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Genetics of abdominal aortic aneurysm

Golledge, Jonathana; Kuivaniemi, Helenab

Current Opinion in Cardiology: May 2013 - Volume 28 - Issue 3 - p 290–296
doi: 10.1097/HCO.0b013e32835f0d55
MOLECULAR GENETICS: Edited by Ali J. Marian

Purpose of review Family history is a risk factor for abdominal aortic aneurysm (AAA), suggesting that genetic factors play an important role in AAA development, growth and rupture. Identification of these factors could improve understanding of the AAA pathogenesis and be useful to identify at risk individuals.

Recent findings Many approaches are used to examine genetic determinants of AAA, including genome-wide association studies (GWAS) and DNA linkage studies. Two recent GWAS have identified genetic markers associated with an increased risk of AAA located within the genes for DAB2 interacting protein (DAB2IP) and low density lipoprotein receptor-related protein 1 (LRP1). In addition, a marker on 9p21 associated with other vascular diseases is also strongly associated with AAA. The exact means by which these genes currently control AAA risk is not clear; however, in support of these findings, mice with vascular smooth muscle cell deficiency of Lrp1 are prone to aneurysm development. Further current work is concentrated on other molecular mechanisms relevant in AAA pathogenesis, including noncoding RNAs such as microRNAs.

Summary Current studies assessing genetic mechanisms for AAA have significant potential to identify novel mechanisms involved in AAA pathogenesis of high relevance to better clinical management of the disease.

aThe Vascular Biology Unit, Queensland Research Centre for Peripheral Vascular Disease, School of Medicine and Dentistry, James Cook University, Townsville, Australia

bSigfried and Janet Weis Center for Research, Geisinger Clinic, Danville, Pennsylvania, USA

Correspondence to Jonathan Golledge, MChir, Professor of Vascular Surgery, School of Medicine and Dentistry, James Cook University, Townsville 4811, Australia. Tel: +61 7 4796 1417; fax: +61 7 4796 1401; e-mail:

© 2013 Lippincott Williams & Wilkins, Inc.