Collaborative Studies on the Genetics of Asthma (CSGA)

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: NCT00005500
Recruitment Status : Completed
First Posted : May 26, 2000
Last Update Posted : October 24, 2017
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
University of Minnesota - Clinical and Translational Science Institute

Brief Summary:
To conduct molecular genetic studies in human pedigrees in order to identify the major genes responsible for asthma.

Condition or disease
Asthma Lung Diseases

Detailed Description:


Asthma is a respiratory disease characterized by variable airways obstruction, airways inflammation and bronchial hyperresponsiveness (BHR). There are recent increases in asthma mortality and prevalence in the US, especially in African-Americans. Multiple studies suggest that both genetic and environmental factors are important in asthma susceptibility.

The study was recommended by the Pulmonary Diseases Advisory Committee at its February 1991 meeting and given concept approval by the May 1991 National Heart, Lung, and Blood Advisory Council. The Request for Applications was released in October 1992.


The CSGA was composed of five centers (Johns Hopkins University, University of Chicago, University of Maryland, University of Minnesota, and a data coordinating center at Wake Forest). At each center, families were ascertained through two siblings with asthma. All family members were characterized with spirometry, bronchial responsiveness to methacholine or reversibility testing, skin-tests and questionnaire data. The initial genome screen was completed on the first 237 sib pairs from three racial groups (African-American, Caucasian and Hispanic), and genotyping on the remaining family members and families was completed before the study was renewed in 1997. Therefore, the initial aim of the CSGA to map susceptibility regions was completed, with detection of several novel chromosomal regions, and replication of several regions previously linked to associated phenotypes.

In order to determine the importance of these regions in asthma susceptibility and the impact of environmental rink factors, the investigators l) evaluated the evidence for linkage in the complete CSGA data using 2-point, multipoint and multilocus approaches for asthma and associated phenotypes (including BHR, total serum IgE and skin test reactivity to standardized allergens); 2) performed fine mapping studies of regions using additional genetic markers to obtain a < 2 cM map; 3) identified candidate genes and novel sequence variants; and 4) characterized a patient population with asthma to study identified variants with respect to asthma severity and bronchial inflammation. These studies allowed identification of asthma susceptibility genes and their variants, interactions with other genes and environmental risk factors, as well as provided insight for the development of improved treatment and ultimate prevention of asthma.

Study Type : Observational
Actual Enrollment : 50 participants
Observational Model: Cohort
Time Perspective: Retrospective
Study Start Date : September 1992
Actual Primary Completion Date : August 2002
Actual Study Completion Date : August 2002

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Asthma

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   Male
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): NCT00005500

Sponsors and Collaborators
University of Minnesota - Clinical and Translational Science Institute
National Heart, Lung, and Blood Institute (NHLBI)
OverallOfficial: Terri Beatty Johns Hopkins University
OverallOfficial: Eugene Bleecker University of Maryland
OverallOfficial: Malcolm Blumenthal University of Minnesota, MN
OverallOfficial: Carole Ober University of Chicago
OverallOfficial: Stephen Rich Wake Forest University


Responsible Party: University of Minnesota - Clinical and Translational Science Institute Identifier: NCT00005500     History of Changes
Other Study ID Numbers: 5018
U01HL049609 ( U.S. NIH Grant/Contract )
First Posted: May 26, 2000    Key Record Dates
Last Update Posted: October 24, 2017
Last Verified: October 2017

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