Genetics of Asthma and Bronchial Hyperresponsiveness

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: NCT00005359
Recruitment Status : Completed
First Posted : May 26, 2000
Last Update Posted : July 12, 2016
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI)

Brief Summary:
To investigate the genetics of asthma by reexamining a carefully characterized population of patients with asthma, and by studying their families.

Condition or disease
Asthma Lung Diseases

Detailed Description:


The development of asthma requires exposure to inciting agents such as allergens and environmental pollutants, as well as the presence of host or genetic factors. Understanding the genetics of bronchial hyperresponsiveness (BHR) and allergy will delineate mechanisms that are important in the pathogenesis and therapy of asthma. While both genetic and environmental factors and their interactions are felt to be important, their precise role is not fully understood.


The probands are from the 'asthma' center Beatrixoord in Haren, The Netherlands which was started in 1962. In collaboration with Dr Dirkje Postma of Holland, data are available on approximately 1200 patients who were first studied in 1963-1970 using the same protocol. Family studies of the children and grandchildren of these original probands are underway. At this time, 85 complete families have been characterized and clinical data and DNA are available for analysis in Baltimore. Families are being ascertained so that the investigators can test the fit of genetic models through segregation analyses. The major aim of the study is to identify major genes for bronchial hyperresponsiveness (BHR) and asthma by linkage with highly polymorphic DNA markers. Since allergy is commonly associated with asthma, a second goal of the study is to identify major genes for atopy using similar linkage studies. Allergic factors under study include skin test reactivity to common allergens, serum total and specific IgE levels, and blood eosinophilia. Complex segregation analysis will be performed separately for asthma, BHR and allergy. The most parsimonious model from the segregation analysis will be used for linkage analysis. Initially, candidate regions of the genome will be evaluated. Then, a systematic search of the genome will be performed using highly polymorphic informative makers. When a linkage is detected, candidate genes in that specific area will be studied.

The study was renewed in FY 1999 and in FY 2004 to: further characterize asthma and closely related phenotypes; perform genetic modeling (complex segregation analysis) using one and two locus models as well as bivariate segregation analysis; complete the genome wide screen; fine map regions of interest and identify candidate genes, perform linkage disequilibrium and haplotype sharing analyses; and perform case control analysis of susceptibility and severity candidate genes for asthma.

Study Type : Observational
Study Start Date : July 1994
Primary Completion Date : May 2008
Study Completion Date : May 2008

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:   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): NCT00005359

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

Publications: Identifier: NCT00005359     History of Changes
Other Study ID Numbers: 4246
R01HL048341-14 ( U.S. NIH Grant/Contract )
First Posted: May 26, 2000    Key Record Dates
Last Update Posted: July 12, 2016
Last Verified: July 2008

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