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International Team Discovers Childhood Asthma Gene

Published on November 21, 2013 in Cornerstone Blog · Last updated 4 months 2 weeks ago


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An international team of researchers, including several investigators from The Children’s Hospital of Philadelphia’s Center for Applied Genomics, recently discovered a gene associated with a high risk of severe childhood asthma. The specific gene variant may be an actual cause of this form of asthma, a leading cause of hospitalization in young children.

“Because asthma is a complex disease, with multiple interacting causes, we concentrated on a specific phenotype — severe, recurrent asthma occurring between ages two and six,” said CHOP’s Hakon Hakonarson, MD, PhD, director of the Center for Applied Genomics. “Identifying a risk susceptibility gene linked to this phenotype may lead to more effective, targeted treatments for this type of childhood asthma.”

The study, published in Nature Genetics, includes collaborators from centers in five countries. In addition to Dr. Hakonarson, Children’s Hospital’s Patrick Sleiman, PhD, and Michael March, PhD also contributed to the study.

The researchers performed a genome-wide association study on DNA from Danish national health registries and the Danish National Screening Biobank. They compared genomes from 1,173 children aged 2 to 6 years from the Copenhagen Prospective Study on Asthma in Childhood with genomes from 2,522 adult and pediatric control subjects without asthma.

In addition to finding further evidence for four genes previously implicated as asthma susceptibility genes, the researchers identified a novel gene, CDHR3, which is particularly active in epithelial cells lining the surfaces of airways. The study team then replicated their findings using data from other children of both European and non-European ancestry.

Dr. Hakonarson said that the current findings are consistent with previous investigations by the Center for Applied Genomics, suggesting that other genes linked to childhood asthma play a role in oversensitive immune reactions. Further studies are needed to better understand how the CDHR3 gene may function in asthma, with the eventual goal of using such knowledge to design better treatments for children with severe cases of this disease, Dr. Hakonarson added.

To read more, see the full press release.