This large-scale study examined the effects of genetic factors in the blood of over 31,000 people. ‘We correlated genetic variants of which we know that they increase the risk of disease with gene expression patterns,’ says UMCG researcher Annique Claringbould. ‘We obtained the data from 37 existing cohorts around the world, including Lifelines. This huge group allows us to identify subtle patterns that would otherwise remain hidden.’
The researchers conducted several analyses to look at the direct and indirect influences on gene expression. They used polygenic risk scores to calculate each participant’s risk of developing any of 1,200 different diseases. ‘In a way, this score summarizes the genetic risk of a person, but it does not say much about how the disease develops. By linking the genetic score to gene expression patterns, we arrived at key genes that play an important role in the development of a disease,’ says Claringbould.
Important for medicine development
The candidate medicines that ultimately prove the most effective are often those that intervene in the molecular processes linked to the disease through genetic information. The key genes therefore provide new insights and leads for medicine development.
Next to that, the data of this study, which has been made available online for everyone to use, offers many opportunities to researchers. By now, hundreds of publications have used the results of this study.
The study has been coordinated together with Urmo Võsa from the University of Tartu in Estonia. The results of this study have been published in the journal Nature Genetics on 2 September 2021.