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. Author manuscript; available in PMC: 2016 Oct 1.
Published in final edited form as: Curr Opin Allergy Clin Immunol. 2015 Oct;15(5):417–425. doi: 10.1097/ACI.0000000000000200

Table 2.

Eosinophilic esophagitis genetic risk description of single nucleotide polymorphysims found in eosinophilic esophagitis genome-wide association studies

Variant
(effect allele)		 chr: pos hg19 Gene Location Function Effect allele
frequency		 EoE OR P EoE GWAS SE EoE
GWAS
rs1438673 (T) chr5: 110467499 TSLP Intergenic TSLP eSNP/
  ENCODE
  transcription
  factor binding site		 0.496 0.626 2.74 × 10−12 0.063
rs55646091 (A) chr11: 76299431 c11orf30 Intergenic ENCODE
  transcription
  factor binding site		 0.044 2.219 5.38 × 0−10 0.157
rs74732520 (G) chr2: 31396392 CAPN14 3’ UTR Transcribed and
  high LD with three
  variants
  (rs77997242,
  rs113412973,
  rs78464756) in
  ENCODE
  transcription
  factor binding
  sites		 0.067 1.782 1.69 × 10−8 0.131

EoE, eosinophilic esophagitis; CAPN14, Calpain 14; ENCODE, encyclopedia of DNA elements; GWAS, genome-wide association studies; LD, linkage disequilibrium; SNP, single nucleotide polymorphysim; TSLP, thymic stromal lymphopoietin.