Pulmonary Disease, Chronic Obstructive Clinical Trial
Official title:
Genetic Epidemiology of COPD in Costa Rica
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.
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.
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Observational Model: Family-Based, Time Perspective: Cross-Sectional
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