New Haven, Conn. In the largest genome-wide study of brain aneurysms ever conducted, an international team led by researchers at the Yale School of Medicine have identified three new genetic variants that increase a person's risk for developing this deadly disease.
The massive study of intracranial aneurysms involved more than 20,000 subjects and was published in the April 4 online edition of the journal Nature Genetics. The new study, the second by Yale researchers published within the last 15 months, brings to five the number of regions of the genome that have been found to contribute to the nearly 500,000 cases of this devastating disorder diagnosed worldwide annually.
"These findings provide important new insights into the causes of intracranial aneurysms and are a critical step forward in the development of a diagnostic test that can identify people at high risk prior to the emergence of symptoms," said Murat Gunel, professor of neurosurgery, genetics and neurobiology at Yale and senior author of the paper. "Given the often-devastating consequences of the bleeding in the brain, early detection can be the difference between life and death."
The ambitious international collaboration was headed by Gunel and Richard Lifton, Sterling Professor and chair of the Department of Genetics at Yale and a Howard Hughes Medical Institute Investigator. Sixty-nine authors from 32 institutions in 10 countries contributed to the findings by analyzing 5,891 aneurysm patients from Japan and Europe and 14,181 unaffected subjects. They searched across the entire genome for changes in the genetic code that were shared more often by aneurysm patients than by unaffected individuals. The researchers determined that if a person carries all of the risk variants discovered by the Yale-led team, they are five to seven times more likely to suffer an aneurysm than those individuals who carry none.
Gunel and Lifton noted that such huge studies a
|Contact: Bill Hathaway|