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 Crohn's disease. The EFO term Crohn's 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: Crohn's disease

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2020-05-06

SPECIES:

AUTHORS:

JV Raelson, RD Little, A Ruether, H Fournier, B Paquin, P Van Eerdewegh, WE Bradley, P Croteau, Q Nguyen-Huu, J Segal, S Debrus, R Allard, P Rosenstiel, A Franke, G Jacobs, S Nikolaus, JM Vidal, P Szego, N Laplante, HF Clark, RJ Paulussen, JW Hooper, TP Keith, A Belouchi, S Schreiber

TITLE:

Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.

JOURNAL:

Proceedings of the National Academy of Sciences of the United States of America Sep 2007, Vol 104, pp. 14747-52

ABSTRACT:

Genome-wide association (GWA) studies offer a powerful unbiased method for the identification of multiple susceptibility genes for complex diseases. Here we report the results of a GWA study for Crohn's disease (CD) using family trios from the Quebec Founder Population (QFP). Haplotype-based association analyses identified multiple regions associated with the disease that met the criteria for genome-wide significance, with many containing a gene whose function appears relevant to CD. A proportion of these were replicated in two independent German Caucasian samples, including the established CD loci NOD2 and IBD5. The recently described IL23R locus was also identified and replicated. For this region, multiple individuals with all major haplotypes in the QFP were sequenced and extensive fine mapping performed to identify risk and protective alleles. Several additional loci, including a region on 3p21 containing several plausible candidate genes, a region near JAKMIP1 on 4p16.1, and two larger regions on chromosome 17 were replicated. Together with previously published loci, the spectrum of CD genes identified to date involves biochemical networks that affect epithelial defense mechanisms, innate and adaptive immune response, and the repair or remodeling of tissue. PUBMED: 17804789
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