title: Genetic and Epigenetic Regulation of Aortic Aneurysms.
abstract: Aneurysms are characterized by structural deterioration of the vascular wall leading to progressive dilatation and, potentially, rupture of the aorta. While aortic aneurysms often remain clinically silent, the morbidity and mortality associated with aneurysm expansion and rupture are considerable. Over 13,000 deaths annually in the United States are attributable to aortic aneurysm rupture with less than 1 in 3 persons with aortic aneurysm rupture surviving to surgical intervention. Environmental and epidemiologic risk factors including smoking, male gender, hypertension, older age, dyslipidemia, atherosclerosis, and family history are highly associated with abdominal aortic aneurysms, while heritable genetic mutations are commonly associated with aneurysms of the thoracic aorta. Similar to other forms of cardiovascular disease, family history, genetic variation, and heritable mutations modify the risk of aortic aneurysm formation and provide mechanistic insight into the pathogenesis of human aortic aneurysms. This review will examine the relationship between heritable genetic and epigenetic influences on thoracic and abdominal aortic aneurysm formation and rupture.
authors.affiliation: Vascular Biology Center, Augusta University, Augusta, GA, USA.
authors.forename: Ha Won
authors.initials: HW
authors.lastname: Kim
authors.affiliation: Vascular Biology Center, Augusta University, Augusta, GA, USA; Department of Pediatrics, Medical College of Georgia, Augusta University, Augusta, GA, USA.
authors.forename: Brian K
authors.identifier: 0000-0002-1105-8895
authors.initials: BK
authors.lastname: Stansfield
mesh_terms: D000368:Aged; D000375:Aging; D001013:Aorta, Thoracic / Q000503:physiopathology; D017544:Aortic Aneurysm, Abdominal / Q000235:genetics*; D017545:Aortic Aneurysm, Thoracic / Q000235:genetics*; D001019:Aortic Rupture / Q000235:genetics*; D018450:Disease Progression; D044127:Epigenesis, Genetic; D005109:Extracellular Matrix / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007249:Inflammation; D008055:Lipids / Q000737:chemistry; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics; D008957:Models, Genetic; D009130:Muscle, Smooth / Q000378:metabolism; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D017422:Sequence Analysis, DNA; D012907:Smoking; D016212:Transforming Growth Factor beta / Q000378:metabolism
chemical_list: D008055:Lipids; D016212:Transforming Growth Factor beta