They analyzed genetic material from hundreds of patients, looking for differences in gene expression patterns – which genes are turned on or off – between patients who'd survived aneurysms and a control group without aneurysms. For the control group, they used the patients' spouses, since they tended to share similar environmental factors – diet, age and geography – with the patients. They excluded patients with the genetic disease Marfan Syndrome, which is already associated with a high risk of aneurysms.
|Test results from aneurysm study|
As they wrote in PLoS One, they found a set of 41 genes that were either over or under expressed in aneurysm patients compared with the controls.
They then tested this signature on an independent group of patients and control subjects to see if it could identify the aneurysm patients. "It was about 85 percent accurate," says Elefteriades. But he adds that it's still not known whether the test would be useful in predicting aneurysms, or detecting them well before they become large and dangerous.
"Right now, we've only looked at… the point in time after the patients have been diagnosed with an aneurysm," Elefteriads says. "But we would like to study the behavior of that profile over time, and see if it does change as we age, or see if it might predict rupture or internal tearing of the aorta. That investigation remains to be done."
That will require clinical trials in undiagnosed people, which Elefteriades hopes to initiate in the next year.
"I have no doubt that blood tests for aneurysm will be part of our future," he says.
In addition, Elefteriades says the researchers are now taking a closer look at this set of genes to see if they can link their functions to the causes of aneurysms.
Linksi is living proof that with an aneurysm repaired, patients can go on to live a normal, healthy life.
"Both my grandparents lived to be 100-plus. I'm hoping for the same," Linski says.
This research was published in PLOS One, October 17, 2007, and funded by Yale University-New Haven Hospital, Applied Biosystems and Celera Genomics.