GeneSet Information

Tier I GS268624 • GWAS Catalog Data for colorectal cancer in 485 Ashkenazi Jewish cases, 498 Ashkenazi Jewish controls, 1,977 European ancestry cases, 999 European ancestry controls

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:

SL Schmit, FR Schumacher, CK Edlund, DV Conti, L Raskin, F Lejbkowicz, M Pinchev, HS Rennert, MA Jenkins, JL Hopper, DD Buchanan, NM Lindor, L Le Marchand, S Gallinger, RW Haile, PA Newcomb, SC Huang, G Rennert, G Casey, SB Gruber

TITLE:

A novel colorectal cancer risk locus at 4q32.2 identified from an international genome-wide association study.

JOURNAL:

Carcinogenesis Nov 2014, Vol 35, pp. 2512-9

ABSTRACT:

Only a fraction of colorectal cancer heritability is explained by known risk-conferring genetic variation. This study was designed to identify novel risk alleles in Europeans. We conducted a genome-wide association study (GWAS) meta-analysis of colorectal cancer in participants from a population-based case-control study in Israel (n = 1616 cases, 1329 controls) and a consortium study from the Colon Cancer Family Registry (n = 1977 cases, 999 controls). We used a two-stage (discovery-replication) GWAS design, followed by a joint meta-analysis. A combined analysis identified a novel susceptibility locus that reached genome-wide significance on chromosome 4q32.2 [rs35509282, risk allele = A (minor allele frequency = 0.09); odds ratio (OR) per risk allele = 1.53; P value = 8.2 × 10(-9); nearest gene = FSTL5]. The direction of the association was consistent across studies. In addition, we confirmed that 14 of 29 previously identified susceptibility variants were significantly associated with risk of colorectal cancer in this study. Genetic variation on chromosome 4q32.2 is significantly associated with risk of colorectal cancer in Ashkenazi Jews and Europeans in this study. PUBMED: 25023989
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colorectal cancer (EFO:0005842)

Gene List • 4 Genes

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