Innate Immunity in Heart, Lung and Blood Disease
Programs for Genomic Applications
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Chronic Obstructive Pulmonary Disease (COPD), Genome-wide Linkage Analysis
The following data reports the linkage-analysis results of an autosomal genomewide scan, using quantitative spirometric phenotypes in extended pedigrees of individuals with severe early-onset COPD. Additionally, the raw data is also reported for the results of the first whole genome scan for COPD using autosomal markers at 9 cM intervals with qualitative phenotypes including airflow obstruction and chronic bronchitis. Based on the linkage results from the genome scan, additional short tandem repeat (STR) markers have been analyzed on chromosome 12p.
Chronic obstructive pulmonary disease (COPD) is a common, complex disease associated with substantial morbidity and mortality (Hoyert et al. 1999). COPD includes chronic bronchitis, peripheral airways disease and emphysema, and is the fourth leading cause of death in the United States (Hoyert,D.L.,et. al 1999 and Davis,R.M. and Novotny,T.E. 1989). However, the development of chronic airflow obstruction—the defining characteristic of COPD—is quite variable among smokers (Silverman and Speizer 1996).
Severe alpha 1-antitrypsin (AAT) deficiency is a proven but uncommon genetic determinant of COPD (Larsson 1978; Tobin et al. 1983; Janus et al. 1985). Several types of studies have suggested that genetic factors other than AAT deficiency may be involved in the susceptibility to develop COPD (Lomas and Silverman 2001). To identify genomic regions linked to COPD-related phenotypes, we have enrolled pedigrees ascertained through single probands who had severe early-onset COPD but who did not have severe AAT deficiency.