Genetics of Asthma and Bronchial Hyperresponsiveness

July 11, 2016 updated by: National Heart, Lung, and Blood Institute (NHLBI)
To investigate the genetics of asthma by reexamining a carefully characterized population of patients with asthma, and by studying their families.

Study Overview

Status

Completed

Conditions

Detailed Description

BACKGROUND:

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.

DESIGN NARRATIVE:

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

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 100 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Male

Description

No eligibility criteria

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Investigators

  • Deborah Meyers, Wake Forest University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

July 1, 1994

Primary Completion (Actual)

May 1, 2008

Study Completion (Actual)

May 1, 2008

Study Registration Dates

First Submitted

May 25, 2000

First Submitted That Met QC Criteria

May 25, 2000

First Posted (Estimate)

May 26, 2000

Study Record Updates

Last Update Posted (Estimate)

July 12, 2016

Last Update Submitted That Met QC Criteria

July 11, 2016

Last Verified

July 1, 2008

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 4246
  • R01HL048341-14 (U.S. NIH Grant/Contract)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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