GeneSet Information

Tier I GS269455 • GWAS Catalog Data for esophageal adenocarcinoma in 1,516 European ancestry cases, 3,209 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 Esophageal adenocarcinoma. The EFO term esophageal adenocarcinoma 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

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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Annotation Information

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esophageal adenocarcinoma (EFO:0000478)

Gene List • 11 Genes

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