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Severe childhood asthma gene identified

25 November 2013
Appeared in BioNews 732

A gene variant has been discovered and linked to an increased risk of severe childhood asthma. Researchers suggest that a faulty version of the gene CDHR3 may even be the direct cause of the disease in some children.

Dr Hakon Hakonarson from The Children's Hospital of Philadelphia, who helped lead the research, said: 'Twice as many people with severe asthma had the gene variant as healthy individuals'.

CDHR3 is active in the epithelial cells that line the inner surface of the airways.

'Abnormalities in the epithelial cells may increase a patient's risk to environmental triggers by exaggerating immune responses and making the airway overreact', explained Dr Hakonarson. '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'.

Using information from the Danish national health registries, researchers identified 1,173 cases of severe recurrent asthma in children aged two to six. Then, thanks to the Danish Neonatal Screening Biobank they were able to compare the children's genomes against 2,522 healthy controls.

The study, published in Nature Genetics, also confirms the association of four other genes that had previously been linked to asthma. The team replicated its findings using the DNA and medical data from a separate sample of children of European and non-European ancestry.

The researchers say they will continue to investigate how the CDHR3 gene variant might increase susceptibility to asthma. Ultimately, they hope to develop treatments for asthma that target the CDHR3 gene variant or the biological pathway it feeds into.

'There will be a subset of people with asthma, between 15 and 20 percent, where this gene has the biggest impact on their condition', said Dr Hakonarson.

A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations
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