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Genome wide association study of Coeliac Disease

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

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 Illumina (Various) 2500
EGAD00010000286 11950
EGAD00010000288 6313
EGAD00010000290 2276
EGAD00010000292 10339
EGAD00010000294 2436
EGAD00010000296 2224
EGAD00010000298 13761
Publications Citations
Multiple common variants for celiac disease influencing immune gene expression.
Nat Genet 42: 2010 295-302
565
Interactions within the MHC contribute to the genetic architecture of celiac disease.
PLoS One 12: 2017 e0172826
7
Exploring effective approaches for haplotype block phasing.
BMC Bioinformatics 20: 2019 540
6
Improved HLA-based prediction of coeliac disease identifies two novel genetic interactions.
Eur J Hum Genet 28: 2020 1743-1752
3
Large-scale meta-analysis across East Asian and European populations updated genetic architecture and variant-driven biology of rheumatoid arthritis, identifying 11 novel susceptibility loci.
Ann Rheum Dis 80: 2021 558-565
30
Clustering suicidal phenotypes and genetic associations with brain-derived neurotrophic factor in patients with substance use disorders.
Transl Psychiatry 11: 2021 72
2
The genetic history of Greenlandic-European contact.
Curr Biol 31: 2021 2214-2219.e4
4