COPD

Study: Genetic Risk Factors Identified for COPD

A study and research letter published in Nature Genetics detailed newly-identified genetic risk factors associated with chronic obstructive pulmonary disease (COPD), including 4 genetic regions previously unassociated with lung function, as well as overlap between genetic risk of COPD and the risk of asthma and pulmonary fibrosis.

In their study, researchers performed a genome-wide association discovery in 48,943 individuals who were selected from the lung function distribution in the UK Biobank, and followed-up with 95,375 individuals.
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“A genetic risk score was associated with COPD susceptibility (odds ratio per 1 s.d. of the risk score (~6 alleles) (95% confidence interval) = 1.24 (1.20–1.27), P = 5.05 × 10−49), and we observed a 3.7-fold difference in COPD risk between individuals in the highest and lowest genetic risk score deciles in UK Biobank,” the researchers wrote.

In the research letter, researchers described a genetic association study that included 15,256 cases and 47,936 controls. They identified 22 loci associated with COPD, and 13 new genetic regions associated with COPD. Of the 13 new associations, 9 had previously been associated with lung function in the general population and 4 were not previously associated with lung function. In addition, 2 of the loci were shared with pulmonary fibrosis,

Researchers did not find overlap of loci within the genome-wide associations for asthma, but did identify a genetic correlation between COPD and asthma.

“Our findings highlight new loci associated with COPD, demonstrate the importance of specific loci associated with lung function to COPD, and identify potential regions of genetic overlap between COPD and other respiratory diseases,” the researchers concluded.

—Melissa Weiss

Reference:

  1. Hobbs BD, de Jong K, Lamontagne M, et al. Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis [published online February 6, 2017]. Nature Genetics. doi:10.1038/ng.3752.
  2. Wain LV, Shrine N, Artigas MS, et al. Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets [published online February 6, 2017]. Nature Genetics. doi:10.1038/ng.3787.