A gene variant has been identified that helps to protect against heart diseases.
The variant is found in the MFGE8 gene, which produces lactadherin, a protein that affects the process of arterial stiffening, Finnish researchers have reported.
A team from the University of Helsinki’s Institute for Molecular Medicine Finland carried out the study and identified it in the FinnGen genomic study, which comprises more than 260,000 Finnish biobank sample donors.
They found the risk of developing heart diseases is about one-fifth lower in carriers of the variant compared to the average population and the results indicate the variant inhibits the function of the lactadherin protein.
The findings are published in the latest edition of *Communications Biology*.
Doctoral researcher Sanni Ruotsalainen said: “Hundreds of genetic factors affecting the risk of developing cardiovascular diseases have already been identified. However, the number of known variants that reduce the risk of disease and directly indicate the active gene, like the MFGE8 variant, is relatively low.”
The variant is 70 times more common in Finland than in the overall European population, found in about 5.5% of Finns, with slightly higher frequency in eastern Finland than in western parts of the country.
It has an effect on the age of onset of coronary heart disease, with carriers suffering a myocardial infarction or being diagnosed with coronary heart disease an average 18 months later than the rest of the population.
“In terms of developing new drug therapies, variants that reduce the risk of developing diseases are particularly interesting,” said principal investigator Professor Samuli Ripatti.
“Our findings also demonstrated that the MFGE8 variant did not increase the risk of any other disease. Therefore, a drug molecule mimicking the functioning of the gene could make it possible to develop entirely novel therapies for the prevention of cardiovascular diseases.”
Ruotsalainen SE, Surakka I, Mars n et al. Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis. *Communications Biology* 18 August 2022
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