Genetics of COPD
Year: 2019
Type: review
Abstract: Although chronic obstructive pulmonary disease (COPD) risk is strongly influenced by cigarette smoking, genetic factors are also important determinants of COPD. In addition to Mendelian syndromes such as alpha-1 antitrypsin deficiency, many genomic regions that influence COPD susceptibility have been identified in genome-wide association studies. Similarly, multiple genomic regions associated with COPD-related phenotypes, such as quantitative emphysema measures, have been found. Identifying the functional variants and key genes within these association regions remains a major challenge. However, newly identified COPD susceptibility genes are already providing novel insights into COPD pathogenesis. Network-based approaches that leverage these genetic discoveries have the potential to assist in decoding the complex genetic architecture of COPD.
Source: Annual Review of Physiology
Author: Edwin K. Silverman
Institutions: Brigham and Women's Hospital, Harvard University
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: green
Awards: Identifying Genetic Determinants of Severe, Early-Onset COPD, Identifying functional variants in COPD GWAS loci, (2 of 2) Genetic Epidemiology of COPD, COPD Susceptibility, Heterogeneity, and Progression: Proteomics and Genetics, Distinct and Overlapping Pathways of Fibrosis and Emphysema in Cigarette Smokers
OpenAlex ID: W2591924740