Genetic Factors That Influence Chronic Obstructive Pulmonary Disease in Hispanics

NCT ID: NCT00106470

Last Updated: 2012-12-17

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

679 participants

Study Classification

OBSERVATIONAL

Study Start Date

2005-02-28

Study Completion Date

2010-01-31

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Pulmonary Disease, Chronic Obstructive Lung Diseases, Obstructive

Keywords

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Chronic Obstructive Pulmonary Disease

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

CROSS_SECTIONAL

Eligibility Criteria

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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
Minimum Eligible Age

21 Years

Maximum Eligible Age

65 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Heart, Lung, and Blood Institute (NHLBI)

NIH

Sponsor Role collaborator

University of Pittsburgh

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Juan C. Celedon, MD, DrPH

Role: STUDY_CHAIR

University of Pittsburgh

Locations

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Hospital Nacional de Niños

San José, , Costa Rica

Site Status

Countries

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Costa Rica

References

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Hunninghake GM, Weiss ST, Celedon JC. Asthma in Hispanics. Am J Respir Crit Care Med. 2006 Jan 15;173(2):143-63. doi: 10.1164/rccm.200508-1232SO. Epub 2005 Oct 6.

Reference Type BACKGROUND
PMID: 16210666 (View on PubMed)

Brehm JM, Celedon JC. Chronic obstructive pulmonary disease in Hispanics. Am J Respir Crit Care Med. 2008 Mar 1;177(5):473-8. doi: 10.1164/rccm.200708-1274PP. Epub 2007 Nov 20.

Reference Type BACKGROUND
PMID: 18029789 (View on PubMed)

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, Celedon JC. Identification of FGF7 as a novel susceptibility locus for chronic obstructive pulmonary disease. Thorax. 2011 Dec;66(12):1085-90. doi: 10.1136/thoraxjnl-2011-200017. Epub 2011 Sep 15.

Reference Type RESULT
PMID: 21921092 (View on PubMed)

Other Identifiers

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R01HL073373

Identifier Type: NIH

Identifier Source: secondary_id

View Link

1289

Identifier Type: -

Identifier Source: org_study_id