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13 New Gene Variants Linked To Heart Disease

March 7, 2011

Scientists have found 13 new gene variants that increase a person’s risk of developing heart disease, which is the world’s top killer.

The researchers said the discovery of 13 previously unknown gene variations and the confirmation of about 10 more should offer clues about how heart ailments like coronary artery disease develop.  This discovery could lead to new and more effective treatments.

The findings also suggest it may be worth mapping someone’s profile of genetic variants for heart problems as part of routine clinical care in the future.

“With such information we should be able to better identify people at high risk early on in life and quickly take the steps to neutralize that excess risk,” Themistocles Assimes of Stanford University School of Medicine in the United States and one of many scientists across the world who worked on the study told Reuters.

“Although we are inching closer to that day, we will probably need to reliably identify many more variants over the next few years before it becomes useful to perform this genetic profiling in a doctor’s office.”

The World Health Organization (WHO) said that cardiovascular disease is the world’s largest killer, which claims 17.1 million lives a year.

Billions of dollars are spent every year on medical devices and drugs to treat them.

Scientists have been examining DNA maps to find genes that may add to people’s risk of heart disease.

For this study, international consortium analyzed data from 14 previous so-called genome-wide association studies, which scan people’s genetic profiles.

Investigators examined the complete genetic profiles of over 22,000 people of European descent with coronary heart disease or a heart attack history, as well as 60,000 healthy people.

Combining data from multiple studies is critical to finding gene risk variants, because the genetic architecture of heart diseases is complex.

“The signals from these gene regions are all rather subtle, making large-scale collaborations a prerequisite for any meaningful progress,” Assimes said in a statement.

Researchers said their results show there are 23 gene variants, and seven are linked to bad cholesterol and one is linked with hypertension, or high blood pressure.

But the others have no relation to known cardiovascular risk factors.

“The lack of apparent association with the risk factors we know so well is the source of a lot of excitement concerning these results,” Sekar Kathiresan of Massachusetts General Hospital in the United States, who worked on the study, told Reuters.

“If these variants do not act through known mechanisms, how do they confer risk for heart disease? It suggests there are new mechanisms we don’t yet understand.”

The study is published in the leading journal, Nature Genetics.

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