Researchers identify “genetic variant” in AAA patients

131

Scientists at the Weis Centre for Research are part of an international team that has identified a genetic variant more common in individuals with abdominal aortic aneurysms (AAA).

Geisinger researchers Helena Kuivaniemi, Gerard Tromp, David J Carey, and James Elmore say their team is on track to establish the genetic triggers for AAA. This finding will pave the way for earlier diagnosis of adults who could be at risk of developing the condition and open up the possibility of inventing new drugs and treatments.

 

AAA, the most common aneurysm, is a balloon-like protrusion in the abdomen’s main artery (aorta) that, if untreated, is potentially life-threatening. Considered a significant national public health problem, AAA accounts for more than 150,000 hospital admissions, 40,000 repair operations and 15,000 deaths annually.

 

“What is critical now is to expand and translate this basic biological finding into a clinical tool for early detection and treatment,” said senior researcher Dr Kuivanemi.

 

The identification of a genetic variant, called a SNP (pronounced snip), refers to a single nucleotide polymorphism on chromosome 9q33 that is associated with an increased risk of AAA. This SNP is located within the DAB2IP gene that encodes an inhibitor of cell growth and survival and is associated with early-onset myocardial infarction, peripheral arterial disease and pulmonary embolism, but not with intracranial aneurysm or ischemic stroke.

 

To view the results of the study, visit the Nature Genetics website (www.nature.com/ng).