Genetic Basis of Chronic Obstructive Pulmonary Disease (COPD) Discovered

Chronic obstructive pulmonary disease (COPD) is the third main cause of death in the US, yet there are no effective drugs that lessen mortality from the disease. While smoking remains the single foremost risk factor for COPD, genetics additionally play a main function. In a new study released in Nature Genetics, investigators describe  13 new genetic areas associated with COPD, including four that have no longer been associated with any lung disease. The researchers additionally discovered an overlap of the genetic risk of COPD with two other lung diseases, asthma and pulmonary fibrosis. These findings create a greater understanding of the genetic basis for this lethal sickness.

According to lead author Brian Hobbs, MD, MMSc a physician-researcher in the Channing Division of Network Medicine and Pulmonary and Critical Care Division of BWH, they are serious about these findings on the grounds that they have not only uncovered new genetic causes for COPD, but also have proven the overlap of COPD genetic risks with bronchial asthma and pulmonary fibrosis. This is a step to realise the genetic basis for COPD, or find out a number of diseases that  could present as COPD. Now that we know there are new areas of the genomes associated with COPD, we can construct on this research by probing new biological pathways with the goal of improving treatment options for patients with this disease.

Researchers conducted a genome-wide association study of risks for chronic obstructive pulmonary disease (COPD) in a large, multi-ancestry cohort consisting of 15,256 cases and 47,936 controls. This study permits investigators to see across a complete set of genetic variants in different individuals to see if any variant is associated with disease.

Primary findings from this study were replicated in a second cohort. The authors additionally sought to discover more about their findings through examining overlap with other diseases and analyzing what was identified about gene function in these regions. In addition to opting for 13 new genetic areas related to COPD, they learned 4 genetic areas that weren’t previously associated with any lung function trait.

Nine of the genetic regions had been recognized as taking part in a major role in lung function. Two have earlier shown an association  with pulmonary fibrosis; nonetheless, the distinctive forms of those genetic variants that develop risk for COPD decrease risk for pulmonary fibrosis. All analyses accounted for the consequences of age, gender, and cigarette smoking on disorder risk.

According to the authors, while it’s highly predominant that patients should not smoke for a lot of health reasons — including the prevention of COPD — we know that smoking cessation might not be sufficient to stave off the disease. Many sufferers with COPD blame themselves, however they may be comforted to grasp that genetics does play a role in who eventually develops the disease.

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