The genetic basis of abdominal aortic aneurysms: a review

Abstract

Introduction: The pathogenesis of abdominal aortic aneurysm (AAA) remains poorly understood, however significant evidence has emerged in recent years to suggest a chronic inflammatory process. Observational studies have highlighted a familial trend towards AAA development among relatives of affected individuals and it is thought that inflammatory genes may influence an individual's susceptibility. Conflicting reports exist over single gene versus multiple gene inheritance patterns in addition to a collection of studies examining individual inflammatory genes. This paper reviews the evidence for a genetic predisposition to aneurysm formation including familial and segregation studies in addition to experimental evidence investigating specific candidate genes.

Method: Medline and Pubmed database searches were conducted using the search terms abdominal aortic aneurysm and gene. Papers were reviewed and references manually searched for further relevant publications which were added to the data. Papers were categorised under the headings familial, segregation and candidate gene studies.

Results: A review of 58 papers is presented under sub-headings as above. In the case of the candidate gene section, a brief report of the functional relevance of each gene is included.

Conclusion: A summary of the evidence presented is given and the direction of future work in this field is briefly considered.