Researchers Uncover a New Gene Variant That Can Protect Against Heart Disease



A variation that protects against heart illnesses and is typical of the Finnish population was found by the University of Helsinki-led FinnGen genetic investigation. The risk of developing heart disease is about one-fifth lower in carriers of the variation than in the general population.

The lower-than-average arterial stiffness of the carriers accounts for the newly discovered variant's protection against coronary heart disease.

The affected variant is located in the MFGE8 gene, which makes the lactadherin protein. It is well established that lactadherin has an impact on arterial stiffness. The outcomes demonstrate that the variation interferes with the activity of the lactadherin protein. However, this needs to be confirmed by additional study.                
Based on a FinnGen dataset with more than 260,000 Finnish biobank sample donors, the findings were published in Communications Biology.

The FinnGen research dataset enabled the discovery.

The major cause of death continues to be cardiovascular illnesses on a global scale. In Finland, cardiovascular diseases are responsible for one-third of all fatalities.

The recently published study compared the genetic diversity between persons with coronary heart disease and other study participants using the FinnGen dataset. The research identified 38 genetic loci, including the MFGE8 gene, four of which were previously unknown, that are associated with an elevated risk of coronary heart disease.                                                                                         
There have already been discovered hundreds of genetic variables that influence the likelihood of acquiring cardiovascular illnesses. Sanni Ruotsalainen, a doctoral researcher at the University of Helsinki's Institute for Molecular Medicine Finland, led the study. "However, the number of known variants that lower the risk of disease and specifically show the active gene, like the MFGE8 variant, is quite limited," she says.

The discovery of the link between MFGE8 and coronary heart disease is a prime example of the special benefits that the Finnish population offers to genetic research. The reason it has not been discovered in prior gene studies is that the problematic mutation is 70 times more abundant in Finland than in the rest of Europe. Approximately 5.5% of Finns have the variant, with eastern Finland having a slightly higher prevalence than western Finland.

Perspectives for medication development are expanded by a preventive action against coronary heart disease.

The age at which coronary heart disease first manifests itself was also found to be impacted by the variation. A myocardial infarction or diagnosis of coronary heart disease occurred on average 18 months later in carriers of the protective variation than in the general group.

According to the study's lead author, Professor Samuli Ripatti of the University of Helsinki, "variants that lessen the likelihood of getting diseases are extremely relevant in terms of generating novel medication therapies."

For instance, the next-generation cholesterol medications currently in use, PCSK9 inhibitors, were created as a result of a related observation. This new discovery adds a new mode of action to cholesterol's role as a cardiovascular disease preventative.

The MFGE8 variation did not raise the risk of any other diseases, according to our data. Therefore, the development of completely new medicines for the prevention of cardiovascular illnesses may be made possible by a pharmacological molecule that mimics how the gene functions, according to Ripatti.

By UNIVERSITY OF HELSINKI

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