Chronic Obstructive Pulmonary Disease Gene Localization

To localize within the genome a chronic obstructive pulmonary disease susceptibility gene.

Study Overview

• Status: Completed
• Conditions: Lung Diseases; Chronic Obstructive Pulmonary Disease

Detailed Description

BACKGROUND:

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.

DESIGN NARRATIVE:

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.

• Study Type: Observational

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 100 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

No eligibility criteria

Study Plan

How is the study designed?

Collaborators and Investigators

• Sponsor: University of Utah
• Collaborators: National Heart, Lung, and Blood Institute (NHLBI)
• Investigators: Sandra Hasstedt, University of Utah

Publications and helpful links

General Publications

• Malhotra A, Peiffer AP, Ryujin DT, Elsner T, Kanner RE, Leppert MF, Hasstedt SJ. Further evidence for the role of genes on chromosome 2 and chromosome 5 in the inheritance of pulmonary function. Am J Respir Crit Care Med. 2003 Sep 1;168(5):556-61. doi: 10.1164/rccm.200303-410OC. Epub 2003 Jun 5.
• Malhotra A, Cromer K, Leppert MF, Hasstedt SJ. The power to detect genetic linkage for quantitative traits in the Utah CEPH pedigrees. J Hum Genet. 2005;50(2):69-75. doi: 10.1007/s10038-004-0222-8. Epub 2005 Jan 29.

Study record dates

Study Major Dates

• Study Start: April 1, 2001
• Primary Completion: December 7, 2022
• Study Completion: March 1, 2004

Study Registration Dates

• First Submitted: May 20, 2002
• First Submitted That Met QC Criteria: May 20, 2002
• First Posted (Estimate): May 21, 2002

Study Record Updates

• Last Update Posted (Estimate): January 21, 2016
• Last Update Submitted That Met QC Criteria: January 19, 2016
• Last Verified: January 1, 2016

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Respiratory Tract Diseases; Lung Diseases; Lung Diseases, Obstructive; Pulmonary Disease, Chronic Obstructive
• Other Study ID Numbers: 1175; R01HL067469 (U.S. NIH Grant/Contract)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No