Identify new genetic markers with a higher risk of diabetes

Barcelona Supercomputing Center (BSC)-National Supercomputing Center (CNS) has identified new genetic markers that are associated with a greater risk of suffering from type 2 (T2D), which contracts as an adult, which opens a new path forDevelop perzonalized drugs.

The research, published by the magazine 'Nature Communications', has been carried out by resancing genetic data of 70,000 people from public databases and shows a new way of exploiting pre -existing genetic data to obtain new relevant discoveries for geneticsand biomedicine.

According to researchers, understanding the genetic and physiological complexity of diabetes will allow more effective treatments and design efficient prevention strategies.

Thanks to be able to analyze the genetic data of 70,000 people available in public databases with unprecedented genetic resolution levels for this disease, researchers have been able to identify seven new regions of the genome that are associated with a greater risk of suffering from type diabetes2.

Although about 100 genome regions have already been detected that are also associated with a greater susceptibility to develop T2D, most of them modify the risk in a range of 5 to 30%.

On the other hand, one of the new areas collected in this study, which correspond to a rare genetic marker on the X chromosome, increases the risk of T2D by 200% in men.

This fact suggests that the identification of this marker prior to the development of T2D could be useful to design and apply preventive strategies that could delay or avoid the development of the disease, according to BSC-CNS researchers.

The study also shows the possible mechanism behind this increased risk and indicates the AGR2 gene as possible target for efficient treatments.

"With the reanalysis of public genetic data, we had the opportunity to deeply explore the role of genetic variation in the X chromosome, which is often not taken into account in genetic analyzes. Our discoveries in this study make it clear that these new perspectivesIn the biology of the disease they could not have been discovered by the simple fact of excluding these data, "explained Sílvia Bonàs-Guasch, first author of the study.

David Torrents, head of the Computational Genomics Group at the BSC-CNS, and Josep M. Mercader, collaborator of the same institution, have supervised the project, in which the Workflows and Distributed Computing group has also collaborated, led by Rosa M.Badia

"The shared use of biomedicine data allows its reanalysis using new and more efficient approaches and makes it possible to answer more ambitious questions in reference to the bases of the disease, as we have done in this study for type 2 diabetes," he saidTorrents.

According to the researcher, the continuous increase in biomedicine data production, mostly due to advances in DNA and RNA sequencing technologies, allows to search in the genetic and molecular bases of diseases with unprecedented speed and resolution.

While the scientific community worldwide promotes open access policies, respecting patient privacy and rights, some sectors choose to keep this data private, normally to avoid commercial and scientific conflicts.

"Honestly, we were surprised by the amount of additional information that can be obtained with the resaneBiomedical (IRB, Barcelona), the Massachusetts General Hospital (Boston), the Imperial College (London), the Broad Institute of Mit and Harvard, and the University of Copenhaguen, among others.

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They are good news. In a laboratory, identification of the defective gene, great advance and news.Empalmes in 3). At the altering DNA, new unknown genetic mutations entails. Although the causative failure or gene is identified, the thousands of combinations are very varied. Time is required, tests.etc ... the main private financing.Mouse is not human. Another example is the gene causing metastasis, rare disease, etc...

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