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Genome Study Finds Autoimmunity Plays a Role in COPD Development


Autoimmunity plays a role in the development of chronic obstructive pulmonary disease (COPD), according to a recent genome study.

Genome-wide association studies identified several genes that contribute to the development of COPD, but scientists still lack a complete understanding of the pathogenesis of this disease. In a study published in the American Journal of Respiratory Cell and Molecular Biology, researchers examined the link between genetic variants in COPD and clinical phenotypes to understand the biological mechanisms underlying COPD.

Autoimmunity plays a role in the development of chronic obstructive pulmonary disease (COPD), according to a recent genome study.

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The study was led by Georgia State University and Vanderbilt University Medical Center, which owns a DNA biobank that is linked to deidentified electronic health records, according to a press release from Georgia State University.

Using genetic data from the biobank, called BioVU, Vanderbilt researchers performed a phenome-wide association study (PheWAS) of 16 previously reported COPD-associated single nucleotide polymorphisms (SNPs) that were identified from a genome-wide association study. SNPs represent a difference in a single DNA building block, called a nucleotide, and are the most common type of genetic variation among people.

Data were available from 18,335 adults of European descent who had provided informed consent. The researchers identified 1805 COPD cases and they defined phenotypes by using International Classification of Diseases, Ninth Revision codes. The BioVU patients were primarily ever-smokers (67%), 54% female, and had a median age of 64 years.

“We found that a specific SNP, rs2074488, is positively associated with COPD and is linked to the HLA-C gene, which presents a protein to B or T immune cells to kill bacteria or viruses. This makes COPD similar to autoimmune disease,” said Xiangming Ji, PhD, assistant professor in the Byrdine F. Lewis College of Nursing and Health Professions at Georgia State. "This SNP is also associated with several autoimmune diseases, like type 1 diabetes and rheumatoid arthritis, which suggests a genetic link between autoimmune disease and COPD. Many years ago, people believed that one of the causes of COPD is because the autoimmune system attacks its own lungs. We kind of confirmed that by our big data."

This study could provide insight on opportunities for drug repurposing, Ji said. For instance, a drug that is effective for diabetes could possibly be used to treat COPD because both diseases involve autoimmune responses.

The findings suggest future research should explore the role of the immune system in the pathogenesis of COPD. The researchers also hope that scientists will investigate how normal SNPs are related to COPD.


Ji X, Niu X, Qian J, et al. A phenome-wide association study uncovers a role for autoimmunity in the development of chronic obstructive pulmonary disease. Am J Respir Cell Mol Biol. 2018;58(6):777-779. doi: 10.1165/rcmb.2017-0409LE.

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