Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation

MH Cho, GR Washko, TJ Hoffmann, GJ Criner… - Respiratory …, 2010 - Springer
Background Numerous studies have demonstrated associations between genetic markers
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

CP Hersh, DL DeMeo, EK Silverman - Proceedings of the American …, 2008 - atsjournals.org
Although a hereditary contribution to emphysema has been long suspected, severe α1-
antitrypsin deficiency remains the only conclusively proven genetic risk factor for chronic …

Genetic association analysis of functional impairment in chronic obstructive pulmonary disease

CP Hersh, DL DeMeo, R Lazarus… - American journal of …, 2006 - atsjournals.org
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 …

Genome-wide association study of the genetic determinants of emphysema distribution

A Boueiz, SM Lutz, MH Cho, CP Hersh… - American journal of …, 2017 - atsjournals.org
Rationale: Emphysema has considerable variability in the severity and distribution of
parenchymal destruction throughout the lungs. Upper lobe–predominant emphysema has …

[HTML][HTML] Genetic association analysis of COPD candidate genes with bronchodilator responsiveness

WJ Kim, CP Hersh, DL DeMeo, JJ Reilly… - Respiratory …, 2009 - Elsevier
Airflow limitation in COPD patients is not fully reversible. However, there may be large
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

WJ Kim, E Hoffman, J Reilly, C Hersh… - European …, 2011 - Eur Respiratory Soc
The principal determining factors influencing the development of the airway disease and
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

PJ Castaldi, J Dy, J Ross, Y Chang, GR Washko… - Thorax, 2014 - thorax.bmj.com
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 …

Genome-wide Association Study Identifies BICD1 as a Susceptibility Gene for Emphysema

X Kong, MH Cho, W Anderson, HO Coxson… - American journal of …, 2011 - atsjournals.org
Rationale: Chronic obstructive pulmonary disease (COPD), characterized by airflow
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 …

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 …