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The bigger you are, the more likely you are to develop varicose veins, according to a study by researchers at Stanford University School of Medicine who examined the genes of more than 400,000 people looking for clues.
"Genes that predict the size of a person can be at the origin of this link between size and varicose veins and can provide clues for treating the disease," said Nicholas Leeper, MD, associate professor of Surgery and Cardiovascular Medicine at Stanford.
The study also identified 30 genes related to varicose disorder and a strong genetic correlation with deep vein thrombosis. It will be published on September 24 at circulation. Leeper and Erik Ingelsson, MD, PhD, professor of cardiovascular medicine, are the lead authors. Eri Fukaya, MD, Ph.D., Clinical Assistant Professor in Vascular Surgery, and Medical Student, Alyssa Flores, share the main title.
Varicose veins are twisted and swollen veins that can be seen just below the surface of the skin, usually in the legs. More than 30 million people in the United States have varicose veins. Although the disease is often considered a mere cosmetic nuisance, it can cause moderate pain and is related to the more serious side effects of deep vein thrombosis, which occurs when a blood clot forms in one or more of the deep veins of the body.
"We know very little"
"The condition is incredibly widespread, but little is known about biology," Flores said. "There are no medical therapies that can prevent it or reverse it once they are there." Treatment is mainly limited to surgical procedures, such as laser treatment or venous stripping. "We hope that with this new information, we will be able to create new therapies, as our study highlights several genes that could represent new translational targets," she said.
The researchers used data from the British biobank – both a long-term study and a genetic repository including genomic data on about half a million people – to search for risk factors for varicose veins to help of machine learning combined with epidemiological methods. In addition, they searched for genetic markers using genome association studies in 337,536 participants, of whom 9,577 had varicose vein disease. The study confirmed that currently established risk factors – including age, woman, overweight or pregnancy, or a history of deep vein thrombosis – are all associated with varicose veins.
"We confirmed that having deep vein thrombosis in the past exposes you to increased risk in the future," Leeper said. "Recent research suggests that the opposite seems to be true too, having varicose veins puts you at risk for these blood clots."
The study also confirmed that leg surgery, family history, lack of movement, smoking and hormone therapy are risk factors. But the correlation they found between size and condition was unexpected, according to the researchers.
"We were very surprised to find that our machine learning analyzes were up to the task," said Flores.
Disable the algorithm
Typically, in a large-scale genetic study like this, researchers use genome-wide association studies to examine DNA variations that may be associated with increased risk for the genome. a particular disease. Using this method, researchers identified 30 regions of the genome associated with varicose veins. But researchers have also used another method involving machine learning, a type of artificial intelligence, to launch a giant net to uncover any previously unknown risk factors.
"These methods represent new ways of thinking about research," Ingelsson said. "You go without hypothesis on a specific biological mechanism and look for something new.You could say that you let go of the machine.In this case we included 2,716 predictors of varicose veins in this machine learning algorithm. algorithms find the strongest predictors of varicose veins. "
In addition to size, the machine learning algorithm has shown that bioimpedance, a measure of the body's ability to impede the flow of electrical current, is a powerful predictor of varicose veins. This measure could potentially be used as a diagnostic tool to predict varicose veins, Leeper said.
When the machine learning analysis revealed that height was a possible risk factor, the researchers conducted additional tests to determine if it was a real cause of the disease with the help of Mendelian analyzes, a statistical technique for determining causal effects.
"Our results strongly suggest that size is a cause, not just a correlated factor, but an underlying mechanism leading to varicose veins," Ingelsson said.
He added, "By doing the largest genetic study ever done on varicose vein disease, we now understand modified biology much better in people at risk."
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Daniela Zanetti, PhD, a postdoctoral researcher at Stanford, also contributed to the study, as did researchers at the University of Uppsala in Sweden.
The study was funded by the National Institutes of Health (grant 1R01HL135313) and the Knut Foundation and Alice Wallenberg.
The Stanford Department of Medicine also supported the work.
The Faculty of Medicine at Stanford University consistently ranks among the country's top medical schools, integrating research, medical education, patient care and community services. For more information on the school, please visit http: // med.
Press contact: Tracie White at 650-723-7628, traciew @ stanford.edu
Press contact: Margarita Gallardo at 650-723-7897, [email protected]
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