Abdominal aortic aneurysm: a review of the genetic basis

Angiology. 2011 Jan;62(1):18-32. doi: 10.1177/0003319710373092. Epub 2010 Jun 21.

Abstract

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.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Aortic Aneurysm, Abdominal / genetics*
  • HLA Antigens / genetics
  • Humans
  • Interleukins / genetics
  • Matrix Metalloproteinases / genetics
  • Peptidyl-Dipeptidase A / genetics
  • Tissue Inhibitor of Metalloproteinases / genetics

Substances

  • HLA Antigens
  • Interleukins
  • Tissue Inhibitor of Metalloproteinases
  • Peptidyl-Dipeptidase A
  • Matrix Metalloproteinases