A Novel Genetic Marker for Asthma
(CHMC Ref. Id: 1998-0722)
Overview:
Asthma is a chronic inflammatory disorder that leads to increased airway responsiveness to a variety of stimuli and recurrent airway obstruction. Approximately 5% of adults and 7-10% of children in the U.S. have asthma. Asthma is the fourth leading cause of morbidity and the number one cause of childhood hospitalizations in the U.S. Because asthma can become progressively more severe over time, it is important to determine individuals that are susceptible to the disease at a young age. In addition, in individuals that have been diagnosed with asthma, it is clinically important to predict the severity of their disease over time.
Researchers at CCHMC have discovered that allelic variations in the IL-4 receptor gene leads to increased receptor signaling and are genetic predictors of asthma. Moreover, these increased receptor-signaling mutations are also predictive of the severity of asthma in individuals having asthma. The researchers have determined that a novel IL-4 receptor alpha chain (IL-4Ra) allele on Th2-helper cells, mast cells, and basophils, which has been linked to susceptibility of atopy in humans, also plays a role in the development of asthma. In addition, it has been determined that the presence of the R576 IL-4Ra allele impacts the severity of asthma in affected patients. A gene based assay for the R576 IL-4Ra allele would provide physicians with the knowledge necessary to provide patients with an individualized and highly specific treatment regime.
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Patent Information:
Cincinnati Children's Lead Inventor:
Gurjit Hershey, M.D., PhD