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Multiple common variants for celiac disease influencing immune gene expression

Patrick Dubois, +70 more
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TLDR
Variants from 13 new regions reached genome-wide significance and most contain genes with immune functions, with ETS1, RUNX3, THEMIS and TNFRSF14 having key roles in thymic T-cell selection.
Abstract: 
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.

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Five years of GWAS discovery

Peter M. Visscher, +5 more
- 13 Jan 2012 - 
TL;DR: The past five years have seen many scientific and biological discoveries made through the experimental design of genome-wide association studies (GWASs), which were aimed at detecting variants at genomic loci that are associated with complex traits in the population and, in particular, at detecting associations between common single-nucleotide polymorphisms (SNPs) and common diseases such as heart disease, diabetes, auto-immune diseases, and psychiatric disorders.
Journal ArticleDOI

Bayesian test for colocalisation between pairs of genetic association studies using summary statistics.

Claudia Giambartolomei, +6 more
- 15 May 2014 - 
TL;DR: A novel statistical methodology to assess whether two association signals are consistent with a shared causal variant and the ability to derive the output statistics from single SNP summary statistics, making it possible to perform systematic meta-analysis type comparisons across multiple GWAS datasets is developed.
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Systematic identification of trans eQTLs as putative drivers of known disease associations

Harm-Jan Westra, +60 more
- 01 Oct 2013 - 
TL;DR: Variants associated with cholesterol metabolism and type 1 diabetes showed similar phenomena, indicating that large-scale eQTL mapping provides insight into the downstream effects of many trait-associated variants.
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Genomewide Association Study of Severe Covid-19 with Respiratory Failure.

David Ellinghaus, +145 more
- 17 Jun 2020 - 
TL;DR: A 3p21.31 gene cluster is identified as a genetic susceptibility locus in patients with Covid-19 with respiratory failure and a potential involvement of the ABO blood-group system is confirmed.
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Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.

Carl A. Anderson, +113 more
- 01 Mar 2011 - 
TL;DR: A meta-analysis of six ulcerative colitis genome-wide association study datasets found many candidate genes that provide potentially important insights into disease pathogenesis, including IL1R2, IL8RA-IL8RB, IL7R, IL12B, DAP, PRDM1, JAK2, IRF5, GNA12 and LSP1.
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