Researchers identify genetic variant associated with increased risk of AAA

February 03, 2016

"Critical to Geisinger's role in this project," noted Dr. David Carey, "is MyCode??, a cohort of Geisinger patients who have consented to the use of their blood and DNA samples for research to elucidate the genetic basis of disease."

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. No association was observed between the variant and common risk factors for arterial and venous diseases, such as smoking, lipid levels, obesity, type 2 diabetes and hypertension.

Drs. Kuivaniemi, Tromp, Carey and James Elmore have been studying AAA for more than 15 years and have co-authored several publications on the genetics of AAA.

SOURCE Geisinger Health System