Waltham, Mass. — Thermo Fisher Scientific said a large-scale proteomics study conducted with Precision Health Research, Singapore and Nanyang Technological University has identified more than 2,500 previously unreported associations between genetic variation and protein levels.
The findings come from the PRECISE-SG100K study and were presented at the Human Proteome Organization World Congress.
Researchers analyzed samples from the first 10,000 study participants using Thermo Fisher’s Orbitrap Astral mass spectrometry technology and Olink Proximity Extension Assay platforms, alongside Seer’s Proteograph Product Suite.
The analysis measured about 8,800 protein groups and identified more than 4,200 proteins whose levels were linked to nearby genetic differences. Of those, 2,762 associations had not previously been reported across 12 reference studies used for comparison.
Thermo Fisher said the findings show how combining different proteomics technologies with genomic and health data can provide a broader view of human biology and help researchers investigate disease pathways, potential biomarkers and therapeutic targets.
“Every new connection between our genes, proteins and health and disease states adds another piece to the complex puzzle of human biology,” said Karen Nelson, Chief Scientific Officer of Thermo Fisher Scientific.
“Researchers no longer have to choose between depth and scale. Combining a deep discovery mass spectrometry-based approach and targeted technologies such as Olink with genomic and health data can reveal previously unseen biology and help build a stronger foundation for discovery, new biomarkers and potential therapeutic strategies,” Nelson added.
John Chambers, Ph.D., Chief Scientific Officer at PRECISE and Principal Investigator of the SG100K study, presented the findings at the HUPO meeting.
“Our ability to connect additional protein biology insights to genetic variation and, ultimately, health-related traits gives us a new set of hypotheses to investigate as we work to understand disease biology in Singapore’s diverse Asian population and translate those insights more broadly,” Chambers said.
Researchers also linked proteins to 71 health-related traits, including confirming an association between SOST, or sclerostin, and bone mineral density.
The Orbitrap Astral platform is designed to measure thousands of proteins directly at high throughput, while Olink technology provides targeted and highly sensitive protein measurements. Thermo Fisher said using the technologies together can provide complementary views of the proteome and help address the challenge of achieving both analytical depth and scale in population studies.
The SG100K study has recruited more than 100,000 participants from Singapore’s Asian population and combines genomic, proteomic, clinical and other health information.
The initiative is aimed at improving understanding of how genetics, environment and lifestyle influence disease risk and treatment response, while increasing representation of diverse populations in biomedical research.
