A joint research team from two institutions has disclosed a genetic mutation common in people with “super blood vessels,” clear blood vessels even if a person has many risk factors for atherosclerosis.

Atherosclerotic cardiovascular diseases, such as myocardial infarction and angina pectoris, narrow or block arteries. They are caused by factors, including old age, high blood pressure, diabetes, hyperlipidemia, smoking, and heredity. If a patient has several risk factors simultaneously, the probability of developing atherosclerotic cardiovascular diseases increases exponentially.

However, there have been no genetic studies on the association between specific genetic mutations and cardiovascular disease.

The team, led by Professors Lee Sang-hak of the Department of Cardiology at Severance Hospital and Won Hong-hee at Samsung Advanced Institute for Health Sciences and Technology, investigated to find out if a gene protects blood vessels.

researchers conducted a study on high-risk groups with a Framingham risk score of 14 or higher, which can calculate the risk of coronary artery disease over the next 10 years based on gender, age, blood pressure, cholesterol, and diabetes.

The study involved 72 people with normal blood vessels on coronary angiography and CT scans despite the high-risk score and 94 people with the same risk score but had cardiovascular diseases.

The team discovered gene mutations related to super blood vessels using a genome-wide association study (GWAS), which discovers mutations in the entire genome.

Also, through an expression quantitative trait loci (eQTL), the team verified whether differences in gene expression levels related to gene mutations cause changes in human tissue.

As a result of analyzing five million autosomes, the team confirmed 10 loci with super vascular-related mutations.

The loci included the PBX1 gene, which affects blood vessel formation, and the NPAS2 gene, related to the biological clock.

The team stressed that further studies are needed to determine the role of other mutated genes in the human body.

“This study is significant because it mainly focused on patients with healthy blood vessels instead of those with vascular diseases,” Professor Lee said. “The discovery of new genes beyond traditional risk factors such as high blood pressure, diabetes, and hyperlipidemia, will help the development of therapeutic agents in the field.”

Journal of Atherosclerosis and Thrombosis published the result of the study.