Genetics of abdominal aortic aneurysm

Golledge, Jonathan, and Kuivaniemi, Helena (2013) Genetics of abdominal aortic aneurysm. Current Opinion in Cardiology, 28 (3). pp. 290-296.

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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.

Item ID: 27071
Item Type: Article (Research - C1)
ISSN: 1531-7080
Keywords: abdominal aortic aneurysm, genetic association studies, genetic susceptibility, microRNA, twin studies
Funders: BUPA, National Health and Medical Research Council (NHMRC), Queensland Government
Projects and Grants: BUPA/NHMRC grant 1020955, BUPA/NHMRC grant 1022752, BUPA/NHMRC grant 1021416, BUPA/NHMRC grant 1002707, BUPA/NHMRC grant 1000967, NHMRC Practitioner Fellowship 1019921, Queensland Government Senior Clinical Research Fellowship
Date Deposited: 22 May 2013 09:13
FoR Codes: 11 MEDICAL AND HEALTH SCIENCES > 1102 Cardiovascular Medicine and Haematology > 110201 Cardiology (incl Cardiovascular Diseases) @ 100%
SEO Codes: 92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920103 Cardiovascular System and Diseases @ 100%
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