RELEASE: Large-scale proteomics in population studies from the United Kingdom and Iceland

REYKJAVIK, Iceland, Sept.

RELEASE: Large-scale proteomics in population studies from the United Kingdom and Iceland

REYKJAVIK, Iceland, Sept. 25, 2023 /PRNewswire/ -- In a paper published today, scientists at deCODE Genetics share their findings from a plasma proteomics study performed using affinity-based methods. They analyzed the proteins in the context of disease and genome sequence diversity and compared measurements made using two platforms of thousands of proteins in samples from large groups from the UK and Iceland Biobank.

In an article published today in Nature, scientists from deCODE Genetics, a subsidiary of the pharmaceutical company Amgen, demonstrate how plasma proteomics can contribute to a better understanding of diseases. The study, focused on the plasma proteome, led the team to find associations between various diseases and the levels of specific proteins. "Measuring a large number of proteins in a population cohort allows us to discover circulating biomarkers and detect diseases early," said Patrick Sulem, a scientist at deCODE genetics and one of the lead authors of the article.

Furthermore, scientists took advantage of genetic factors that influence protein levels to elucidate biological links between sequence variant associations and the pathogenesis of disease development. "The biological relationship between the association of a sequence variant with a disease can often be elusive. Incorporating proteogenomics into the analysis can uncover the molecular mechanisms of disease development," said Kári Stefánsson, scientist at deCODE genetics.

The scientists analyzed data from around 50,000 individuals of European, African and Asian ancestry from the UK Biobank, using 2,941 immunoassays on the Olink Explore platform. The data were generated by the UK Biobank Pharma Proteomics Project (UKB-PPP), a consortium of thirteen biopharmaceutical companies, including Amgen, that study circulating protein biomarkers. The authors compared these results with those of a previous study in which they analyzed data from about 40,000 Icelanders using 4,907 aptamer-based assays on the SomaScan platform. In total, they identified more than 80,000 associations between sequence variants and protein levels and more than 500,000 associations of diseases and other traits with protein levels.

The scientists observed discrepancies in measurements of protein levels when a subset of samples were examined using both platforms. These differences between platforms affected the discovery of circulating biomarkers of the disease and the detection of genetic factors that simultaneously influence protein levels and the manifestation of the disease. When examining large cohorts from Iceland and the United Kingdom, a considerable number of associations could be detected, making the comparison meaningful. The authors stressed the value of validating individual assays on a case-by-case basis.

"Although these two proteomic platforms are useful tools for the simultaneous analysis of thousands of proteins in large data sets, careful validation of individual proteins is necessary," said Kári Stefánsson, CEO of deCODE genetics and one of the lead authors of the article.

Headquartered in Reykjavik, Iceland, deCODE is a world leader in the analysis and understanding of the human genome. Using its unique expertise and population resources, deCODE has discovered genetic risk factors for dozens of common diseases. The goal of understanding the genetics of diseases is to use that information to create new means of diagnosing, treating and preventing diseases. deCODE is a wholly owned subsidiary of Amgen (NASDAQ: AMGN).

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