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 Colorectal cancer. The EFO term colorectal cancer 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: colorectal cancer

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

P Broderick, L Carvajal-Carmona, AM Pittman, E Webb, K Howarth, A Rowan, S Lubbe, S Spain, K Sullivan, S Fielding, E Jaeger, J Vijayakrishnan, Z Kemp, M Gorman, I Chandler, E Papaemmanuil, S Penegar, W Wood, G Sellick, M Qureshi, A Teixeira, E Domingo, E Barclay, L Martin, O Sieber, D Kerr, R Gray, J Peto, JB Cazier, I Tomlinson, RS Houlston

TITLE:

A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.

JOURNAL:

Nature genetics Nov 2007, Vol 39, pp. 1315-7

ABSTRACT:

To identify risk variants for colorectal cancer (CRC), we conducted a genome-wide association study, genotyping 550,163 tag SNPs in 940 individuals with familial colorectal tumor (627 CRC, 313 advanced adenomas) and 965 controls. We evaluated selected SNPs in three replication sample sets (7,473 cases, 5,984 controls) and identified three SNPs in SMAD7 (involved in TGF-beta and Wnt signaling) associated with CRC. Across the four sample sets, the association between rs4939827 and CRC was highly statistically significant (P(trend) = 1.0 x 10(-12)). PUBMED: 17934461
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