Identification of an Asthma Susceptibility Gene on 3P

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: NCT00006510
Recruitment Status : Completed
First Posted : November 21, 2000
Last Update Posted : July 29, 2016
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI)

Brief Summary:
To identify susceptibility genes associated with asthma and asthma related phenotypes.

Condition or disease
Asthma Lung Diseases

Detailed Description:


Asthma is an increasingly common disease caused by bronchial inflammation and characterized by bronchial hyperresponsiveness and intermittent airways obstruction. The development of asthma is most likely determined by an interaction between host susceptibility and environmental exposures. Bronchial hyperresponsiveness (BHR) and elevated total serum IgE levels, characteristic findings in asthma, have been shown to have strong genetic components. The identification of the genetic factors that regulate susceptibility to asthma has important public health consequences, and may lead to an improved understanding of the pathogenesis of asthma. This may lead to improved preventive measures and new therapeutic approaches.

The study is in response to a Request for Applications on "Positional Candidate Gene Approaches in Asthma Gene Discovery" issued in October 1999.


In an effort to delineate genetic susceptibility to asthma, Dr. Bleecker and colleagues have identified several regions of the genome that contain potential asthma susceptibility genes using a Dutch population of 200 families ascertained through a proband with asthma. The two regions with the strongest evidence for linkage after completing a genome screen were located on chromosomes 3p14-p21 and 5q31. They will identify the asthma susceptibility gene located on chromosome 3p using the Dutch families and determine its contribution to this disease in other populations. There are six specific aims in the study. The first is to develop a high-resolution genetic map of the candidate region on chromosome 3p14-p21. The second aim is to construct a correlated genetic and physical map of the candidate region on chromosome 3p. The third aim is to genotype an additional cohort of Dutch trios (one affected child and both parents) to identify haplotypes and to confirm case-control candidate gene studies. The fourth aim is to analyze known and novel genes from the candidate region using a case-control study design in the same population. The fifth aim is to determine the contribution of the chromosome 3p asthma susceptibility gene in other populations including the U.S. Collaborative Study for the Genetics of Asthma (CSGA) and Dr. Ober's Hutterite population. The sixth aim is to characterize the identified single nucleotide polymorphism (SNP) or haplotype that contributes to asthma susceptibility. There will be interaction with other investigators to determine the impact of each genetic locus and to investigate gene-gene interactions.

Study Type : Observational
Study Start Date : September 2000
Primary Completion Date : August 2006
Study Completion Date : August 2006

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Asthma
U.S. FDA Resources

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 100 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
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): NCT00006510

Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
OverallOfficial: Eugene Bleecker Wake Forest University

Publications: Identifier: NCT00006510     History of Changes
Other Study ID Numbers: 946
R01HL066393 ( U.S. NIH Grant/Contract )
First Posted: November 21, 2000    Key Record Dates
Last Update Posted: July 29, 2016
Last Verified: January 2008

Additional relevant MeSH terms:
Lung Diseases
Bronchial Diseases
Respiratory Tract Diseases
Lung Diseases, Obstructive
Respiratory Hypersensitivity
Hypersensitivity, Immediate
Immune System Diseases