Study finds that genetic risk for asthma comes from changes in airway cells

A significant amount of genetic risk for asthma is likely mediated through altered gene expression within the airway epithelium. That is the conclusion of a National Jewish Health-led study to identify genetic variants that cause asthma by altering the function of airway cells. The team's paper published March 28, 2022, in the journal Nature Communications.

"This work will help us identify targetable pathways to intervene for asthma, to stop mucus hypersecretion or type 2 airway inflammation, an allergic response that can exacerbate asthma," said Max A. Seibold, Ph.D., professor of Pediatrics in the National Jewish Health Center for Genes, Environment and Health and senior author of the paper. "One of the banes of human existence is mucus, which plays a role in so many health conditions, everything from the common cold, to COVID, to chronic lung diseases like asthma and COPD. The more we know about what causes it, the better equipped we will be to develop impactful treatments."

For the study, the team performed the first airway transcriptome-wide association study (TWAS) for childhood and adult onset asthma. The first step in a TWAS study is to build models that will allow prediction of how a person's genes will function in a particular tissue, based solely on their genetic profile. Dr. Seibold and colleagues leveraged nasal airway samples and genetic data from a cohort of 700 children in Puerto Rico, who either were in good health or had asthma, to build these models for airway tissue.

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