Genetics of COPD

EK Silverman - Annual review of physiology, 2020 - annualreviews.org
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 …