He also discussed a meta-analysis of autoimmune thyroid disease in Icelanders and British subjects in the 500,000-sample UK Biobank. "That could be of substantial use when it comes to clinical development of potential therapy for the disease," he said. Stefánsson believes the marker could serve as an indicator of disease progression. Moreover, DeCode found that the higher the concentration of the protein, the more likely a subject was to undergo joint replacement within a given timeframe. ![]() Some new findings were in osteoarthritis, autoimmune thyroid disease, and mortality prediction.įor osteoarthritis, Stefánsson noted that there is a "desperate need for a good biomarker for onset of disease and progression." DeCode's scientists discovered that the level of the protein-coding gene CRTAC1 is strongly associated with many types of the disease, he said. The cohort DeCode used was collected over the past 20 years, and while about 80 percent of the Icelanders were still living, 20 percent have since passed away. They also matched them to about 27 million sequence variants. "The more proteins you look at, the less you need to rely on a priori assumptions," he said.Īs part of its study, DeCode obtained SomaScan protein measurements in roughly 36,000 Icelanders and then compared the levels of those proteins with 373 diseases and other phenotypes. He noted that most of the work DeCode did on the SomaScan platform used an earlier generation assay that measured 5,000 proteins, and the company previously announced agreements with SomaLogic in 2018 and in 2020. ![]() Stefánsson pointed out that most of the proteins available on SomaScan were not available on Olink at the time of DeCode's study, though he added that both companies have recently upgraded their offerings, with SomaLogic now capable of measuring 7,000 proteins, while Olink will be able to measure about 3,000 proteins in coming weeks.ĭeCode had previously identified the association of roughly 265,000 genetic variants and about 4,700 proteins with 373 diseases and other traits, and about 80 percent of those proteins were not included on Olink, Stefánsson said, so the firm opted to use SomaScan. SomaLogic's assay, in contrast, relies on protein-capture reagents called SomaMers to measure proteins, which are then quantified using hybridization microarrays. Stefánsson noted that Olink currently enables the measurement of about 1,500 proteins using its proximity extension assay technology, which uses Illumina sequencing for readout. ![]() Scientists who interrogate the proteome need to do so in a hypothesis-independent manner, though, he stressed, an approach made possible by the availability of protein-profiling platforms such as those offered by Boulder, Colorado-based SomaLogic, or Uppsala, Sweden's Olink. He noted that the study of plasma proteins can enable researchers to find the causal gene behind a phenotype and underscored that as protein levels rise and fall over time, they offer a temporal glimpse into disease regression and progression. "The proteome has an advantage over the transcriptome in that basically all proteins in the body make it into blood," said Stefánsson. Yet linking a variant to a phenotype remains challenging and studying the plasma proteome might help to bridge that gap. So far, the company has identified markers associated with osteoarthritis and autoimmune thyroid disease and is developing a calculator to predict five-year mortality risk.Īccording to Stefánsson, two decades of interrogation of the human genome using tools like microarrays and next-generation sequencing has resulted in the discovery of a trove of sequence variants associated with diverse clinical phenotypes. Reykjavik-based DeCode has been using SomaLogic's SomaScan platform to measure the levels of nearly 5,000 proteins in individuals from its biorepository, Stefánsson said, and has been correlating those measurements with data on sequence variants linked to diseases and other traits. The meeting, originally scheduled to take place in Vienna, was moved to a virtual platform because of the ongoing COVID-19 pandemic. NEW YORK - DeCode Genetics CEO Kári Stefánsson kicked off the annual European Society of Human Genetics meeting this week with an overview of how the Icelandic company is blending proteomics and genomics to advance its internal disease research programs. Advances in Clinical Genomics Profiling.
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