Whole-genome sequencing reveals new, more specific biomarkers 

Published: 2019-11-28


Researchers from SciLifeLab demonstrate that the increased precision of whole-genome sequencing can improve our understanding of how to use protein biomarkers – specific proteins circulating our blood stream – to identify biological processes connected to disease.

In a recent study, led by Åsa Johansson (SciLifeLab/Uppsala University), researchers investigated protein biomarkers, that increases or decreases with inflammation, in around a thousand Swedish individuals. In contrast to earlier studies, were only selected genetic variants were analyzed, whole genome sequencing was used. The researchers were able to identify 18 new genes that regulate biomarkers, linked to diseases such as Crohn’s disease and rheumatoid arthritis. 

The results indicates that a larger amount of inflammatory biomarkers are affected by genes than previously believed, but also that the risk of developing inflammatory diseases seem to be directly linked to many of the biomarkers.

“We saw that individuals with genetically increased levels of several inflammatory biomarkers also had an increased risk of inflammatory bowel disease (IBD),” says Julia Höglund, PhD student at the Department of Immunology, Genetics and Pathology at Uppsala University, and one of the leading researchers behind the study, in a press release from Uppsala University.

The study, published in Scientific Reports, can help us better understand how our genes affect the risk of common diseases and also how we can use biomarkers more reliably in future diagnosis of various diseases.