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A new study published Wednesday said that researchers have identified a gene mutation that increases the risk of developing a common and potentially fatal condition called aortic valve disease.

In a paper published in the New England Journal of Medicine, members of the Cohorts for Heart and Aging Research in Genome Epidemiology (CHARGE) consortium report on their search for genes associated with aortic valve calcification and mitral annular calcification in several of study cohorts.

They found one SNP, in a gene previously shown to be associated with lipoprotein(a) levels and the risk of coronary artery disease, to be significantly associated with a doubling of the risk for aortic-valve calcification. This finding was replicated in additional cohorts.

The lead author, Dr. George Thanassoulis of McGill University in Montreal, says the mutation is found in about 13 per cent of people of European descent.

It occurs to a lesser degree in people of African-American and Hispanic ethnicity, but is barely seen in people of Chinese-American ancestry, according to the study.

"This is an important step forward in understanding the biology of the development of aortic stenosis," said senior author Wendy Post, from the Johns Hopkins University School of Medicine.

Thanassoulis says researchers were able to show that the mutation was the number one genetic risk factor for the disease, and that it was the circulating Lp(a) in the blood that was causing the valve disease in the people studied.

Thanassoulis and his colleagues set out to see if there is a genetic basis to the condition, analyzing the full genomes of roughly 7,000 people from a number of countries.

"If we could understand the biology behind this, perhaps we can start to think about treatments and what we need to modify to prevent it. That was our major thrust," he says.