RGD Reference Report - GWAS identifies four novel eosinophilic esophagitis loci. - Rat Genome Database

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GWAS identifies four novel eosinophilic esophagitis loci.

Authors: Sleiman, PM  Wang, ML  Cianferoni, A  Aceves, S  Gonsalves, N  Nadeau, K  Bredenoord, AJ  Furuta, GT  Spergel, JM  Hakonarson, H 
Citation: Sleiman PM, etal., Nat Commun. 2014 Nov 19;5:5593. doi: 10.1038/ncomms6593.
RGD ID: 11100048
Pubmed: PMID:25407941   (View Abstract at PubMed)
PMCID: PMC4238044   (View Article at PubMed Central)
DOI: DOI:10.1038/ncomms6593   (Journal Full-text)

Eosinophilic esophagitis (EoE) is an allergic disorder characterized by infiltration of the oesophagus with eosinophils. We had previously reported association of the TSLP/WDR36 locus with EoE. Here we report genome-wide significant associations at four additional loci; c11orf30 and STAT6, which have been previously associated with both atopic and autoimmune diseases, and two EoE-specific loci, ANKRD27 that regulates the trafficking of melanogenic enzymes to epidermal melanocytes and CAPN14, that encodes a calpain whose expression is highly enriched in the oesophagus. The identification of five EoE loci, not only expands our aetiological understanding of the disease but may also represent new therapeutic targets to treat the most debilitating aspect of EoE, oesophageal inflammation and remodelling.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ANKRD27Humaneosinophilic esophagitis  IAGP DNA:SNPs:intron: (rs3815700 and rs10410895) (human)RGD 
Ankrd27Rateosinophilic esophagitis  ISOANKRD27 (Homo sapiens)DNA:SNPs:intron: (rs3815700 and rs10410895) (human)RGD 
Ankrd27Mouseeosinophilic esophagitis  ISOANKRD27 (Homo sapiens)DNA:SNPs:intron: (rs3815700 and rs10410895) (human)RGD 
CAPN14Humaneosinophilic esophagitis  IAGP DNA:snps:multiple (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ANKRD27HumanAbnormal eosinophil count  IAGP DNA:SNPs:intron: (rs3815700 and rs10410895)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Ankrd27  (ankyrin repeat domain 27)

Genes (Mus musculus)
Ankrd27  (ankyrin repeat domain 27)

Genes (Homo sapiens)
ANKRD27  (ankyrin repeat domain 27)
CAPN14  (calpain 14)


Additional Information