11 June 2018

The first detailed genetic map of human plasma proteins has been created, it has been announced.

The international study provides new insight into how proteins in the blood are controlled by our genetic make-up.

Led by scientists at the University of Cambridge, the study characterised the genetic underpinnings of the human plasma proteome, identifying nearly 2,000 genetic associations with almost 1,500 proteins.

They used SOMAscan, a new technology, to measure 3,600 proteins in the blood of 3,300 people before analysing the DNA of these individuals to see which regions of their genomes were associated with protein levels.

Senior author Dr Adam Butterworth from the Department of Public Health and Primary Care at the University of Cambridge, said: “Compared to genes, proteins have been relatively understudied in human blood, even though they are the ‘effectors’ of human biology, are disrupted in many diseases, and are the targets of most medicines.

“Novel technologies are now allowing us to start addressing this gap in our knowledge.”

Dr James Peters, one of the study’s principal authors, added: “Thanks to the genomics revolution over the past decade, we’ve been good at finding statistical associations between the genome and disease, but the difficulty has been then identifying the disease-causing genes and pathways.

“Now, by combining our database with what we know about associations between genetic variants and disease, we are able to say a lot more about the biology of disease.”

The research team were able, in some cases, to identify multiple genetic variants that influence levels of a protein.

By combining these variants into a ‘score’ for that protein, they identified new associations between proteins and disease.

They found, for example, that MMP12, a protein previously associated with lung disease, was also related to heart disease. Where higher levels of MMP12 are associated with lower risk of lung disease, the inverse is true for heart disease and stroke.

The researchers say this knowledge could be important as drugs developed to target this protein for treating lung disease patients could inadvertently increase the risk of heart disease. 

First author Benjamin Sun said the database is a starting point and that because the researchers are making their results openly available for the global community to use, the hope is that many new applications will be found.

Source: Sun BB et al. Genomic atlas of the human plasma proteome. Nature 558, 73-79 (2018) doi:10.1038/s41586-018-0175-2

Link: https://www.nature.com/articles/s41586-018-0175-2


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