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 Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined). The EFO term esophageal adenocarcinoma, digestive system disease, Barrett's esophagus 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: esophageal adenocarcinoma, digestive system disease, Barrett's esophagus

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

DM Levine, WE Ek, R Zhang, X Liu, L Onstad, C Sather, P Lao-Sirieix, MD Gammon, DA Corley, NJ Shaheen, NC Bird, LJ Hardie, LJ Murray, BJ Reid, WH Chow, HA Risch, O Nyrén, W Ye, G Liu, Y Romero, L Bernstein, AH Wu, AG Casson, SJ Chanock, P Harrington, I Caldas, I Debiram-Beecham, C Caldas, NK Hayward, PD Pharoah, RC Fitzgerald, S Macgregor, DC Whiteman, TL Vaughan

TITLE:

A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.

JOURNAL:

Nature genetics Dec 2013, Vol 45, pp. 1487-93

ABSTRACT:

Esophageal adenocarcinoma is a cancer with rising incidence and poor survival. Most such cancers arise in a specialized intestinal metaplastic epithelium, which is diagnostic of Barrett's esophagus. In a genome-wide association study, we compared esophageal adenocarcinoma cases (n = 2,390) and individuals with precancerous Barrett's esophagus (n = 3,175) with 10,120 controls in 2 phases. For the combined case group, we identified three new associations. The first is at 19p13 (rs10419226: P = 3.6 × 10(-10)) in CRTC1 (encoding CREB-regulated transcription coactivator), whose aberrant activation has been associated with oncogenic activity. A second is at 9q22 (rs11789015: P = 1.0 × 10(-9)) in BARX1, which encodes a transcription factor important in esophageal specification. A third is at 3p14 (rs2687201: P = 5.5 × 10(-9)) near the transcription factor FOXP1, which regulates esophageal development. We also refine a previously reported association with Barrett's esophagus near the putative tumor suppressor gene FOXF1 at 16q24 and extend our findings to now include esophageal adenocarcinoma. PUBMED: 24121790
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