Nature Genetics releases large-scale eQTL analysis results, which help explain complex phenotypes

By analyzing the genome data of more than 30,000 people, an international team discovered thousands of new regulatory regions that control disease-related genes

The research was jointly led by the Garvan Institute of Medical Research in Australia and published in the journal Nature Genetics

Joseph Powell, co-senior author and associate professor of the Gavin Institute of Medical Research, said: "In this study, we have deeply revealed how genes and diseases are related, providing a new perspective on gene regulation

Professor Lude Franke of the University of Groningen Medical Center in the Netherlands believes: "Our discovery provides researchers with a new perspective and will help to prioritize genes that are more relevant to therapeutic intervention

New understanding of gene activity

In order to study how genetic variation affects our risk of disease, researchers often carry out genome-wide association studies (GWAS), which is to scan the patient’s genome to find common genetic variations associated with specific diseases

However, it is not simple to explain these results-many genetic variations do not directly cause disease, but rather regulate gene activity and affect protein production

In this study, researchers used specialized machine learning algorithms to analyze the genomic data of 31,684 individual blood samples

"Thanks to the statistical power of this large data set, we can discover new regulatory regions on the human genome," said Associate Professor Powell

Among the millions of genes they studied, the researchers found that not only 88% of the genes have a cis-eQTL effect, but also 32% of the genes have a trans-eQTL effect

The new link between genome and disease

"Obviously, genetic variation always leads to the root cause of the disease, but the mechanism by which they affect the disease is still unclear

"Knowing which genes this regulation focuses on will be invaluable in identifying potential drug targets

Now, researchers can access this resource through

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Võsa, U.