Genetic Factors That Influence Chronic Obstructive Pulmonary Disease in Hispanics

Pulmonary Disease, Chronic Obstructive Clinical Trial

Official title:

Genetic Epidemiology of COPD in Costa Rica

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00106470
• Other study ID #: 1289
• Secondary ID: R01HL073373
• Status: Completed
• Phase: N/A
• First received: March 24, 2005
• Last updated: December 12, 2012
• Start date: February 2005
• Est. completion date: January 2010

Study information

• Verified date: December 2012
• Source: University of Pittsburgh
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Federal Government
• Study type: Observational

Clinical Trial Summary

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.

Description:

DESIGN NARRATIVE:

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 679
• Est. completion date: January 2010
• Est. primary completion date: January 2010
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 21 Years to 65 Years

Eligibility

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

Study Design

Observational Model: Family-Based, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Chronic Disease
• Lung Diseases
• Lung Diseases, Obstructive
• Pulmonary Disease, Chronic Obstructive

Locations

Country	Name	City	State
Costa Rica	Hospital Nacional de Niños	San José

Sponsors (2)

Lead Sponsor	Collaborator
University of Pittsburgh	National Heart, Lung, and Blood Institute (NHLBI)

Country where clinical trial is conducted

Costa Rica, 

References & Publications (3)

Brehm JM, Celedón JC. Chronic obstructive pulmonary disease in Hispanics. Am J Respir Crit Care Med. 2008 Mar 1;177(5):473-8. Epub 2007 Nov 20. Review. — View Citation

Brehm JM, Hagiwara K, Tesfaigzi Y, Bruse S, Mariani TJ, Bhattacharya S, Boutaoui N, Ziniti JP, Soto-Quiros ME, Avila L, Cho MH, Himes B, Litonjua AA, Jacobson F, Bakke P, Gulsvik A, Anderson WH, Lomas DA, Forno E, Datta S, Silverman EK, Celedón JC. Identi — View Citation

Hunninghake GM, Weiss ST, Celedón JC. Asthma in Hispanics. Am J Respir Crit Care Med. 2006 Jan 15;173(2):143-63. Epub 2005 Oct 6. Review. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Genetic factors that influence the development of COPD in Hispanics.		Measured through the use of genetic samples	No