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Gene linked to allergic inflammatory diseases
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Researchers have identified the first major gene location responsible for eosinophilic esophagitis (EoE).
After performing a genome-wide association study, researchers from the Cincinnati Children’s Hospital Medical Center and The Children’s Hospital of Philadelphia (CHOP) found EoE was linked to a region of chromosome 5 that includes two genes. The likely culprit is the gene TSLP, which has higher activity levels in children with EoE compared to healthy people.
The researchers performed a genome-wide analysis on 181 samples from the Cincinnati center, and compared them with nearly 2,000 healthy controls from CHOP.
The gene studies pointed to chromosome 5q22.1, which contains the TSLP gene, as the likely culprit responsible for EOE. TSLP holds the genetic code to produce a cytokine, a specific signaling protein that regulates inflammatory responses occurring in allergic diseases.
TSLP has been previously linked to other allergic inflammatory diseases, such as asthma and atopic dermatitis.
Because children with EoE are often allergic to many foods, they may be limited to a diet containing no large food proteins, to allow time for their symptoms to resolve. Physicians must perform tests to determine which foods a child cannot eat. Researchers noted in the study that they hope their findings will contribute to finding more effective treatment options for children with this condition.
The National Institutes of Health provided funding, along with the Food Allergy Project, the Campaign Urging Research for Eosinophilic Disorders Foundation, the American Partnership for Eosinophilic Disorders, The Children’s Hospital of Philadelphia Chair’s Institute, the Buckeye Foundation and the Cotswold Foundation.
Nat Genet. 2010; doi:10.1038/ng.547.