A rogue gene has been discovered that could be a direct cause of severe asthma in young children.
The gene, CDHR3, is especially active in epithelial cells lining the inner surfaces of the airways.
Scientists suspect mutant versions of CDHR3 may cause abnormalities in the airway cell lining leading to an allergic response to environmental triggers.
The novel gene was one of four identified as being associated with asthma, three of which were already known.
Scientists made the discovery by comparing the genomes - the complete genetic codes - of 3,695 Danish children and adults. The group included a number of children aged two to six with asthma.
The findings were then replicated using data from other children of both European and non-European ancestry.
Lead researcher Dr Hakon Hakonarson, from the Children’s Hospital of Philadelphia (Chop) in the US, said: “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.
“Identifying a risk-susceptibility gene linked to this phenotype may lead to more effective, targeted treatments for this type of childhood asthma.”
The findings, published in the journal Nature Genetics, are consistent with previous research by Chop’s Centre for Applied Genomics suggesting that other genes linked to childhood asthma play a role in over-sensitive immune reactions.
Dr Hakonarson said: “Asthma researchers have been increasingly interested in the role of the airway epithelium in the development of asthma.
“Abnormalities in the epithelial cells may increase a patient’s risk to environmental triggers by exaggerating immune responses and making the airway overreact. Because the CDHR3 gene is related to a family of proteins involved in cell adhesion and cell-to-cell interaction, it is plausible that variations in this gene may disrupt normal functioning in these airway cells, and make a child vulnerable to asthma.”
Further studies are needed to improve understanding of how the CDHR3 gene functions in asthma and develop new treatments for children most severely affected by the disease, he added.
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