Genetic Factors That Influence Chronic Obstructive Pulmonary Disease in Hispanics
NCT ID: NCT00106470
Last Updated: 2012-12-17
Study Results
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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COMPLETED
679 participants
OBSERVATIONAL
2005-02-28
2010-01-31
Brief Summary
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Detailed Description
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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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Keywords
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Study Design
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FAMILY_BASED
CROSS_SECTIONAL
Eligibility Criteria
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Inclusion Criteria
* 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
* Severe alpha 1-antitrypsin deficiency
21 Years
65 Years
ALL
No
Sponsors
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National Heart, Lung, and Blood Institute (NHLBI)
NIH
University of Pittsburgh
OTHER
Responsible Party
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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
Countries
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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.
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.
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.
Other Identifiers
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1289
Identifier Type: -
Identifier Source: org_study_id