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:

KA Hunt, A Zhernakova, G Turner, GA Heap, L Franke, M Bruinenberg, J Romanos, LC Dinesen, AW Ryan, D Panesar, R Gwilliam, F Takeuchi, WM McLaren, GK Holmes, PD Howdle, JR Walters, DS Sanders, RJ Playford, G Trynka, CJ Mulder, ML Mearin, WH Verbeek, V Trimble, FM Stevens, C O'Morain, NP Kennedy, D Kelleher, DJ Pennington, DP Strachan, WL McArdle, CA Mein, MC Wapenaar, P Deloukas, R McGinnis, R McManus, C Wijmenga, DA van Heel

TITLE:

Newly identified genetic risk variants for celiac disease related to the immune response.

JOURNAL:

Nature genetics Apr 2008, Vol 40, pp. 395-402

ABSTRACT:

Our genome-wide association study of celiac disease previously identified risk variants in the IL2-IL21 region. To identify additional risk variants, we genotyped 1,020 of the most strongly associated non-HLA markers in an additional 1,643 cases and 3,406 controls. Through joint analysis including the genome-wide association study data (767 cases, 1,422 controls), we identified seven previously unknown risk regions (P < 5 x 10(-7)). Six regions harbor genes controlling immune responses, including CCR3, IL12A, IL18RAP, RGS1, SH2B3 (nsSNP rs3184504) and TAGAP. Whole-blood IL18RAP mRNA expression correlated with IL18RAP genotype. Type 1 diabetes and celiac disease share HLA-DQ, IL2-IL21, CCR3 and SH2B3 risk regions. Thus, this extensive genome-wide association follow-up study has identified additional celiac disease risk variants in relevant biological pathways. PUBMED: 18311140
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