DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Celiac disease. The EFO term celiac disease was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: celiac disease

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

PC Dubois, G Trynka, L Franke, KA Hunt, J Romanos, A Curtotti, A Zhernakova, GA Heap, R Adány, A Aromaa, MT Bardella, LH van den Berg, NA Bockett, EG de la Concha, B Dema, RS Fehrmann, M Fernández-Arquero, S Fiatal, E Grandone, PM Green, HJ Groen, R Gwilliam, RH Houwen, SE Hunt, K Kaukinen, D Kelleher, I Korponay-Szabo, K Kurppa, P MacMathuna, M Mäki, MC Mazzilli, OT McCann, ML Mearin, CA Mein, MM Mirza, V Mistry, B Mora, KI Morley, CJ Mulder, JA Murray, C Núñez, E Oosterom, RA Ophoff, I Polanco, L Peltonen, M Platteel, A Rybak, V Salomaa, JJ Schweizer, MP Sperandeo, GJ Tack, G Turner, JH Veldink, WH Verbeek, RK Weersma, VM Wolters, E Urcelay, B Cukrowska, L Greco, SL Neuhausen, R McManus, D Barisani, P Deloukas, JC Barrett, P Saavalainen, C Wijmenga, DA van Heel

TITLE:

Multiple common variants for celiac disease influencing immune gene expression.

JOURNAL:

Nature genetics Apr 2010, Vol 42, pp. 295-302

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. PUBMED: 20190752
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