Techniques: Chromosome 11 open reading frame 30 (C11orf30),calpain small subunit 1 (CAPNS1; CAPN14), signal transducer and activator oftranscription 6 (STAT6)

TECHNOLOGY: Markers

Genomewide association studies identified four genes that could serve as diagnostic markers and/or therapeutic targets for EoE. In a discovery cohort of 603 EoE patients and 3,637 controls, variants at C11orf30, CAPNS1, STAT6 and ANKRD27 were associated with the disease. Transcriptome sequencing in esophageal biopsies from 9 EoE patients and 3 healthy controls found that expression levels for all four genes differed between the two groups. Next steps could include validating the markers in a larger cohort of EoE patients. ...