Ignite Creation Date:
2024-05-05 @ 9:36 AM
Last Modification Date:
2024-10-26 @ 9:05 AM
Study NCT ID:
NCT00006511
Status:
COMPLETED
Last Update Posted:
2016-02-18
First Post:
2000-11-20
Brief Title:
Chromosome 5Q Gene Variants and Asthma-Related Traits
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:
2006-01
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 gene variants in human chromosome 5Q31-33 that may be involved in the pathogenesis of asthma
Detailed Description:
BACKGROUND
Markers and genes in chromosomal region 5q31-33 have been shown to be linked or associated to asthma or components of the asthma phenotype suggesting that this chromosomal region is important in the genetic susceptibility to asthma yet it has been difficult to show that a specific gene in this region plays a major role in asthma development or progression Some of this difficulty arises from the fact that many genes are likely to be involved in the pathogenesis of asthma with no single gene having an effect that will emerge as a major contributor as well as the fact that the strong influence of environmental factors will complicate the analyses Having recognized these issues the investigators will use components of the asthma-associated phenotype including eosinophilia and a compound atopy phenotype to identify relevant asthma-related genes in this region The identification of the genes and their genetic variants that may be associated with asthma and its related phenotypes may provide important new information on the pathogenesis of asthma
The study is in response to a Request for Applications on Positional Candidate Approaches in Asthma Gene Discovery released in October 1999
DESIGN NARRATIVE
Dr Martinez and his group have found linkage between markers in chromosome 5q31 and both eosinophilia and a composite atopy phenotype The goal of the study is to identify the gene variants in 5q31-33 that are responsible for these two linkage signals This will be done using the same population of families enrolled in the Tucson Childrens Respiratory Study that have now been followed since the time of birth of the index child approximately 18 years ago In the first specific aim gene variants having a frequency of 2 or more in a group of 25 known genes in chromosome 5q will be identified The 25 genes have been selected among those that have been mapped to the 28 cM interval that was tested for linkage in previous studies The second specific aim is to perform linkage disequilibrium mapping using 100 known polymorphisms in the region of approximately 64 cM that shows the highest likelihood of containing the gene variants responsible for either or both of the eosinophilia and atopy linkage signals Detailed local mapping using both published and newly discovered polymorphisms in and around the areas of positive signals will also be performed Based on the previous experience of these investigators for the same chromosomal region several associationlinkage signals in chromosome 5q are expected to be found
The study completion date listed in this record was obtained from the End Date entered in the Protocol Registration and Results System PRS record
Markers and genes in chromosomal region 5q31-33 have been shown to be linked or associated to asthma or components of the asthma phenotype suggesting that this chromosomal region is important in the genetic susceptibility to asthma yet it has been difficult to show that a specific gene in this region plays a major role in asthma development or progression Some of this difficulty arises from the fact that many genes are likely to be involved in the pathogenesis of asthma with no single gene having an effect that will emerge as a major contributor as well as the fact that the strong influence of environmental factors will complicate the analyses Having recognized these issues the investigators will use components of the asthma-associated phenotype including eosinophilia and a compound atopy phenotype to identify relevant asthma-related genes in this region The identification of the genes and their genetic variants that may be associated with asthma and its related phenotypes may provide important new information on the pathogenesis of asthma
The study is in response to a Request for Applications on Positional Candidate Approaches in Asthma Gene Discovery released in October 1999
DESIGN NARRATIVE
Dr Martinez and his group have found linkage between markers in chromosome 5q31 and both eosinophilia and a composite atopy phenotype The goal of the study is to identify the gene variants in 5q31-33 that are responsible for these two linkage signals This will be done using the same population of families enrolled in the Tucson Childrens Respiratory Study that have now been followed since the time of birth of the index child approximately 18 years ago In the first specific aim gene variants having a frequency of 2 or more in a group of 25 known genes in chromosome 5q will be identified The 25 genes have been selected among those that have been mapped to the 28 cM interval that was tested for linkage in previous studies The second specific aim is to perform linkage disequilibrium mapping using 100 known polymorphisms in the region of approximately 64 cM that shows the highest likelihood of containing the gene variants responsible for either or both of the eosinophilia and atopy linkage signals Detailed local mapping using both published and newly discovered polymorphisms in and around the areas of positive signals will also be performed Based on the previous experience of these investigators for the same chromosomal region several associationlinkage signals in chromosome 5q are expected to be found
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 |
|---|---|---|---|
| R01HL066447 | NIH | None | httpsreporternihgovquickSearchR01HL066447 |