title: Genetics of abdominal aortic aneurysm.
abstract: OBJECTIVE
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: The Vascular Biology Unit, Queensland Research Centre for Peripheral Vascular Disease, School of Medicine and Dentistry, James Cook University, Townsville, Australia. Jonathan.Golledge@jcu.edu.au
authors.forename: Jonathan
authors.initials: J
authors.lastname: Golledge
authors.forename: Helena
authors.initials: H
authors.lastname: Kuivaniemi
mesh_terms: D000818:Animals; D017544:Aortic Aneurysm, Abdominal / Q000235:genetics*; D001019:Aortic Rupture / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D050762:Cyclin-Dependent Kinase Inhibitor p15 / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D026503:Low Density Lipoprotein Receptor-Related Protein-1 / Q000235:genetics*; D051379:Mice; D011973:Receptors, LDL / Q000235:genetics; D012307:Risk Factors; D025521:Tumor Suppressor Proteins / Q000235:genetics; D020703:ras GTPase-Activating Proteins / Q000235:genetics*
chemical_list: C493966:CDKN2B protein, human; D050762:Cyclin-Dependent Kinase Inhibitor p15; C462952:DAB2IP protein, human; C475476:LRP1 protein, human; D026503:Low Density Lipoprotein Receptor-Related Protein-1; C486645:Lrp1 protein, mouse; D011973:Receptors, LDL; D025521:Tumor Suppressor Proteins; D020703:ras GTPase-Activating Proteins