are controlled by genes contained on chromosomes.
In comparison to common genetic variants, rare variants produce stronger evidence and unique insights into the connection between genes and proteins and their roles in disease.
More than 75% of the protein quantitative trait loci had never been detected before and provided additional insight to a companion study to analyse common variants in a similar UK Biobank group.
Medicines that target genes or proteins linked to human disease are more likely to deliver clinically meaningful outcomes.
Findings from the study will enhance the ability to understand disease and discover new targets for drug discovery.
AZ’s findings from the study are being applied to further scientific understanding of disease mechanisms, potential off-target drug effects, novel target identification and biomarker discovery to accelerate drug discovery and development (R&D) within the company’s research and development pipeline.
Slavé Petrovski, vice president, Centre for Genomics Research, Discovery Sciences, R&D, AZ, said: “To successfully treat a disease, we benefit from understanding the underlying molecular cause. This research breaks new ground [by] showcasing connections between genetic variants and proteins that we have never seen before.
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