Study

Genome wide association study of Coeliac Disease

Study ID Alternative Stable ID Type
EGAS00000000057 Genotype

Study Description

We performed a second-generation genome-wide association study of 4,533 individuals with celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with P(GWAS) < 10(-4) and 18 SNPs from 14 known loci in a further 4,918 cases and 5,684 controls. Variants from 13 new regions reached genome-wide significance (P(combined) < 5 x 10(-8)); most contain genes with immune functions (BACH2, CCR4, CD80, CIITA-SOCS1-CLEC16A, ICOSLG and ZMIZ1), with ETS1, RUNX3, THEMIS and TNFRSF14 having key roles in thymic T-cell selection. There was evidence to suggest associations for a further 13 regions. In an expression quantitative trait meta-analysis of 1,469 whole blood samples, 20 of 38 (52.6%) tested loci had celiac risk variants correlated (P < 0.0028, FDR 5%) with cis gene expression

Study Datasets 8 datasets.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00010000284
NBS control samples only (Hap300)
Illumina (Various) 2500
EGAD00010000286
All cases and controls (Hap550)
11950
EGAD00010000288
All cases and Finnish, Dutch, Italian control samples (Hap550)
6313
EGAD00010000290
NBS control samples only (Hap550)
2276
EGAD00010000292
All cases and Finnish, Dutch, Italian control samples (Hap300)
10339
EGAD00010000294
1958BC control samples only (Hap300)
2436
EGAD00010000296
1958BC control samples only (Hap550)
2224
EGAD00010000298
All cases and controls (Hap300)
13761

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