By analyzing genome data from more than 30,000 people, an international team has revealed thousands of new regulatory regions that control disease-related genes-now researchers all over the world can use this resource.
Co-led by the Garvan Institute of Medicine and published in Nature Genetics, these findings are an important step forward for precision medicine driven by genomics, which can help identify markers and reveal which patients will be from which Benefit the most from treatment.
DNA chain-artistic impression. Image source: typographyimages/Pixabay Free license
via Needpix.com "In this study, we provide a new perspective on genetic regulation by revealing an in-depth picture of how genes and diseases are linked. This is so far The most comprehensive analysis of how human genetic variation affects gene expression," said Gong. Senior author Joseph Powell, Associate Professor, Director of the Garvan-Weizmann Center for Cell Genomics and Deputy Director of the Institute for the Future of Cell Genomics at the University of New South Wales.
"Our findings provide researchers with a new perspective on the genes they are interested in, and will help prioritize those genes that may be more relevant to therapeutic interventions. It can also lead us to find better ones. Markers are used to track disease progression and drug efficacy.” said Professor Lude Franke, co-senior author from University Medical Centre Groningen.
new insights into gene activity
To study how human genetic variation affects our disease risk,Researchers often conduct genome-wide association studies, scanning patients’ genomes and looking for more common genetic variants associated with specific diseases.
But the interpretation of these results is not straightforward-many gene mutations instead of directly causing diseases, but regulate gene activity and affect protein production. By precisely locating these regulatory regions called the locus of the expressed quantitative traits, researchers can better understand which genes directly cause disease risks and which genes can be precisely treated.
In this study, researchers used specialized machine learning algorithms to analyze genomic data from blood samples from 31,684 individuals.
"Thanks to the statistical power of this large data set, we were able to discover new regulatory regions on the human genome," said Associate Professor Powell. "We can not only catalog the adjacent regulatory gene positions (called cis eQTL), but also reveal genes that regulate the activity of longer-distance genes (called trans eQTL)."
Among millions of genes, researchers found that not only 88% of genes have cis-eQTL effects, but 32% of genes also have trans-eQTL effects further away in the genome, and more than half of them can be assigned to biological effects. For example, cardiovascular and immune diseases .
reveals the link between new genomes and diseases
"Although it is obvious that genetic variants are almost always the root cause of diseases, the mechanisms by which they affect diseases are not well understood. For example, although specific conditions may be related to hundreds of species Genetic variation is related, but most of them cause diseases through regulating gene activity," Associate Professor Powell said.
"understand which genes this regulation "converges" on,It is very important to determine the target of potential new drugs. If a pharmaceutical company develops a treatment for a certain molecule, our resources can help determine how its expression is regulated and whether the genetic background of different patients may affect its efficacy," he added. "What we found It is a whole new level of genomic information, providing a deeper understanding of biology and disease. ”
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