Abdominal Aortic Aneurysm: A Review of the Genetic Basis

Background: Abdominal aortic aneurysm (AAA) is a complex disease with a largely unknown pathophysiological background and a strong genetic component. Various studies have tried to link specific genetic variants with AAA. Methods: Systematic review of the literature (1947-2009). Results: A total of 249 studies were identified, 89 of which were eventually deemed relevant to this review. Genetic variants (polymorphisms) in a wide variety of genes, most of which encode proteolytic enzymes and inflammatory molecules, have been associated with AAA development and progression. Conclusion: The genetic basis of AAA remains unknown, and most results from ‘‘candidate-gene’’ association studies are contradictory. Further analyses in appropriately powered studies in large, phenotypically well-characterized populations, including genome-wide association studies, are necessary to elucidate the exact genetic contribution to the pathophysiology of AAA.