DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Eosinophilic esophagitis (pediatric). The EFO term eosinophilic esophagitis was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: eosinophilic esophagitis

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

ME Rothenberg, JM Spergel, JD Sherrill, K Annaiah, LJ Martin, A Cianferoni, L Gober, C Kim, J Glessner, E Frackelton, K Thomas, C Blanchard, C Liacouras, R Verma, S Aceves, MH Collins, T Brown-Whitehorn, PE Putnam, JP Franciosi, RM Chiavacci, SF Grant, JP Abonia, PM Sleiman, H Hakonarson

TITLE:

Common variants at 5q22 associate with pediatric eosinophilic esophagitis.

JOURNAL:

Nature genetics Apr 2010, Vol 42, pp. 289-91

ABSTRACT:

Eosinophilic esophagitis (EoE) is an allergic disorder characterized by the accumulation of eosinophils in the esophagus. We report association of EoE with variants at chromosome 5q22 encompassing TSLP and WDR36 (rs3806932, combined P = 3.19 x 10(-9)). TSLP is overexpressed in esophageal biopsies from individuals with EoE compared with unaffected individuals, whereas WDR36 expression is unaltered between the two groups. These data implicate the 5q22 locus in the pathogenesis of EoE and identify TSLP as the most likely candidate gene in the region. PUBMED: 20208534
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