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Characterizing a 5P-Linked BHR Susceptibility Locus

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: NCT00006512
Recruitment Status : Completed
First Posted : November 21, 2000
Last Update Posted : January 21, 2016
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
University of Chicago

Tracking Information
First Submitted Date November 20, 2000
First Posted Date November 21, 2000
Last Update Posted Date January 21, 2016
Study Start Date September 2000
Actual Primary Completion Date August 2005   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures Not Provided
Original Primary Outcome Measures Not Provided
Change History Complete list of historical versions of study NCT00006512 on Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Outcome Measures Not Provided
Original Other Outcome Measures Not Provided
Descriptive Information
Brief Title Characterizing a 5P-Linked BHR Susceptibility Locus
Official Title Not Provided
Brief Summary To identify the predisposing genes responsible for asthma and bronchial hyperresponsiveness (BHR) at region 5p13.3 in an inbred Hutterite community.
Detailed Description


Asthma is the most common chronic disease in industrialized nations, affecting more than10 million people in the U.S. 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 1700's to the early 1800's. 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 0.001. Additional evidence for linkage at this same location was evident by the transmission disequilibrium test (P=0.0061). Typing additional markers in this region identified a critical region of 2.4 cM, corresponding to 1.5 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.


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 Type Observational
Study Design Not Provided
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Not Provided
Study Population Not Provided
  • Asthma
  • Lung Diseases
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Completed
Enrollment Not Provided
Original Enrollment Not Provided
Actual Study Completion Date August 2005
Actual Primary Completion Date August 2005   (Final data collection date for primary outcome measure)
Eligibility Criteria No eligibility criteria
Sexes Eligible for Study: All
Ages up to 100 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Not Provided
Removed Location Countries  
Administrative Information
NCT Number NCT00006512
Other Study ID Numbers 948
R01HL066533 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party University of Chicago
Study Sponsor University of Chicago
Collaborators National Heart, Lung, and Blood Institute (NHLBI)
Investigator: Carole Ober University of Chicago
PRS Account University of Chicago
Verification Date January 2016