Ignite Creation Date:
2024-05-05 @ 11:22 AM
Last Modification Date:
2024-10-26 @ 9:05 AM
Study NCT ID:
NCT00006512
Status:
COMPLETED
Last Update Posted:
2016-01-21
First Post:
2000-11-20
Brief Title:
Characterizing a 5P-Linked BHR Susceptibility Locus
Sponsor:
University of Chicago
Organization:
University of Chicago
Study Overview
Official Title:
None
Status:
COMPLETED
Status Verified Date:
2016-01
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 the predisposing genes responsible for asthma and bronchial hyperresponsiveness BHR at region 5p133 in an inbred Hutterite community
Detailed Description:
BACKGROUND
Asthma is the most common chronic disease in industrialized nations affecting more than10 million people in the US alone Familial aggregation and concordance rates in monozygotic twins have suggested a genetic component to asthma Dr Ober and colleagues have been conducting studies on the genetics of asthma and atopy in the Hutterites an inbred population of European origins that practices a communal lifestyle A genome-wide screen with 564 markers average spacing 6 cM was completed in an extended pedigree of 717 Hutterites who were well characterized with respect to asthma atopy and related phenotypes These individuals are descendants of only 64 ancestors who lived in the early 1700s to the early 1800s Evidence for linkage with bronchial hyperresponsiveness BHR by the likelihood ratio test extended over 30 centimorgans cM on chromosome 5p with P-values as small as 0001 Additional evidence for linkage at this same location was evident by the transmission disequilibrium test P00061 Typing additional markers in this region identified a critical region of 24 cM corresponding to 15 Mb of DNA and a high risk haplotype that is over transmitted to affected individuals
The study was conducted in response to a Request for Applications Positional Candidate Approaches in Asthma Gene Discovery released in Ocatober 1999
DESIGN NARRATIVE
Dr Ober and colleagues characterized the 5p-linked BHR susceptibility locus in the inbred Hutterites by positional cloning and replicating these findings in outbred ethnically diverse populations They examined single nucleotide polymorphisms SNPs spaced about 10 kb apart in each gene and assessed the evidence for over transmission to affected offspring with each SNP and SNP haplotypes Associations in the Hutterites were replicated in two outbred samples a Caucasian sample from Germany and an African American sample from Chicago The functional effects of associated variants were assessed by in vitro assays as well as by genotype-phenotype studies in outbred samples that had been evaluated for asthma and atopy phenotypes Identifying asthma or BHR susceptibility loci may identify novel pathways in asthma pathogenesis thereby allowing for the development of new therapies and intervention strategies for these common diseases
Asthma is the most common chronic disease in industrialized nations affecting more than10 million people in the US alone Familial aggregation and concordance rates in monozygotic twins have suggested a genetic component to asthma Dr Ober and colleagues have been conducting studies on the genetics of asthma and atopy in the Hutterites an inbred population of European origins that practices a communal lifestyle A genome-wide screen with 564 markers average spacing 6 cM was completed in an extended pedigree of 717 Hutterites who were well characterized with respect to asthma atopy and related phenotypes These individuals are descendants of only 64 ancestors who lived in the early 1700s to the early 1800s Evidence for linkage with bronchial hyperresponsiveness BHR by the likelihood ratio test extended over 30 centimorgans cM on chromosome 5p with P-values as small as 0001 Additional evidence for linkage at this same location was evident by the transmission disequilibrium test P00061 Typing additional markers in this region identified a critical region of 24 cM corresponding to 15 Mb of DNA and a high risk haplotype that is over transmitted to affected individuals
The study was conducted in response to a Request for Applications Positional Candidate Approaches in Asthma Gene Discovery released in Ocatober 1999
DESIGN NARRATIVE
Dr Ober and colleagues characterized the 5p-linked BHR susceptibility locus in the inbred Hutterites by positional cloning and replicating these findings in outbred ethnically diverse populations They examined single nucleotide polymorphisms SNPs spaced about 10 kb apart in each gene and assessed the evidence for over transmission to affected offspring with each SNP and SNP haplotypes Associations in the Hutterites were replicated in two outbred samples a Caucasian sample from Germany and an African American sample from Chicago The functional effects of associated variants were assessed by in vitro assays as well as by genotype-phenotype studies in outbred samples that had been evaluated for asthma and atopy phenotypes Identifying asthma or BHR susceptibility loci may identify novel pathways in asthma pathogenesis thereby allowing for the development of new therapies and intervention strategies for these common diseases
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 |
|---|---|---|---|
| R01HL066533 | NIH | None | httpsreporternihgovquickSearchR01HL066533 |