Research Press Release

Genetics: Mapping out the human plasma proteome


June 7, 2018

A genetic atlas of the human plasma proteome is reported in a paper published in this week’s Nature. The associations identified by this study between genetic variation and the levels of individual proteins may suggest new therapeutic targets and avenues to apply existing drugs to new diseases.

Blood plasma proteins are vital to various biological processes, including growth, repair, signalling, transport and fighting infection. They are important drug targets, and are frequently differentially regulated during disease. However, relatively little is known about the genetic factors that determine an individual’s plasma protein levels, with previous studies having been limited in scope.

Benjamin Sun, Adam Butterworth and colleagues studied short DNA strands that bind to specific target molecules - aptamers - to quantify 3,622 proteins in the blood plasma of 3,301 healthy individuals. Samples were taken from INTERVAL, a study of nearly 50,000 UK blood donors intended to improve NHS blood supplies by identifying the optimum interval between blood donations. The team identify 1,927 associations between regions of the genome and 1,478 proteins - 89% of which were previously unidentified. There is considerable overlap between these locations and regions that regulate gene expression, suggesting that protein levels are often, but not always, determined by levels of gene production.

In addition, the authors identify links between particular genetic variations from their study with previously identified regions that are associated with common diseases. Understanding the relationship between diseases, genetic variation and the levels of particular proteins could pave the way for the identification of new therapeutic target proteins and new ways of employing existing drugs, as well as aid in the determination of potential risks for medicines currently under development.

DOI:10.1038/s41586-018-0175-2 | Original article

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