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Genetics of COPD

Authors
  • Silverman, Edwin K.
Type
Published Article
Journal
Annual Review of Physiology
Publisher
Annual Reviews
Publication Date
Feb 10, 2020
Volume
82
Pages
413–431
Identifiers
DOI: 10.1146/annurev-physiol-021317-121224
Source
Annual Reviews
Keywords
License
Yellow

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.

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