Ignite Creation Date:
2024-05-05 @ 11:07 AM
Last Modification Date:
2024-10-26 @ 9:05 AM
Study NCT ID:
NCT00005526
Status:
COMPLETED
Last Update Posted:
2016-05-13
First Post:
2000-05-25
Brief Title:
Genetic Basis of Abdominal Aortic Aneurysm
Sponsor:
National Heart Lung and Blood Institute NHLBI
Organization:
National Heart Lung and Blood Institute NHLBI
Study Overview
Official Title:
None
Status:
COMPLETED
Status Verified Date:
2004-08
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
Detailed Description:
BACKGROUND
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
DESIGN NARRATIVE
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 genes 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 genes 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 individuals 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
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
DESIGN NARRATIVE
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 genes 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 genes 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 individuals 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 Oversight
Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
Is an Unapproved Device?:
Is a PPSD?:
Is a US Export?:
Is an FDA AA801 Violation?:
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| R01HL044682 | NIH | None | httpsreporternihgovquickSearchR01HL044682 |