Opportunities in abdominal aortic aneurysm research: epidemiology, genetics, and pathophysiology.
Aortic aneurysms are a complex genetic disorder with known environmental risk factors such as smoking. Along the length of the aorta, significant heterogeneity occurs in the distribution of aneurysmal disease. The prevalence of aneurysm in the abdominal aorta is at least nine times higher than that in the thoracic section of the aorta. A number of studies have shown that aortic aneurysms are frequently familial, even when they are not associated with rare heritable disorders such as Marfan syndrome or Ehlers-Danlos syndrome type IV. The pathobiology of aortic aneurysms is complex and largely unsolved. Unbiased whole-genome approaches are now being used to elucidate the genetic basis of aortic aneurysms to uncover the germline genetic variants that influence the disease risk. The findings will provide critical information about underlying biology of the disease and will help identify potential targets for pharmacological therapies. These studies may lead to therapies that may increase survival rates for individuals with aortic aneurysms and reduce the need for surgical interventions. Abdominal aortic aneurysms were the topic of an international conference "Abdominal Aortic Aneurysm: Epidemiology, Genetics, and Pathophysiology" held recently at the Geisinger Clinic, Danville, Pennsylvania.
Department of Vascular and Endovascular Surgery, The Sigfried and Janet Weis Center for Research, Geisinger Clinic, Danville, PA 17822-2610, USA. shkuivaniemi@geisinger.edu
Helena
H
Kuivaniemi
James R
JR
Elmore
D000818:Animals; D017544:Aortic Aneurysm, Abdominal / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D001019:Aortic Rupture / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D035843:Biomedical Research; D003226:Congresses as Topic; D004195:Disease Models, Animal; D004777:Environment; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D008403:Mass Screening / Q000379:methods; D010375:Pedigree; D011379:Prognosis; D018570:Risk Assessment; D012307:Risk Factors
D005819:Genetic Markers