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Nature Research, Nature Genetics, 4(42), p. 295-302, 2010

DOI: 10.1038/ng.543

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Multiple common variants for celiac disease influencing immune gene expression

Journal article published in 2010 by Dubois Pc, Patrick Ca A. Dubois, Gosia Trynka, Bardella Mt, Bockett Na, Lude Franke ORCID, Karen A. Hunt, Jihane Romanos, Fehrmann Rs, Alessandra Curtotti, Alexandra Zhernakova, Graham Ar R. Heap, Róza Ádány, A. Zhemakova, Green Pm and other authors.
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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.