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Genetic Factors That Influence Chronic Obstructive Pulmonary Disease in Hispanics

This study has been completed.
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
University of Pittsburgh Identifier:
First received: March 24, 2005
Last updated: December 12, 2012
Last verified: December 2012
The purpose of this study is to examine genetic factors that influence the development of chronic obstructive pulmonary disease (COPD) in Hispanics, a minority group at high risk for the disease.

Pulmonary Disease, Chronic Obstructive
Lung Diseases, Obstructive

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Genetic Epidemiology of COPD in Costa Rica

Resource links provided by NLM:

Further study details as provided by University of Pittsburgh:

Primary Outcome Measures:
  • Genetic factors that influence the development of COPD in Hispanics. [ Time Frame: Measured through the use of genetic samples ]

Biospecimen Retention:   Samples With DNA

Enrollment: 679
Study Start Date: February 2005
Study Completion Date: January 2010
Primary Completion Date: January 2010 (Final data collection date for primary outcome measure)
Detailed Description:


This study will concentrate on a genetically isolated Hispanic population with a high prevalence of COPD living in the Central Valley of Costa Rica. Nine hundred individuals from descendants of the Costa Rican Central Valley founder population will be enrolled. To identify regions of the genome that are likely to contain genetic determinants of COPD-related phenotypes in this population, the study will collect phenotypic and genotypic data on 30 large families with a history of moderate to severe COPD that have multiple individuals affected with smoking-related airflow obstruction. A genome scan will be conducted on these individuals using short-tandem repeat (STR) markers. Linkage analysis will be performed on 6 COPD-related phenotypes, which will include the following: 1) chronic bronchitis; 2) airflow obstruction; 3) forced expiratory volume in one second (FEV1); 4) FEV1/FVC[forced vital capacity];5) bronchodilator responsiveness; and 6) total serum immunoglobulin E. Within genomic regions demonstrating linkage to COPD-related phenotypes in the genome scan, narrowly spaced STR markers will be genotyped and tested for linkage between these markers and COPD-related phenotypes. Within selected genomic regions, the association will be tested between single nucleotide polymorphisms (SNPs) in candidate genes and COPD-related phenotypes. By enrolling a large number of participants of a genetically isolated population and utilizing a family-based study design, this study should be able to address an important yet unstudied issue: the genetic influences on the expression of the COPD phenotype in Hispanics.


Ages Eligible for Study:   21 Years to 65 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Families of individuals with physician-diagnosed COPD and smoking-related airflow obstruction who are younger than 71 years.

Inclusion Criteria:

  • COPD
  • Reduced FEV1 after administration of bronchodilator (less than or equal to 60% of predicted value)
  • At least six great-grandparents born in the Central Valley of Costa Rica
  • At least one sibling with a history of smoking (10 or more packs per year)

Exclusion Criteria:

  • Chronic respiratory disorder other than COPD (as determined by a questionnaire and high-resolution CT chest scan)
  • Severe alpha 1-antitrypsin deficiency
  Contacts and Locations
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Please refer to this study by its identifier: NCT00106470

Costa Rica
Hospital Nacional de Niños
San José, Costa Rica
Sponsors and Collaborators
University of Pittsburgh
National Heart, Lung, and Blood Institute (NHLBI)
Study Chair: Juan C. Celedon, MD, DrPH University of Pittsburgh
  More Information

Responsible Party: University of Pittsburgh Identifier: NCT00106470     History of Changes
Other Study ID Numbers: 1289
R01HL073373 ( US NIH Grant/Contract Award Number )
Study First Received: March 24, 2005
Last Updated: December 12, 2012

Keywords provided by University of Pittsburgh:
Chronic Obstructive Pulmonary Disease

Additional relevant MeSH terms:
Lung Diseases
Lung Diseases, Obstructive
Pulmonary Disease, Chronic Obstructive
Chronic Disease
Respiratory Tract Diseases
Disease Attributes
Pathologic Processes processed this record on April 25, 2017