Genetic variants at chromosome 5q22 are associated with pediatric eosinophilic esophagitis (EoE) ― a type of allergic disorder often triggered by food allergies, according to a study published online this week in Nature Genetics.
EoE affects approximately 1 in 10,000 individuals and occurs predominantly in young males who have a history of eczema and asthma. The disorder is characterized by inflammation of the esophagus and the accumulation of eosinophils ― a type of immune system cell ― in the esophagus. In most cases, EoE can be treated by introduction of a simple diet that lacks any allergenic food proteins.
Hakon Hakonarson and colleagues performed genome-wide analysis of approximately 400 patients with EoE and find that genetic variants at chromosome 5q22 are associated with EoE. This chromosome interval contains the gene TSLP, whose expression is increased in the esophageal biopsies of EoE patients compared to unaffected individuals.