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 Ulcerative colitis. The EFO term ulcerative colitis 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: ulcerative colitis

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2020-05-06

SPECIES:

AUTHORS:

MS Silverberg, JH Cho, JD Rioux, DP McGovern, J Wu, V Annese, JP Achkar, P Goyette, R Scott, W Xu, MM Barmada, L Klei, MJ Daly, C Abraham, TM Bayless, F Bossa, AM Griffiths, AF Ippoliti, RG Lahaie, A Latiano, P Paré, DD Proctor, MD Regueiro, AH Steinhart, SR Targan, LP Schumm, EO Kistner, AT Lee, PK Gregersen, JI Rotter, SR Brant, KD Taylor, K Roeder, RH Duerr

TITLE:

Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.

JOURNAL:

Nature genetics Feb 2009, Vol 41, pp. 216-20

ABSTRACT:

Ulcerative colitis is a chronic inflammatory disease of the colon that presents as diarrhea and gastrointestinal bleeding. We performed a genome-wide association study using DNA samples from 1,052 individuals with ulcerative colitis and preexisting data from 2,571 controls, all of European ancestry. In an analysis that controlled for gender and population structure, ulcerative colitis loci attaining genome-wide significance and subsequent replication in two independent populations were identified on chromosomes 1p36 (rs6426833, combined P = 5.1 x 10(-13), combined odds ratio OR = 0.73) and 12q15 (rs1558744, combined P = 2.5 x 10(-12), combined OR = 1.35). In addition, combined genome-wide significant evidence for association was found in a region spanning BTNL2 to HLA-DQB1 on chromosome 6p21 (rs2395185, combined P = 1.0 x 10(-16), combined OR = 0.66) and at the IL23R locus on chromosome 1p31 (rs11209026, combined P = 1.3 x 10(-8), combined OR = 0.56; rs10889677, combined P = 1.3 x 10(-8), combined OR = 1.29). PUBMED: 19122664
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