University of OtagoA prior report suggested people with aortic aneurysm face an elevated risk of developing brain aneurysms. Aortic aneurysm is known to be term for swelling of the aorta. A recent study conducted in a multi-national collaboration supposedly discovered a novel genetic marker for elevated risk of abdominal aortic aneurysm (AAA) and other common diseases of the arteries and veins.

Understanding the newly found genetic marker, may aid in distinguishing people with a heightened risk for AAA. Many a times the ailment remains undiagnosed, with almost seven per cent of New Zealand men over the age of 60 facing a threat. The experts revealed that the large blood vessel supplying blood to the abdomen, pelvis and legs become extremely large or balloon outward during the disease. The disease apparently proves to be fatal in patients suffering with aneurysm ruptures between 40-80%.

Dr Greg Jones associate professor quoted, “In combination with other genetic risk factors for AAA that are already known, several of which we were involved in discovering, this finding will aid efforts to pinpoint people at greatest risk and allow for earlier interventions.”
While undertaking the research, the scientists scanned the genetic make-up of patients with AAA and other vascular diseases. They then compared the results with those of similar but healthy individuals. It was then noted that non-genetic risk factors like smoking, bad cholesterol, obesity, type 2 diabetes and high blood pressure are not probably linked with heightened risk. Therefore, individuals with this genetic variant and any or all risk factors seem to be more likely to develop AAA and other vascular diseases.

Dr Jones commented, “With our international colleagues we have shown that individuals with a common variant in a gene known as DAB2IP have a significantly increased risk of developing AAA. Interestingly, we also found this genetic marker was associated with a similarly heightened risk of suffering early-onset heart attacks, peripheral arterial disease and pulmonary embolisms.”

Once the mechanisms involved are clarified, new therapies for various vascular diseases may be presented. The studies also highlight diseases of the arteries to be different from the disorders of the veins.

Dr Jones shared, “The variant’s increased risk for several arterial diseases and for pulmonary embolism, which is a vein-related disease, suggests that common underlying physiological factors are at work.”

The researchers from the University of Otago claim to have conducted a separate analysis for the link between the DAB2IP gene and genome-wide association scan.

The study is published in the journal Nature Genetics.