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Aneurysm Study Uses Gene Bank Samples

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September 28, 2004

In a major milestone in genetic research at Northwestern University, a study on the possible genetic causes of abdominal aortic aneurysms will be the first to use samples from NUgene, the University’s gene banking project.

William Pearce, M.D., professor of surgery and chief of vascular surgery at Northwestern University Feinberg School of Medicine and Northwestern Memorial Hospital, hopes to further his ongoing research on the genetics of abdominal aortic aneurysms by comparing samples from participants with a history of the condition against samples from healthy participants from the NUgene Project.

Pearce will examine a series of genes, including interleukin 1-beta (IL-1 beta) and tumor necrosis factor-alpha (TNF-alpha), which have been implicated in chronic inflammation associated with certain other conditions, to determine if changes in these genes are more common in patients who have had an aneurysm.

Should a significant association be determined, physicians one day may be able to screen patients for genetic predisposition markers for aneurysms.

This information also may aid in the development of drug therapies to treat and prevent aneurysms.

An aortic aneurysm is a bulge in the aorta, the large artery that carries blood from the heart to the rest of the body. Aneurysms can lead to blood clots, stroke or death if not immediately treated.

The leading risk factors for aortic aneurysms are advanced age, male gender, smoking, family history and atherosclerosis. The incidence of aortic aneurysms is 3 percent in individuals age 50 and older.

Abdominal aortic aneurysms are characterized by chronic inflammation of the arterial wall that ultimately leads to the destruction of the structural proteins that provide the strength and elasticity required to maintain blood flow.

Left untreated, aneurysm continue to grow and may eventually rupture, leading to possible death.

The chronic inflammation seen in abdominal aortic aneurysms is associated with a group of proteins called pro-inflammatory cytokines.  Differences in the genetic sequences for several cytokines found in tissue from abdominal aortic aneurysms have been described in other inflammatory diseases, such as rheumatoid arthritis and Alzheimer’s disease. 

Pearce will isolate and compare DNA from blood samples from a group of participants with a history of abdominal aortic aneurysms and also from a disease control group consisting of participants with vascular diseases other than aortic aneurysms, as well as from ethnically matched control samples from NUgene participants without a history of vascular disease or chronic inflammation. 

DNA sequences of relevant pro-inflammatory cytokines will be compared between these groups of participants and controls.  Pearce will examine whether certain gene sequences are associated with abdominal aortic aneurysms or other vascular diseases.

NUgene, one of the first gene banking projects in the United States, began enrolling participants from the Feinberg School’s affiliated health care institutions in 2002. The NUgene Project is led b

Topics: Research