Genetic Basis of Abdominal Aortic Aneurysm

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00005526
Recruitment Status : Completed
First Posted : May 26, 2000
Last Update Posted : May 13, 2016
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI)

Brief Summary:
To identify the genetic (major genes) and environmental factors responsible for the significant aggregation of abdominal aortic aneurysm (AAA) among relatives of affected individuals.

Condition or disease
Cardiovascular Diseases Heart Diseases Aortic Aneurysm, Abdominal

Detailed Description:


Abdominal aortic aneurysm (AAA) is a dilatation of the abdominal aorta which can, if undetected, lead to rupture. The mortality associated with ruptured AAA is estimated to be 90 percent, while elective repair has a mortality risk of approximately 6 percent. Ruptured AAA is a leading cause of death among older Americans. The identification of markers of AAA risk could lead to preventive intervention. AAA aggregates in families, and segregation analysis shows that familial risk of AAA is best explained by the segregation of a major gene with an autosomal recessive mode of inheritance.


Affected relative pairs (primarily sibling pairs) with AAA and no evidence of a family history of a connective tissue disorder were genotyped for 150 highly informative microsatellite polymorphisms marking the autosomal genome at a resolution of 20 cM. The linkage between AAA and these loci was tested using robust affected pedigree member methods to identify genomic regions which might contain genes that predisposed individuals to develop AAA. The existence of predisposing gene(s) were confirmed and their location refined using a defined search strategy, genotyping at increasing levels of resolution, and re-analysis of family data. The predisposing gene(s) were identified by a combination of saturation mapping and molecular analysis of candidate loci. The association of AAA with environmental measures was investigated to determine an equation for estimating risk for relatives of AAA patients based upon environmental measures and genotype. Power calculations based upon the number and structure of families already collected demonstrated the feasibility of identifying genes that predisposed to AAA using this strategy, even in the presence of significant heterogeneity with respect to the loci involved. In addition to identifying genes that were necessary for AAA by linkage analysis, a series of analyses of association were undertaken to identify true susceptibility genes that were neither necessary nor sufficient to cause disease, but which modified an individual's risk of developing AAA.

The study completion date listed in this record was obtained from the "End Date" entered in the Protocol Registration and Results System (PRS) record.

Study Type : Observational
Study Start Date : August 1991
Actual Study Completion Date : November 2001

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Ages Eligible for Study:   up to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
No eligibility criteria

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00005526

Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
OverallOfficial: Robert Ferrell University of Pittsburgh

Publications: Identifier: NCT00005526     History of Changes
Other Study ID Numbers: 5058
R01HL044682 ( U.S. NIH Grant/Contract )
First Posted: May 26, 2000    Key Record Dates
Last Update Posted: May 13, 2016
Last Verified: August 2004

Additional relevant MeSH terms:
Cardiovascular Diseases
Heart Diseases
Aortic Aneurysm
Aortic Aneurysm, Abdominal
Vascular Diseases
Aortic Diseases