Gene Mutations may Play Role in Increasing Risk of Cardiovascular Disease

Scientists in Finland have shown that mutations in a gene called upstream transcription factor 1 (USF1) may increase the risk for cardiovascular disease.

A gene called upstream transcription factor 1 (USF1) could be implicated in increasing the risk for cardiovascular disease, Finnish scientists have revealed.

This is the same gene that was first identified in Finnish families ascertained for familial combined hyperlipidemia, a common dyslipidemia predisposing to coronary heart disease.

Kati Kristiansson, a member of the research group of Professor Leena Peltonen at the University of Helsinki, investigated variation within the gene locus in relation to risk factors for atherosclerosis and incidence and prevalence of cardiovascular disease.

"We examined association between USF1 variants and several CVD risk factors, such as lipid phenotypes, body composition measures, and metabolic syndrome, in two prospective population cohorts, and our data suggested that USF1 contributes to these CVD risk factors at the population level", Kristiansson says.

The associations with quantitative measurements were mostly detected among study subjects with cardiovascular disease or metabolic syndrome, suggesting complex interactions between USF1 effects and the pathophysiological state of an individual.

Kristansson also used two study samples of middle-aged men with detailed measurements of atherosclerosis obtained in autopsy, with a view to determining whether carrying this gene variant has a direct impact on the atherosclerotic lesions of the coronary arteries and abdominal aorta.

It turned out that USF1 variation significantly associated with the size of the areas of several types of arterial wall lesions, especially with calcification of the arteries.

She then tested what effect the USF1 risk variants might have on sudden cardiac death and incidence of cardiovascular disease at the population level, and found that the risk variant increased the risk of sudden cardiac death of the same study subjects.

She further noted that the USF1 risk variants were associated with incidence of cardiovascular disease in Finnish population follow-up cohorts. The associations were especially prominent among women, suggesting a sex specific effect, she added.

"In conclusion, USF1 seems to have a role in the etiology of CVD. Additional studies are warranted to identify functional variants and to study interactions between USF1 and other genetic or environmental factors. These studies, which uncover the details of the disease etiology, provide tools for the prevention and treatment cardiovascular disease," Kristiansson said.

Source-ANI
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