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Chronic Obstructive Pulmonary Disease Gene Localization

This study has been completed.
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by:
University of Utah Identifier:
First received: May 20, 2002
Last updated: January 19, 2016
Last verified: January 2016
To localize within the genome a chronic obstructive pulmonary disease susceptibility gene.

Lung Diseases
Chronic Obstructive Pulmonary Disease

Study Type: Observational

Resource links provided by NLM:

Further study details as provided by University of Utah:

Study Start Date: April 2001
Estimated Study Completion Date: March 2004
Detailed Description:


Chronic obstructive pulmonary disease (COPD) is a slowly progressive disorder characterized by airways obstruction that lasts for at least several months. The two major causes of COPD are chronic bronchitis and emphysema. Either disorder may occur with or without airways obstruction, but airways obstruction causes impairment of lung function leading to disability and death. COPD is a major health problem in the United States and throughout the world, consistently ranking among the most common causes of death in the United States. Cigarette smoking is the primary environmental factor that increases the risk of COPD, but other environmental factors have also been implicated. However, despite a well-established role, environmental factors alone do not cause COPD. Symptomatic COPD develops in only 10-20 percent of heavy cigarette smokers, probably those with a genetic susceptibility, although common COPD susceptibility genes have yet to be identified.


The study applied statistical linkage analysis to family data. Pulmonary measurements had already been collected on 159 members of 16 pedigrees and evidence supporting a COPD susceptibility gene in these pedigrees had been obtained from segregation analysis. Each of 11,995 genetic markers, which had already been genotyped on pedigree members, were tested for evidence of linkage to the inferred COPD susceptibility gene. Evidence of linkage to one or more genetic markers identifed genomic locations of COPD susceptibility genes. The high density of markers allowed fine-mapping of the gene. Successful completion of this gene localization project was the necessary prerequisite for a project to identify and characterize a COPD susceptibility gene. Identifying a gene that when mutated increased the risk of COPD may increase understanding of pulmonary function, as well as allowing gene-carriers to be identified and made aware of their susceptibility.


Ages Eligible for Study:   up to 100 Years   (Child, Adult, Senior)
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
No eligibility criteria
  Contacts and Locations
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Please refer to this study by its identifier: NCT00037739

Sponsors and Collaborators
University of Utah
National Heart, Lung, and Blood Institute (NHLBI)
OverallOfficial: Sandra Hasstedt University of Utah
  More Information

Publications: Identifier: NCT00037739     History of Changes
Other Study ID Numbers: 1175  R01HL067469 
Study First Received: May 20, 2002
Last Updated: January 19, 2016
Health Authority: United States: Federal Government

Additional relevant MeSH terms:
Lung Diseases
Lung Diseases, Obstructive
Pulmonary Disease, Chronic Obstructive
Respiratory Tract Diseases processed this record on October 28, 2016