An Evolving Understanding of the Genetic Causes of Abdominal Aortic Aneurysm Disease.
Surg Technol Int
; 26: 197-205, 2015 May.
Article
em En
| MEDLINE
| ID: mdl-26055010
ABSTRACT
Aneurysms of the abdominal aorta (AAA) are relatively common - affecting as many as 8% of men and 1% of women over the age of 65. AAAs are characterized by a 50% increase in the diameter of the aneurysmal aorta compared with the normal vessel. Degeneration of structural components of the aortic wall is believed to be central in the pathogenesis of AAAs. The exact mechanism of degeneration is not well characterized, although degradation of elastin and collagen has been clearly shown. At least six genetic variants have been associated with AAA in genome-wide association studies CDKN2BAS1, DAB2IP, LDLR, LRP1, SORT1, and IL6R. These variants reach genome-wide significance; however, they have not been replicated in multiple cohorts, nor have they been clearly shown to be disease causative. AAA is a challenging disease for investigation because it is most often asymptomatic and generally has a late disease onset, making it difficult to diagnose. Determination of the genetic mechanism behind aneurysm formation, progression, and rupture crosses disciplines requiring input from multiple fields of study, larger patient cohorts, and the evolving modalities of genetic testing.
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Base de dados:
MEDLINE
Assunto principal:
Aneurisma da Aorta Abdominal
Tipo de estudo:
Etiology_studies
Limite:
Aged
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article