NEW YORK (GenomeWeb) – Researchers at the Children's Hospital of Philadelphia and elsewhere have tracked down four new genes with apparent ties to eosinophilic esophagitis, a food allergy characterized by inflammation, esophageal swelling, a jump in representation by eosinophil immune cells, and feeding difficulties.
As they reported in Nature Communications this week, the investigators identified variants with apparent ties to eosinophilic esophagitis by starting with a genome-wide association study involving 603 individuals with the condition and 3,637 without.
In that discovery set, the team saw five suspicious sites in the genome that showed genome-wide significant associations with the disease. Follow-up testing on another 333 individuals with eosinophilic esophagitis and 675 unaffected control individuals verified associations for variants at one previously identified locus and in four genes: c11orf30, STAT6, ANKRD27, and CAPN14.
Two of the genes — c11orf30 and STAT6—have been implicated in other inflammatory conditions, including other types of allergies and autoimmune diseases, the study's authors noted. Variants in the remaining two genes appear to be somewhat more specific to eosinophilic esophagitis.
ANKRD27 and CAPN14 are believed to be involved in enzyme trafficking to epidermal melanocytes and esophageal processes, respectively, they noted, explaining that CAPN14 shows enhanced expression in the esophagus and is related to a protein that's been proposed as a treatment target for airway inflammation in animals.
Past studies by members of the same team had linked eosinophilic esophagitis to variants in and around the genes at the TSLP/WDR36 locus, an association confirmed in the current study.
"This research adds to the evidence that genetic factors play key roles in [eosinophilic esophagitis], and broadens our knowledge of biological networks that may offer attractive targets for therapy," the study's senior author Hakon Hakonarson, CHOP director, said in a statement.