To examine genetic factors that influence the development of chronic obstructive pulmonary disease (COPD) in Hispanics.

DESIGN NARRATIVE: The study will examine the genetic factors that influence the development of chronic obstructive pulmonary disease (COPD) in Hispanics, a minority group at high risk for the disease. The study concentrates on a genetically isolated Hispanic population with a high prevalence of COPD living in the Central Valley of Costa Rica. To identify regions of the genome likely to contain genetic determinants of COPD-related phenotypes in this population, the study uses a design that entails collection of phenotypic and genotypic data on 30 large families of probands with moderate to severe COPD that have multiple individuals affected with smoking-related airflow obstruction, comprising 900 individuals from descendants of the Costa Rican Central Valley founder population. A genome scan will be conducted on these large pedigrees using short-tandem repeat (STR) markers and linkage analysis will be performed on six COPD-related phenotypes: chronic bronchitis; airflow obstruction; FEV1; FEV1/FVC; bronchodilator responsiveness; and total serum IgE. 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 utilizing a family-based study design with a large sample size in a genetically isolated population, the research should be able to address an important yet unstudied problem: the genetic influences on the expression of the COPD phenotype in Hispanics.

Ages Eligible for Study:  21 Years   -   60 Years,  Genders Eligible for Study:  Both

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