Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation
Background Numerous studies have demonstrated associations between genetic markers
and COPD, but results have been inconsistent. One reason may be heterogeneity in disease …
and COPD, but results have been inconsistent. One reason may be heterogeneity in disease …
National Emphysema Treatment Trial state of the art: genetics of emphysema
Although a hereditary contribution to emphysema has been long suspected, severe α1-
antitrypsin deficiency remains the only conclusively proven genetic risk factor for chronic …
antitrypsin deficiency remains the only conclusively proven genetic risk factor for chronic …
Genetic association analysis of functional impairment in chronic obstructive pulmonary disease
Rationale: Patients with severe chronic obstructive pulmonary disease (COPD) may have
varying levels of disability despite similar levels of lung function. This variation may reflect …
varying levels of disability despite similar levels of lung function. This variation may reflect …
Genome-wide association study of the genetic determinants of emphysema distribution
Rationale: Emphysema has considerable variability in the severity and distribution of
parenchymal destruction throughout the lungs. Upper lobe–predominant emphysema has …
parenchymal destruction throughout the lungs. Upper lobe–predominant emphysema has …
[HTML][HTML] Genetic association analysis of COPD candidate genes with bronchodilator responsiveness
Airflow limitation in COPD patients is not fully reversible. However, there may be large
variability in bronchodilator responsiveness (BDR) among COPD patients, and familial …
variability in bronchodilator responsiveness (BDR) among COPD patients, and familial …
Association of COPD candidate genes with computed tomography emphysema and airway phenotypes in severe COPD
The principal determining factors influencing the development of the airway disease and
emphysema components of chronic obstructive pulmonary disease (COPD) have not been …
emphysema components of chronic obstructive pulmonary disease (COPD) have not been …
Cluster analysis in the COPDGene study identifies subtypes of smokers with distinct patterns of airway disease and emphysema
Background There is notable heterogeneity in the clinical presentation of patients with
COPD. To characterise this heterogeneity, we sought to identify subgroups of smokers by …
COPD. To characterise this heterogeneity, we sought to identify subgroups of smokers by …
Genome-wide Association Study Identifies BICD1 as a Susceptibility Gene for Emphysema
Rationale: Chronic obstructive pulmonary disease (COPD), characterized by airflow
limitation, is a disorder with high phenotypic and genetic heterogeneity. Pulmonary …
limitation, is a disorder with high phenotypic and genetic heterogeneity. Pulmonary …
Genetics of COPD and emphysema
ES Wan, EK Silverman - Chest, 2009 - Elsevier
COPD is a highly prevalent disorder that results from the interplay of genetic susceptibility
and environmental exposures. Over the past 2 decades, significant technological advances …
and environmental exposures. Over the past 2 decades, significant technological advances …
Genome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patterns
PJ Castaldi, MH Cho, R San José Estépar… - American journal of …, 2014 - atsjournals.org
Rationale: Emphysema is a heritable trait that occurs in smokers with and without chronic
obstructive pulmonary disease. Emphysema occurs in distinct pathologic patterns, but the …
obstructive pulmonary disease. Emphysema occurs in distinct pathologic patterns, but the …