An allergic disease of the esophagus whose top genetic locus, CAPN14, was shown in the lab to be switched on by the same allergic signal (IL-13) thought to drive the disease itself.
Eosinophilic esophagitis (EoE) is a chronic allergic disorder in which the esophagus becomes infiltrated with eosinophils, a type of white blood cell involved in allergic responses. This page holds 3 variants from two independent 2014 genome-wide studies.
A 2014 study genotyped over 1.5 million variants in EoE cases of European ancestry, replicated in a separate multi-site cohort, and found rs149864795 at a locus spanning CAPN14. The study did not stop at statistics: CAPN14 is specifically expressed in the esophagus (unlike most genes, which are expressed broadly), its activity rose both with disease severity and with genetic haplotype, and — tested directly in the lab — esophageal epithelial cells increased CAPN14 expression when exposed to interleukin-13 (IL-13), a key signaling molecule in allergic disease. The gene also sits in a region of the genome IL-13 modifies epigenetically. The proposed mechanism: an interplay between general allergic sensitization and an EoE-specific, IL-13-driven esophageal response centered on CAPN14 — a specific, testable explanation for why this particular allergic disease targets the esophagus.
A separate 2014 study, having previously identified the TSLP/WDR36 locus, reported four more: two shared with other atopic and autoimmune diseases generally (c11orf30, STAT6), and two EoE-specific loci — ANKRD27, a gene involved in trafficking pigment-producing enzymes in skin cells, and CAPN14 again, independently replicating the first study's finding. This page's rs8041227 and rs3815700 (both near or within ANKRD27) come from this second study.
2026-09-01 · Journal of Allergy and Clinical Immunology: Global 2026, PMID:42405353
Verified directly against the paper's own abstract via Europe PMC (PMID:42405353, JACI: Global, September 2026). Rodriguez-Alcolado et al. genotyped 38 genetic markers in 628 Spanish EoE patients and found specific variants that predicted disease phenotype and eosinophil levels, plus associations between certain variants and higher asthma/conjunctivitis risk or lower dermatitis risk. Two specific CAPN14 genotypes (rs74732520-CG/GG and rs77569859-TC/CC) were associated with lower peak eosinophil counts at diagnosis -- different specific SNPs within the same CAPN14 gene as this page's own rs149864795, but a finding that CAPN14 variation shapes disease severity, not just disease risk. A large, real cohort, honestly a single-population (Spanish) study rather than multi-ancestry.
EoE is diagnosed by upper endoscopy with esophageal biopsy showing eosinophil infiltration — not by genotype. None of the 3 variants on this page are used by any guideline to diagnose EoE or select treatment.
The CAPN14 finding is unusually well-supported for a genetic association: the same gene shows tissue-specific expression, disease-activity correlation, and a direct laboratory response to the allergic signal (IL-13) thought to drive the disease. Even so, this remains population-level evidence about disease mechanism, not a diagnostic test — EoE is diagnosed by direct examination of the esophagus.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Eosinophilic Esophagitis comes down to these specific, well-studied positions — not a diagnosis.
The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 3 of 3 linked studies with a resolved discovery ancestry.
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Eosinophilic Esophagitis. MyGeneLog™. https://www.mygenelog.com/conditions/eosinophilic-esophagitis
A chronic allergic disorder in which the esophagus becomes infiltrated with eosinophils, a type of white blood cell involved in allergic responses.
A locus spanning CAPN14, a gene specifically expressed in the esophagus and shown in the lab to be switched on by IL-13, a key allergic signaling molecule -- found independently in two separate 2014 studies.
Partly. Two of this page's loci (STAT6, c11orf30) are shared with atopic and autoimmune disease broadly, but CAPN14 and ANKRD27 show EoE-specific evidence, suggesting the disease has its own distinct genetic component on top of general allergic tendency.
No. EoE is diagnosed by upper endoscopy with biopsy. These are population-level genetic findings, not a way to predict an individual case.
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