Breathing new life into the study of COPD with genes identified from genome-wide association studies.
Eur Respir Rev
; 33(172)2024 Apr 30.
Article
in En
| MEDLINE
| ID: mdl-38811034
ABSTRACT
COPD is a major cause of morbidity and mortality globally. While the significance of environmental exposures in disease pathogenesis is well established, the functional contribution of genetic factors has only in recent years drawn attention. Notably, many genes associated with COPD risk are also linked with lung function. Because reduced lung function precedes COPD onset, this association is consistent with the possibility that derangements leading to COPD could arise during lung development. In this review, we summarise the role of leading genes (HHIP, FAM13A, DSP, AGER and TGFB2) identified by genome-wide association studies in lung development and COPD. Because many COPD genome-wide association study genes are enriched in lung epithelial cells, we focus on the role of these genes in the lung epithelium in development, homeostasis and injury.
Full text:
1
Database:
MEDLINE
Main subject:
Phenotype
/
Genetic Predisposition to Disease
/
Pulmonary Disease, Chronic Obstructive
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Genome-Wide Association Study
/
Lung
Limits:
Animals
/
Humans
Language:
En
Journal:
Eur Respir Rev
Year:
2024
Type:
Article
Affiliation country:
Australia