Genome-wide study identifies new loci for chronic obstructive pulmonary disease

Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality worldwide. Genetic factors play an important role in COPD susceptibility. Researchers recently performed a genome-wide association study in 35,735 cases and 222,076 controls from the UK Biobank and additional studies from the International COPD Genetics Consortium. They identified 82 genome-wide-significant loci for COPD, including 35 loci not previously described. The results identify specific genes, cell types, and biological pathways of interest and also suggest a genetic basis for the clinical heterogeneity seen in COPD. According to the authors, these insights provide multiple new avenues for investigation of the underlying biology and potential therapeutics in this deadly disease. The study, which was partly funded by the NHLBI, was published in the journal Nature Genetics.