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
- Type: Other
- Archiver: European Genome-Phenome Archive (EGA)
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 |
8 |
|
Exploring effective approaches for haplotype block phasing.
BMC Bioinformatics 20: 2019 540 |
12 |
|
Improved HLA-based prediction of coeliac disease identifies two novel genetic interactions.
Eur J Hum Genet 28: 2020 1743-1752 |
5 |
|
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 |
80 |
|
Clustering suicidal phenotypes and genetic associations with brain-derived neurotrophic factor in patients with substance use disorders.
Transl Psychiatry 11: 2021 72 |
5 |
|
The genetic history of Greenlandic-European contact.
Curr Biol 31: 2021 2214-2219.e4 |
8 |