NSU Scientists Study Genetic Foundation of Varicose Veins

Varicose veins in the legs are a common ailment, occurring on average in every third adult Russian. A proven risk factor for the development of this disease is heredity. The genetics of varicose veins, unlike the genetics of other common pathologies, only recently attracted the attention of researchers.

A team of Novosibirsk scientists from the NSU Theoretical and Applied Functional Genomics Laboratory and the Institute of Cytology and Genetics SB RAS, under the supervision of Candidate of Biological Sciences Yakov Tsepilov, conducted the world's first large-scale study of the genetic foundation of varicose veins. Data from the UK Biobank with a sample of 408,000 people was used for the analysis. The team used only open access resources in their work.

Researchers discovered nine genes whose variants influence the risk of varicose veins. One of these is the PIEZO1 gene that encodes the ion channel. It was previously demonstrated that when it is in the endothelial cells, PIEZO1 is able to capture the stress during blood movement and convert it into a biological signal that changes the structure of a blood vessel. In the future, this and other proteins encoded in the genes may serve as targets for new drugs. The research results were published in the prestigious journal “PLOS Genetics”.

In addition to genes, NSU scientists identified genetic correlations of varicose veins with other factors and diseases in humans. The presence of a genetic correlation means that symptoms have common genetic factors and, possibly, intersecting molecular mechanisms in their formation. A number of factors correlating with varicose veins were identified earlier from epidemiology: overweight, working while standing, heavy physical labor, venous thrombosis. No previous connection with varicose veins was suggested for other factors including intelligence, body pain, and gonarthrosis. Genetic correlation is also found for smoking.

Alexandra Shadrina, Candidate of Biological Science and Senior Researcher at the Theoretical and Applied Functional Genomics Laboratory, talked about the future potential for this work,

Today we have tremendous opportunities to conduct large genetic studies. The world has accumulated an impressive array of data that is waiting to be processed. Another objective of our work was to demonstrate the possibilities for using open resources that do not require a payment to gain access to data, and to extract the maximum of information from what is stored in these databases.

The use of modern statistical methods allowed the scientific team to establish a direct causal link between a number of factors and varicose disease. These were height, overweight, and the level of two proteins in plasma - MICB and CD209. Both proteins are related to the immune system. However, scientists warn that the role of these proteins in the pathophysiology of varicose veins should not be considered confirmed until further experiments have been conducted.