11 Sep 2011: Study Reveals Risk Factor Doubling Chance of Developing Silent Killer

University of Texas Health Medical School and Baylor College of Medicine Research: Common Gene Variant Associated with Aortic Dissection

Multi-institutional study reveals risk factor that doubles chance of developing silent killer.

11 Sep 2011


Recent results of research published in the Sept. 11, 2011 advance online issue of Nature Genetics show that researchers at The University of Texas Health Science Centre at Houston (UTHealth) and Baylor College of Medicine have found an association with a common genetic variant that predisposes individuals to acute dissections and can approximately double their chance of having the disease.

An aortic aneurysm is the widening or ballooning of the aorta. Aortic aneurysms generally enlarge overtime without symptoms which ultimately results in aortic dissection. A dissection is a tear in the aorta causing blood to flow between its layers and is a life threatening event with up to 40 percent of patients dying suddenly. This is why it is called the “silent killer”. Identification of aneurysms are critical since surgical intervention can prevent dissections and thus knowing who is at risk for the disorder is of great importance.

“This is the first time we’ve found an association with a common genetic variant in the population that predisposes people to thoracic aortic aneurysms that cause acute aortic dissections. This variant in the DNA is on chromosome 15 (15q21.1) and involves a gene called FBN1. We already know that mutations in this gene cause Marfan syndrome, which is a genetic syndrome that strongly predisposes individuals to aortic dissections but also causes people to grow tall and have weak eyes,” said Milewicz, who is also director of the Division of Medical Genetics at the UTHealth Medical School and heads the UTHealth John Ritter Research Program in Aortic and Vascular Diseases.” Although patients with aortic dissection in our study did not have Marfan syndrome, this study suggests that the same pathways are involved in causing aortic dissections in patients with and without Marfan syndrome.

Senior author of the publication is Dianna M. Milewicz, M.D., Ph.D., professor and the President George H.W. Bush Chair in Cardiovascular Research at The University of Texas Medical School at Houston, part of UTHealth. Dr. Milewicz serves as a member of both the National Marfan Foundation and Canadian Marfan Association’s Professional Advisory Board and is Chair of the Steering Committee for the Thoracic Aortic Disease (TAD) Coalition.

Please visit http://www.prweb.com/releases/2011/9/prweb8786044.htm for the full release.

Please visit http://www.nature.com for the abstract and to purchase the article. 


Sharmin Jamal