Study sheds light on genetic factors for intracranial aneurysm

February 14, 2014 by Keith Herrell

(Medical Xpress)—A large collaborative study that included researchers from the University of Cincinnati (UC) College of Medicine is reporting a new chromosomal region associated with intracranial aneurysm susceptibility, shedding new light on genetic risk factors for a life-threatening condition.

The research from the Familial Intracranial Aneurysm (FIA) project is being presented today, at the American Heart Association/American Stroke Association's International Stroke Conference 2014 in San Diego.

Joseph Broderick, MD, distinguished research professor at UC and director of the UC Neuroscience Institute, an institute of the UC College of Medicine and UC Health, is giving the oral presentation on behalf of an international collaborative research effort. Sponsored by the National Institute of Neurological Diseases and Stroke (NINDS), the study is examining genetic and environmental risk factors for . This analysis involved collaboration with researchers in the Netherlands and Finland.

An intracranial aneurysm is a weak, bulging spot on the wall of a brain artery. The aneurysm may eventually rupture, allowing blood to escape into the area around the brain (subarachnoid hemorrhage). When that happens, advanced surgical treatment is often required. Treatment options include surgical clipping, coiling and bypass.

Unruptured brain aneurysms often have no symptoms. The Brain Aneurysm Foundation estimates that 6 million Americans have an unruptured that has gone undiagnosed. When an aneurysm does rupture, the foundation says, about 15 percent of the victims die before reaching a hospital. Ruptured brain aneurysms are fatal in about 30 to 40 percent of cases. Of those who survive, about 66 percent suffer some permanent neurological defect.

The researchers, by performing a genomewide association analysis in a discovery sample of Caucasian ancestry, identified evidence of association of intracranial aneurysms with a region of chromosome 7, one of 23 chromosome pairs in the human body. Additionally, they replicated evidence of association with IA in chromosome 9, which was reported previously to be associated with IA.

"The chromosome 7 region, while newly associated with intracranial aneurysm, was previously associated with ischemic and large vessel ischemic stroke, suggesting a possible genetic and vascular link between these stroke subtypes and intracranial aneurysm," says Broderick.

"As for chromosome 9, we've reconfirmed that it's the location of the area most strongly associated with intracranial aneurysm." This region on chromosome 9 has also been linked to related to large artery disease.

Broderick notes that it's important to gain a better and more complete understanding of the gene variations that lead to aneurysm.

"If we identify people who have a stronger family risk for , we can make it very clear to them that they must avoid other such as smoking and high blood pressure," he says.

Also, he said, people with an elevated genetic risk factor might be encouraged to undergo imaging to make sure no aneurysms are developing.

Explore further: Growth in cerebral aneurysms increases risk of rupture

Related Stories

Growth in cerebral aneurysms increases risk of rupture

July 2, 2013

Cerebral aneurysms of all sizes—even small ones below seven millimeters—are 12 times more likely to rupture if they are growing in size, according to a new study published online in the journal Radiology.

Recommended for you

Macrophages shown to be essential to a healthy heart rhythm

April 20, 2017

A Massachusetts General Hospital (MGH)-led research team has identified a surprising new role for macrophages, the white blood cells primarily known for removing pathogens, cellular debris and other unwanted materials. In ...

3-D-printed patch can help mend a 'broken' heart

April 14, 2017

A team of biomedical engineering researchers, led by the University of Minnesota, has created a revolutionary 3D-bioprinted patch that can help heal scarred heart tissue after a heart attack. The discovery is a major step ...


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.