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GWAS Study

Common variants at 5q22 associate with pediatric eosinophilic esophagitis.

Rothenberg ME, Spergel JM, Sherrill JD et al.

20208534 PubMed ID
GWAS Study Type
3455 Participants
42 Views
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

RM
Rothenberg ME
SJ
Spergel JM
SJ
Sherrill JD
AK
Annaiah K
ML
Martin LJ
CA
Cianferoni A
GL
Gober L
KC
Kim C
GJ
Glessner J
FE
Frackelton E
TK
Thomas K
BC
Blanchard C
LC
Liacouras C
VR
Verma R
AS
Aceves S
CM
Collins MH
BT
Brown-Whitehorn T
PP
Putnam PE
FJ
Franciosi JP
CR
Chiavacci RM
GS
Grant SF
AJ
Abonia JP
SP
Sleiman PM
HH
Hakonarson H
Chapter II

Abstract

Summary of the research findings

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.

181 European ancestry cases, 1,974 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

3455
Total Participants
GWAS
Study Type
Yes
Replicated
170 European ancestry cases, 1,130 European ancestry controls
Replication Participants
European
Ancestry
Chapter IV

AI-Generated Summary

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