PR93442

REYKJAVIK, Iceland, Dec. 2, 2021 /PRNewswire=KYODO JBN/ --

In a study published today in Nature genetics, scientists at deCODE genetics ,

a subsidiary of the pharmaceutical company Amgen, demonstrate how measuring the

levels of a large number of proteins in plasma at population scale when

combined with data on sequence diversity and RNA expression dramatically

increases insights into human diseases and other phenotypes.

Scientists at deCODE genetics have used levels of five thousand proteins in

plasma targeted on a multiplex platform at population scale to unravel their

genetic determinants and their relationship with human disease and other

traits. Previous studies of the genetics of protein levels either consisted of

much fewer individuals or tested far fewer proteins than the one published

today.

Using protein levels in plasma measured with the Somascan proteomics assay,

scientists at deCODE genetics tested the association of 27 million sequence

variants with plasma levels of 4,719  proteins in 35,559 Icelanders. They found

18,084 associations between variants in the sequence and levels of proteins,

where 19% are with rare variants identified with whole-genome sequencing.

Overall, 93% of the associations are novel. Additionally, they replicated 83%

and 64% of the reported associations from the largest existing plasma proteomic

studies, based on the Somascan method and the antibody-based Olink assay,

respectively.

The levels of proteins in plasma were tested for associations with 373 diseases

and other traits and yielded 257,490 such associations. They integrated

associations of sequence variants with protein levels and diseases and other

traits, and found that 12% of around fifty thousand variants reported to

associate with diseases and other traits  also associate with protein levels.

"Proteomics can assist in solving one of the major challenges in genetic

studies: to determine what gene is responsible for the effect of a sequence

variant on a disease. In addition the proteome provides some measure of time

because levels of proteins in blood rise and they fall as a function of time to

and from events," said Kari Stefansson CEO of deCODE genetics and one of the

senior authors on the paper.

source: deCODE genetics