This large-scale study investigated the effects of genetic factors in the blood of more than 31,000 people. ‘We have correlated genetic variants that we know 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 recognize subtle patterns that would otherwise remain hidden.’
The researchers conducted several analyzes to look at the direct and indirect influences on gene expression. Polygenic risk scores were used to calculate the participants’ risk of more than 1,200 diseases. ‘This score is, as it were, a summary of a person’s genetic risk, but it doesn’t say much about how the disease comes about. 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 drug development
Candidate drugs that ultimately prove to work well often intervene in molecular processes that are linked to the disease by genetic information. The key genes therefore provide new insights and starting points on which drug development can focus.
In addition, the data from this research provide many opportunities for researchers. The data from the study is online for everyone to use. Hundreds of publications have already been published in which the results of the study have been used.
The study was co-ordinated with Urmo Võsa from the University of Tartu in Estonia. The results of this research were published on September 2, 2021 in the journal Nature Genetics.
– .
