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Identification of an Asthma Susceptibility Gene on 3P

This study has been completed.
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI) Identifier:
First received: November 20, 2000
Last updated: July 28, 2016
Last verified: January 2008
To identify susceptibility genes associated with asthma and asthma related phenotypes.

Asthma Lung Diseases

Study Type: Observational

Further study details as provided by National Heart, Lung, and Blood Institute (NHLBI):

Study Start Date: September 2000
Study Completion Date: August 2006
Primary Completion Date: August 2006 (Final data collection date for primary outcome measure)
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.


Ages Eligible for Study:   up to 100 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
No eligibility criteria
  Contacts and Locations
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Please refer to this study by its identifier: NCT00006510

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

Publications: Identifier: NCT00006510     History of Changes
Other Study ID Numbers: 946
R01HL066393 ( U.S. NIH Grant/Contract )
Study First Received: November 20, 2000
Last Updated: July 28, 2016

Additional relevant MeSH terms:
Lung Diseases
Bronchial Diseases
Respiratory Tract Diseases
Lung Diseases, Obstructive
Respiratory Hypersensitivity
Hypersensitivity, Immediate
Immune System Diseases processed this record on August 18, 2017