Scientists ID 170 common human genetic mutations linked to CVD

Researchers at Karolinska Institutet in Sweden have been able to identify 170 common genetic mutations linked to cardiovascular disease (CVD), and have thus led to the development of a genetic risk score to help guide patients in treatment. The scientists hope that a combination of insights from pathological genetic mutations and general characteristics of the patients with the disease and their physicians will be useful for the management of CVD. The study has now been published in the scientific journal Cell Reports.

CVD affects more women in the Scandinav region than in the western or southern Mediterranean regions. According to the present Danish health system, approximately 1.2 million people are affected. It has been estimated that the number of new cases of CVD annually in the whole of Europe rocketizes from 2 to 6,400 per year in Iran and Russia, and 5 to 10,000 per year in Germany.

One of the contributing factors is a mutation in a gene known as WDR1 (cyclic MYC-containing retrotransposon gene), which plays a major role in the development of CVD. Mutations in this gene are found in about 10% of all cardiovascular-causing mutations. The majority of patients carrying mutations in this region have already been diagnosed with the disease decades ago, while the other 90 percent are either already at a very advanced stage of the disease or who are only moderately affected at its early stages.

The risk score can be based on genetic mutations in patients with CVD. For the purpose of mathematical models of genetic mutations, a new approach is now being used. Using data from more than 1000 patients, the researchers have generated a score to form a predictive blood test that helps guide patients in their treatment. The score gives an indication of the risk of 30 specific genetic mutations in patients with CVD that are a far greater number than those of commonly used genetic tests.

It also changes the function of another gene called WHAD2 that is used in various cardiovascular diseases. The WHAD2 gene is involved in the development of angina and chronic cholesterol disease and, therefore, it is considered an essential gene.

Dr. Lasse Hultbom Åberg, consultant cardiologist and immunologist at Brigham and Women’s Hospital and Karolinska Institutet, and the study’s lead author, says:

That is why we chose to perform a genetic analysis of people carrying mutations in this gene. People with the mutation we studied who had recently had heart attacks were much more likely to develop cardiovascular diseases in the future. Our results show that this mutation also appears in a other group of patients who are not at a very advanced stage of the disease, and without other genetic tests who are known to be strongly affected by immune system and cardiovascular diseases. In addition, we were able to show that the finding is also relevant to experts in medicine and genetic diagnosis.”

They are not the first to study the WHAD2 gene. The study was conducted as a part of a larger assessment of almost 10,000 people, and therefore comparable to Willebrand Sandström’s study of medieval champion Amadeus Wintrich. There is limited information on particular genetic mutation rates in the general population. All in all, the researchers believe that their results are of interest to researchers and health professionals in the human testing field as well as to patients and scientists involved in the quest for genetic tests.